Mieszana choroba tkanki łącznej
Objawy

Mieszana choroba tkanki łącznej (MCTD) to rzadkie, autoimmunologiczne schorzenie układowe, charakteryzujące się wysokim mianem przeciwciał anty-U1-RNP oraz nakładającymi się cechami klinicznymi tocznia rumieniowatego układowego (SLE), twardziny układowej (SSc) i zapalenia wielomięśniowego (PM). Wczesne objawy obejmują uczucie zmęczenia, stany podgorączkowe, mialgię, artralgie oraz charakterystyczny objaw Raynauda (90-96% pacjentów) i obrzęk palców (66-72%). Zajęcie układu mięśniowo-szkieletowego jest powszechne, z zapaleniem stawów u około 75% chorych oraz osłabieniem mięśni proksymalnych. Zmiany skórne występują u 50-60% pacjentów, a poważne powikłania dotyczą płuc (73-80% pacjentów), w tym śródmiąższowej choroby płuc (28-47%) i nadciśnienia płucnego (8-23%), które jest główną przyczyną zgonów. Zajęcie serca (30-40%) manifestuje się zapaleniem osierdzia, zaburzeniami przewodnictwa i niewydolnością serca, a nerek dotyczy około 25% pacjentów, najczęściej w postaci nefropatii błoniastej i białkomoczu. Objawy neurologiczne, hematologiczne oraz suchość związana z zespołem Sjögrena występują u mniejszej części chorych.

Mieszana choroba tkanki łącznej – objawy kliniczne

Mieszana choroba tkanki łącznej (MCTD) jest rzadką autoimmunologiczną chorobą układową, charakteryzującą się wysokim mianem przeciwciał anty-U1-RNP oraz nakładającymi się cechami klinicznymi różnych chorób tkanki łącznej, głównie tocznia rumieniowatego układowego (SLE), twardziny układowej (SSc) i zapalenia wielomięśniowego (PM). U niektórych pacjentów mogą występować również objawy reumatoidalnego zapalenia stawów (RZS) i zespołu Sjögrena12.

Charakterystyczną cechą MCTD jest to, że objawy różnych chorób tkanki łącznej zazwyczaj nie pojawiają się jednocześnie, ale występują sekwencyjnie w ciągu kilku lat, co znacznie utrudnia postawienie diagnozy we wczesnym stadium choroby34. Często może upłynąć wiele miesięcy, a nawet lat, zanim ustali się prawidłową diagnozę, ponieważ objawy mają tendencję do ewoluowania w czasie5.

Wczesne objawy MCTD

Początkowe objawy MCTD są zwykle niespecyficzne i mogą obejmować6:

  • Uczucie ogólnego rozbicia i zmęczenie78
  • Stany podgorączkowe910
  • Bóle mięśniowe (mialgia)11
  • Bóle stawów (artralgia)12

Wczesne objawy MCTD często dotyczą rąk13:

  • Objaw Raynauda (90-96% pacjentów) – nagłe zblednięcie, zasinienie, a następnie zaczerwienienie palców w odpowiedzi na zimno lub stres, często występuje jako pierwszy objaw i może wyprzedzać pozostałe o wiele miesięcy lub lat1415
  • Obrzęk palców i dłoni („palce kiełbaskowate”) – występuje u około 66-72% pacjentów i jest jednym z najbardziej charakterystycznych objawów1617

Objawy ze strony układu ruchu

Dolegliwości ze strony układu mięśniowo-szkieletowego należą do najczęstszych objawów MCTD18:

  • Bóle stawów – występują u prawie wszystkich pacjentów z MCTD19
  • Zapalenie stawów – dotyczy około 75% pacjentów, może przypominać RZS z obrzękiem, bolesnością i deformacjami stawów2021
  • Osłabienie mięśni – zwykle dotyczy mięśni proksymalnych, szczególnie w okolicy barków i bioder, utrudniając wykonywanie czynności takich jak podnoszenie rąk powyżej ramion, wchodzenie po schodach czy wstawanie z krzesła2223
  • Zapalenie mięśni – zazwyczaj subkliniczne, choć u niektórych pacjentów może być ciężkie24

Objawy skórne

Zmiany skórne są częstym objawem MCTD i często stanowią cechę prezentacji choroby25:

  • Wysypki – występują u 50-60% pacjentów, mogą przypominać wysypkę w toczniu (np. rumień na policzkach typu „motyla”) lub zapaleniu skórno-mięśniowym26
  • Czerwone lub brązowe plamy nad knykciami27
  • Fioletowe zabarwienie powiek (wysypka heliotropowa)28
  • Teleangiektazje okołopaznokciowe – rozszerzenie drobnych naczyń krwionośnych wokół paznokci29
  • Sklerodaktylia – pogrubienie i stwardnienie skóry palców, przypominające zmiany w twardzinie30
  • Utrata włosów (łysienie)31
  • Nadwrażliwość na światło słoneczne (fotowrażliwość)32

Objawy ze strony układu oddechowego

Zajęcie płuc występuje u około 73-80% pacjentów z MCTD i stanowi poważne powikłanie choroby3334:

  • Duszność – najczęstszy objaw płucny35
  • Suchy kaszel36
  • Ból w klatce piersiowej o charakterze opłucnowym37
  • Śródmiąższowa choroba płuc – występuje u 28-47% pacjentów3839
  • Nadciśnienie płucne – występuje u 8-23% pacjentów i jest główną przyczyną zgonów w MCTD4041
  • Wysięk opłucnowy42

Objawy ze strony układu krążenia

Zajęcie serca występuje u około 30-40% pacjentów z MCTD, choć często przebiega bezobjawowo43:

  • Zapalenie osierdzia – najczęstsza manifestacja sercowa4445
  • Wysięk osierdziowy46
  • Zaburzenia przewodnictwa serca – blok przedsionkowo-komorowy, blok odnogi pęczka Hisa47
  • Zapalenie mięśnia sercowego48
  • Niewydolność serca – w zaawansowanych przypadkach49

Objawy ze strony przewodu pokarmowego

Zajęcie przewodu pokarmowego jest częste i zwykle przypomina zmiany występujące w twardzinie układowej50:

  • Dysfunkcja przełyku – najczęstsza manifestacja żołądkowo-jelitowa, początkowo bezobjawowa51
  • Dysfagia (trudności w połykaniu)5253
  • Refluks żołądkowo-przełykowy (zgaga)54
  • Zaburzenia motoryki przewodu pokarmowego – mogą prowadzić do naprzemiennych biegunek i zaparć, a nawet do nietrzymania stolca55
  • Bóle brzucha56
  • W ciężkich przypadkach: zespół utraty białka z przewodu pokarmowego z obrzękami, wodobrzuszem i wysiękami w opłucnej i osierdziu57

Objawy ze strony nerek

Zajęcie nerek występuje u około 25% pacjentów z MCTD5859:

  • Najczęściej obserwuje się nefropatię błoniastą60
  • Białkomocz, czasem w zakresie zespołu nerczycowego61
  • Śródmiąższowe zapalenie nerek62
  • Kłębuszkowe zapalenie nerek mezangialno-proliferacyjne63
  • Przełomy nadciśnieniowe przypominające przełom nerkowy w twardzinie64

Objawy ze strony układu nerwowego

Objawy neurologiczne występują u około 10-25% pacjentów z MCTD6566:

  • Neuralgia nerwu trójdzielnego – najczęstsza manifestacja ze strony OUN, może być pierwszym objawem choroby i często występuje obustronnie6768
  • Bóle głowy o charakterze naczyniowym69
  • Aseptyczne zapalenie opon mózgowo-rdzeniowych70
  • Niedosłuch czuciowo-nerwowy – często przeoczany, występuje u około 50% pacjentów71
  • Różnorodne zaburzenia czucia (polineuropatie obwodowe)72

Objawy hematologiczne

Zaburzenia hematologiczne są częste w MCTD73:

  • Łagodna limfadenopatia – występuje u 25-50% pacjentów, często jako wczesny objaw choroby74
  • Niedokrwistość – najczęściej niedokrwistość chorób przewlekłych, dotyka 50-75% pacjentów7576
  • Leukopenia (zmniejszenie liczby białych krwinek) – występuje u 30-40% pacjentów77
  • Limfopenia78
  • Powiększenie śledziony i/lub wątroby79

Inne objawy

Dodatkowo u pacjentów z MCTD mogą występować80:

  • Objawy suchości (zespół Sjögrena) – dotyczą 25-50% pacjentów81
  • Stany podgorączkowe bez wyraźnej przyczyny82

Przebieg i progresja choroby

Fazy rozwoju MCTD

Przebieg MCTD może być zróżnicowany, ale często wyróżnia się kilka faz rozwoju choroby8384:

Faza wczesna – charakteryzuje się niespecyficznymi objawami, takimi jak zmęczenie, stany podgorączkowe, bóle mięśniowe i stawowe. Często występuje objaw Raynauda i obrzęk palców. Na tym etapie MCTD może być trudno odróżnić od niezróżnicowanej choroby tkanki łącznej (UCTD)85.

Faza rozwinięta – pojawiają się bardziej charakterystyczne objawy poszczególnych chorób tkanki łącznej (tocznia, twardziny, zapalenia wielomięśniowego). Mogą wystąpić zmiany skórne, zapalenie stawów, osłabienie mięśni i inne specyficzne manifestacje86.

Faza zaawansowana – dochodzi do zajęcia narządów wewnętrznych, takich jak płuca, serce i nerki. Mogą wystąpić poważne powikłania, jak nadciśnienie płucne, śródmiąższowa choroba płuc czy choroba serca87.

Długoterminowy przebieg choroby

Przebieg MCTD w perspektywie długoterminowej może być różny8889:

Około 1/3 pacjentów ma łagodny przebieg choroby i może osiągnąć długotrwałą remisję, czasem nawet bez kontynuacji leczenia9091.

Około 1/3 pacjentów ma przebieg z okresowymi zaostrzeniami, wymagający przewlekłego leczenia immunosupresyjnego9293.

Około 1/3 pacjentów rozwija bardziej agresywną postać choroby z poważnymi powikłaniami narządowymi i słabą odpowiedzią na leczenie94.

U około 13% pacjentów choroba będzie postępować pomimo leczenia95.

Zaostrzenia (flares)

MCTD może charakteryzować się okresami zaostrzeń (flares) przeplatanymi okresami remisji96:

Podczas zaostrzenia pacjenci mogą odczuwać nasilenie bólu stawów i mięśni. Stawy mogą ulegać zapaleniu i obrzękowi, powodując intensywny ból i sztywność, podobnie jak w reumatoidalnym zapaleniu stawów97.

Palce, dłonie i czasem stopy mogą nagle drętwieć i mrowić. Mogą stawać się blade, a następnie fioletowe lub niebieskie w odpowiedzi na zimno lub stres – są to objawy fenomenu Raynauda98.

Głównymi czynnikami wyzwalającymi zaostrzenia są stres i ekspozycja na zimno99.

Ewolucja choroby

W miarę upływu czasu MCTD może ewoluować w różne kierunki100101:

U około 12-26% pacjentów po średnio 8-17 latach trwania choroby MCTD może przekształcić się w inną, dobrze zdefiniowaną chorobę reumatyczną, najczęściej toczeń układowy lub twardzinę układową102103.

U wielu pacjentów z czasem mogą dominować objawy jednej z chorób składowych, najczęściej twardziny układowej104.

U około 13% pacjentów remisja utrzymuje się przez cały okres obserwacji (średnio 7 lat)105.

Aktywność choroby mierzona wskaźnikiem SLEDAI-2K zmniejsza się stopniowo w czasie, sugerując, że MCTD ma łagodniejszy przebieg niż toczeń układowy czy twardzina układowa106.

Powikłania MCTD

MCTD może prowadzić do poważnych, a nawet zagrażających życiu powikłań107108:

Powikłania płucne:

  • Nadciśnienie płucne – główna przyczyna zgonów w MCTD109110
  • Śródmiąższowa choroba płuc – prowadząca do włóknienia płuc i zaburzeń oddychania111

Powikłania sercowo-naczyniowe:

Powikłania nerkowe:

  • Uszkodzenie nerek115
  • Niewydolność nerek116

Inne powikłania:

  • Uszkodzenie przewodu pokarmowego117
  • Niedokrwistość118
  • Martwica tkanek (u pacjentów z ciężką postacią choroby Raynauda)119
  • Utrata słuchu120
  • Uszkodzenie nerwów121
  • Infekcje – zwiększone ryzyko z powodu immunosupresji122
  • Udar mózgu123
  • Perforacja jelita grubego124

Rokowanie

Rokowanie w MCTD jest zróżnicowane i zależy od wielu czynników125126:

10-letnie przeżycie wynosi około 80-96%127128129.

Przy odpowiednim leczeniu rokowanie jest zazwyczaj dobre, choć zależy głównie od tego, które objawy dominują u pacjenta130.

Rokowanie jest gorsze dla pacjentów, u których dominują objawy twardziny układowej i zapalenia wielomięśniowego131.

Główną przyczyną zgonów jest nadciśnienie płucne132133.

Inne przyczyny zgonów obejmują infekcje, powikłania sercowo-naczyniowe i nowotwory134.

MCTD u dzieci

MCTD może również występować u dzieci, choć najczęściej diagnozowana jest u starszych nastolatków135:

Podobnie jak u dorosłych, najczęstszymi objawami są zapalenie stawów i objaw Raynauda136.

Nadciśnienie płucne występuje rzadko, ale jest bardzo niebezpiecznym powikłaniem pediatrycznej MCTD. Najczęściej rozwija się powoli i bezobjawowo137.

W okresie rozwojowym choroba ma zazwyczaj łagodniejszy przebieg w porównaniu do dorosłych138.

U większości pacjentów po kilku latach aktywność choroby jest niska139.

Rokowanie zależy od indywidualnych cech choroby i odpowiedzi na leczenie. Niektóre dzieci osiągają remisję i mogą zaprzestać przyjmowania leków, podczas gdy inne mogą mieć aktywną chorobę przez wiele lat140.

Pomimo wyzwań, większość dzieci z MCTD dorasta, prowadząc aktywne i produktywne życie141.

Trudności diagnostyczne i rozpoznanie różnicowe

Diagnostyka MCTD stanowi wyzwanie ze względu na nakładające się objawy różnych chorób tkanki łącznej oraz zmienny obraz kliniczny w czasie142.

Kiedy objawy MCTD po raz pierwszy się pojawiają, mogą sugerować, że osoba dotknięta chorobą ma jedną z kilku chorób reumatycznych. Jednak w przypadku MCTD objawy nie są tak nasilone ani tak rozległe, jak byłyby, gdyby osoba cierpiała na toczeń, twardzinę, reumatoidalne zapalenie stawów lub inne zaburzenia reumatyczne143.

Często rozpoznanie może być postawione dopiero po wielu latach, gdy pojawi się wystarczająco dużo nakładających się cech charakterystycznych dla MCTD144.

Kluczowym elementem diagnostyki jest wykrycie przeciwciał anty-U1-RNP w wysokim mianie, które są charakterystyczne dla MCTD145.

U około 25-50% pacjentów z MCTD z czasem objawy mogą ewoluować w kierunku jednej z chorób składowych, najczęściej twardziny układowej lub tocznia układowego146.

Podsumowanie

Mieszana choroba tkanki łącznej jest złożonym, autoimmunologicznym schorzeniem o zróżnicowanym obrazie klinicznym i przebiegu. Charakteryzuje się stopniowym pojawianiem się objawów różnych chorób tkanki łącznej, co sprawia, że diagnoza może być trudna i opóźniona. Wczesne objawy najczęściej dotyczą układu ruchu i skóry, natomiast wraz z postępem choroby dochodzi do zajęcia narządów wewnętrznych, zwłaszcza płuc, serca i nerek147148.

Przebieg MCTD jest bardzo indywidualny – u części pacjentów choroba ma łagodny charakter z możliwością długotrwałej remisji, podczas gdy u innych może prowadzić do poważnych powikłań narządowych i niepełnosprawności. Najgroźniejszym powikłaniem, będącym główną przyczyną zgonów, jest nadciśnienie płucne149150.

Wczesne rozpoznanie i odpowiednie leczenie MCTD jest kluczowe dla zapobiegania uszkodzeniom narządów i poprawy rokowania. Dzięki właściwemu postępowaniu terapeutycznemu większość pacjentów z MCTD może prowadzić aktywne życie, choć wymaga to regularnej opieki medycznej i monitorowania przebiegu choroby151152.

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  1. 09.04.2026
  2. www.leksykon.com.pl

Materiały źródłowe

  • #1 Mixed Connective Tissue Disease – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK542198/
    Mixed connective tissue disease is a rare autoimmune disease characterized by the presence of the anti-U1-ribonucleoprotein, Raynaud phenomenon, and features of at least 2 connective tissue diseases, including systemic lupus erythematosus, systemic sclerosis, inflammatory myositis, and rheumatoid arthritis. Diagnosis can be challenging due to variable and diverse presenting symptoms and changes in symptoms over time. […] Initial symptoms of MCTD are typically nonspecific and include arthralgia, malaise, myalgia, and low-grade fever. MCTD can affect nearly any organ system, and symptoms reflect the overlapping nature of this condition with other rheumatological diseases, as there are no unique, singular clinical manifestations of MCTD. […] The most common skin change is Raynaud phenomenon, which is also the most common presenting feature of MCTD, occurring between 50.3% and 93.2% at presentation and 57.5% to 99% after follow-up. Puffy digits, characterized by diffuse soft tissue swelling of the fingers, are also characteristic, although not always present, affecting 53% to 72% of patients at presentation and 46% to 92% after follow-up.
  • #2 Mixed connective tissue disease – Symptoms & causes – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/mixed-connective-tissue-disease/symptoms-causes/syc-20375147
    Mixed connective tissue disease (MCTD) has signs and symptoms of a combination of disorders primarily lupus, scleroderma, and polymyositis. Many people with this uncommon disease also have Sjogren’s syndrome. For this reason, mixed connective tissue disease (MCTD) is sometimes called an overlap disease. […] In mixed connective tissue disease, the symptoms of the separate diseases usually don’t appear all at once. Instead, they tend to occur over a number of years, which can complicate diagnosis. […] Early signs and symptoms often involve the hands. Fingers might get puffy, and the fingertips become white and numb, often in response to cold exposure. In later stages, some organs such as the lungs, heart and kidneys can be affected. […] Early indications of mixed connective tissue disease can include: General feeling of being unwell. This can include increased fatigue and a mild fever. Cold and numb fingers or toes (Raynaud’s phenomenon). In response to cold or stress, your fingers or toes might turn white and then purplish blue. After warming, the fingers or toes turn red. Swollen fingers or hands. Some people have swelling of the fingers. Muscle and joint pain. Joints can become inflamed, swollen and deformed, similar to what occurs with rheumatoid arthritis. Rash. Red or reddish brown patches can appear over the knuckles. […] See your doctor if you have signs and symptoms that interfere with your daily routine particularly if you’ve been diagnosed with lupus or another connective tissue disease.
  • #3 Mixed connective tissue disease – Symptoms & causes – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/mixed-connective-tissue-disease/symptoms-causes/syc-20375147
    Mixed connective tissue disease (MCTD) has signs and symptoms of a combination of disorders primarily lupus, scleroderma, and polymyositis. Many people with this uncommon disease also have Sjogren’s syndrome. For this reason, mixed connective tissue disease (MCTD) is sometimes called an overlap disease. […] In mixed connective tissue disease, the symptoms of the separate diseases usually don’t appear all at once. Instead, they tend to occur over a number of years, which can complicate diagnosis. […] Early signs and symptoms often involve the hands. Fingers might get puffy, and the fingertips become white and numb, often in response to cold exposure. In later stages, some organs such as the lungs, heart and kidneys can be affected. […] Early indications of mixed connective tissue disease can include: General feeling of being unwell. This can include increased fatigue and a mild fever. Cold and numb fingers or toes (Raynaud’s phenomenon). In response to cold or stress, your fingers or toes might turn white and then purplish blue. After warming, the fingers or toes turn red. Swollen fingers or hands. Some people have swelling of the fingers. Muscle and joint pain. Joints can become inflamed, swollen and deformed, similar to what occurs with rheumatoid arthritis. Rash. Red or reddish brown patches can appear over the knuckles. […] See your doctor if you have signs and symptoms that interfere with your daily routine particularly if you’ve been diagnosed with lupus or another connective tissue disease.
  • #4 Mixed Connective Tissue Disease | Cedars-Sinai
    https://www.cedars-sinai.org/health-library/diseases-and-conditions/m/mixed-connective-tissue-disease.html
    Mixed connective tissue disease is a rheumatic disease that has features shared by lupus, scleroderma, polymyositis or dermatomyositis and rheumatoid arthritis. […] When symptoms of Mixed Connective Tissue Disease first appear, they may suggest that the person affected has any one of several rheumatic diseases. However, when a person has mixed connective tissue disorder, the symptoms aren’t as severe or as widespread as they would be if the person has lupus, scleroderma, rheumatoid arthritis or other rheumatic disorder. […] This condition has many symptoms, including: Pain in two or more joints. Almost all persons with mixed connective tissue disease have this symptom. Three out of four persons with the condition have arthritis and may have the swollen, deformed joints of rheumatoid arthritis. […] Raynaud’s phenomenon. This symptom may appear years before any other. […] Skin changes. These can be like those of lupus or red patches over the knuckles, violet discolorations of the eyelids, loss of hair over the body and abnormal opening up (dilation) of the capillaries of the hands and face that may form a tumor. […] Swollen hands. This is the most common symptom. With time, the fingers look more and more like sausages. […] Muscle weakness. There may sometimes also be tenderness. […] Difficulty swallowing and keeping food in the stomach. […] Loss of sensation in the nerves of the face and head. […] Lung disorders. Nearly 80% of the people with mixed connective tissue disease have some involvement of the lungs. Symptoms can include inflammation of the lining that covers the lungs and the inside of the chest, difficulty breathing or pulmonary hypertension. […] Kidney disease. Only about one out of every 10 patients has this symptom, which is often mild. In some cases, however, it can become life threatening.
  • #5 Mixed Connective Tissue Disease
    https://www.hss.edu/condition-list_mixed-connective-tissue-disease.asp
    As with other connective tissue diseases, the symptoms of MCTD can range from very mild to life-threatening. Often, patients with MCTD have systemic symptoms such as fevers, weight loss, a decrease in energy, and feelings of weakness. The most common symptoms at diagnosis include Raynauds phenomenon (temporary changes in the colors of the fingers and toes caused by stress or exposure to cold) and arthritis (warmth, swelling, tenderness and limitation of motion of a joint). It is important to understand that all of these symptoms can indicators of other conditions. Some patients with MCTD will have additional symptoms that affect body organs such as the lungs, heart and skin. […] Diagnosis is based on symptoms, physical exam findings, lab tests and radiological imaging studies. Since patients will show signs and symptoms of multiple disorders, MCTD and overlap syndrome are both difficult to diagnose. Sometimes it may take months or even years to determine the correct diagnosis, as symptoms tend to evolve over time. A positive test for anti-RNP antibody is required to make diagnosis of MCTD. Patients who test negative for this antibody are diagnosed as having overlap syndrome. In addition to this testing, blood and urine, cardiac and pulmonary studies are frequently monitored.
  • #6 Mixed Connective Tissue Disease – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK542198/
    Mixed connective tissue disease is a rare autoimmune disease characterized by the presence of the anti-U1-ribonucleoprotein, Raynaud phenomenon, and features of at least 2 connective tissue diseases, including systemic lupus erythematosus, systemic sclerosis, inflammatory myositis, and rheumatoid arthritis. Diagnosis can be challenging due to variable and diverse presenting symptoms and changes in symptoms over time. […] Initial symptoms of MCTD are typically nonspecific and include arthralgia, malaise, myalgia, and low-grade fever. MCTD can affect nearly any organ system, and symptoms reflect the overlapping nature of this condition with other rheumatological diseases, as there are no unique, singular clinical manifestations of MCTD. […] The most common skin change is Raynaud phenomenon, which is also the most common presenting feature of MCTD, occurring between 50.3% and 93.2% at presentation and 57.5% to 99% after follow-up. Puffy digits, characterized by diffuse soft tissue swelling of the fingers, are also characteristic, although not always present, affecting 53% to 72% of patients at presentation and 46% to 92% after follow-up.
  • #7 Mixed connective tissue disease – Symptoms & causes – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/mixed-connective-tissue-disease/symptoms-causes/syc-20375147
    Mixed connective tissue disease (MCTD) has signs and symptoms of a combination of disorders primarily lupus, scleroderma, and polymyositis. Many people with this uncommon disease also have Sjogren’s syndrome. For this reason, mixed connective tissue disease (MCTD) is sometimes called an overlap disease. […] In mixed connective tissue disease, the symptoms of the separate diseases usually don’t appear all at once. Instead, they tend to occur over a number of years, which can complicate diagnosis. […] Early signs and symptoms often involve the hands. Fingers might get puffy, and the fingertips become white and numb, often in response to cold exposure. In later stages, some organs such as the lungs, heart and kidneys can be affected. […] Early indications of mixed connective tissue disease can include: General feeling of being unwell. This can include increased fatigue and a mild fever. Cold and numb fingers or toes (Raynaud’s phenomenon). In response to cold or stress, your fingers or toes might turn white and then purplish blue. After warming, the fingers or toes turn red. Swollen fingers or hands. Some people have swelling of the fingers. Muscle and joint pain. Joints can become inflamed, swollen and deformed, similar to what occurs with rheumatoid arthritis. Rash. Red or reddish brown patches can appear over the knuckles. […] See your doctor if you have signs and symptoms that interfere with your daily routine particularly if you’ve been diagnosed with lupus or another connective tissue disease.
  • #8 Mixed Connective Tissue Disease (MCTD): Symptoms & Treatment
    https://my.clevelandclinic.org/health/diseases/15039-mixed-connective-tissue-disease
    MCTD symptoms may range from Raynauds phenomenon to muscle pain and weakness. Symptoms of different connective tissue disorders typically occur over time, not all at once. MCTD symptoms may include: Fatigue and/or malaise (generally feeling unwell), Low-grade fever, Muscle pain and weakness with no apparent cause, Joint pain and inflammation, Raynauds phenomenon (reduced blood flow to your fingers, toes, ears and nose, causing sensitivity, numbness and loss of color in these areas), Swollen, puffy fingers, sometimes temporary but at other times, progressing into sclerodactyly (thin fingers with hardened skin and limited movement), Red or reddish-brown rashes or patches on your knuckles. […] During an MCTD flare-up, you may feel severe joint and muscle pain. Your joints may inflame and swell, causing intense pain and stiffness. This is similar to what rheumatoid arthritis feels like. Your fingers, hands and sometimes toes may suddenly feel numb and tingly. They may become pale and then purple or blue in response to the cold or stress. These are symptoms of Raynauds phenomenon.
  • #9 Mixed connective tissue disease – Symptoms & causes – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/mixed-connective-tissue-disease/symptoms-causes/syc-20375147
    Mixed connective tissue disease (MCTD) has signs and symptoms of a combination of disorders primarily lupus, scleroderma, and polymyositis. Many people with this uncommon disease also have Sjogren’s syndrome. For this reason, mixed connective tissue disease (MCTD) is sometimes called an overlap disease. […] In mixed connective tissue disease, the symptoms of the separate diseases usually don’t appear all at once. Instead, they tend to occur over a number of years, which can complicate diagnosis. […] Early signs and symptoms often involve the hands. Fingers might get puffy, and the fingertips become white and numb, often in response to cold exposure. In later stages, some organs such as the lungs, heart and kidneys can be affected. […] Early indications of mixed connective tissue disease can include: General feeling of being unwell. This can include increased fatigue and a mild fever. Cold and numb fingers or toes (Raynaud’s phenomenon). In response to cold or stress, your fingers or toes might turn white and then purplish blue. After warming, the fingers or toes turn red. Swollen fingers or hands. Some people have swelling of the fingers. Muscle and joint pain. Joints can become inflamed, swollen and deformed, similar to what occurs with rheumatoid arthritis. Rash. Red or reddish brown patches can appear over the knuckles. […] See your doctor if you have signs and symptoms that interfere with your daily routine particularly if you’ve been diagnosed with lupus or another connective tissue disease.
  • #10 Mixed Connective Tissue Disease (MCTD): Symptoms & Treatment
    https://my.clevelandclinic.org/health/diseases/15039-mixed-connective-tissue-disease
    MCTD symptoms may range from Raynauds phenomenon to muscle pain and weakness. Symptoms of different connective tissue disorders typically occur over time, not all at once. MCTD symptoms may include: Fatigue and/or malaise (generally feeling unwell), Low-grade fever, Muscle pain and weakness with no apparent cause, Joint pain and inflammation, Raynauds phenomenon (reduced blood flow to your fingers, toes, ears and nose, causing sensitivity, numbness and loss of color in these areas), Swollen, puffy fingers, sometimes temporary but at other times, progressing into sclerodactyly (thin fingers with hardened skin and limited movement), Red or reddish-brown rashes or patches on your knuckles. […] During an MCTD flare-up, you may feel severe joint and muscle pain. Your joints may inflame and swell, causing intense pain and stiffness. This is similar to what rheumatoid arthritis feels like. Your fingers, hands and sometimes toes may suddenly feel numb and tingly. They may become pale and then purple or blue in response to the cold or stress. These are symptoms of Raynauds phenomenon.
  • #11 Mixed Connective Tissue Disease – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK542198/
    Mixed connective tissue disease is a rare autoimmune disease characterized by the presence of the anti-U1-ribonucleoprotein, Raynaud phenomenon, and features of at least 2 connective tissue diseases, including systemic lupus erythematosus, systemic sclerosis, inflammatory myositis, and rheumatoid arthritis. Diagnosis can be challenging due to variable and diverse presenting symptoms and changes in symptoms over time. […] Initial symptoms of MCTD are typically nonspecific and include arthralgia, malaise, myalgia, and low-grade fever. MCTD can affect nearly any organ system, and symptoms reflect the overlapping nature of this condition with other rheumatological diseases, as there are no unique, singular clinical manifestations of MCTD. […] The most common skin change is Raynaud phenomenon, which is also the most common presenting feature of MCTD, occurring between 50.3% and 93.2% at presentation and 57.5% to 99% after follow-up. Puffy digits, characterized by diffuse soft tissue swelling of the fingers, are also characteristic, although not always present, affecting 53% to 72% of patients at presentation and 46% to 92% after follow-up.
  • #12 Mixed Connective Tissue Disease – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK542198/
    Mixed connective tissue disease is a rare autoimmune disease characterized by the presence of the anti-U1-ribonucleoprotein, Raynaud phenomenon, and features of at least 2 connective tissue diseases, including systemic lupus erythematosus, systemic sclerosis, inflammatory myositis, and rheumatoid arthritis. Diagnosis can be challenging due to variable and diverse presenting symptoms and changes in symptoms over time. […] Initial symptoms of MCTD are typically nonspecific and include arthralgia, malaise, myalgia, and low-grade fever. MCTD can affect nearly any organ system, and symptoms reflect the overlapping nature of this condition with other rheumatological diseases, as there are no unique, singular clinical manifestations of MCTD. […] The most common skin change is Raynaud phenomenon, which is also the most common presenting feature of MCTD, occurring between 50.3% and 93.2% at presentation and 57.5% to 99% after follow-up. Puffy digits, characterized by diffuse soft tissue swelling of the fingers, are also characteristic, although not always present, affecting 53% to 72% of patients at presentation and 46% to 92% after follow-up.
  • #13 Mixed connective tissue disease – Symptoms & causes – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/mixed-connective-tissue-disease/symptoms-causes/syc-20375147
    Mixed connective tissue disease (MCTD) has signs and symptoms of a combination of disorders primarily lupus, scleroderma, and polymyositis. Many people with this uncommon disease also have Sjogren’s syndrome. For this reason, mixed connective tissue disease (MCTD) is sometimes called an overlap disease. […] In mixed connective tissue disease, the symptoms of the separate diseases usually don’t appear all at once. Instead, they tend to occur over a number of years, which can complicate diagnosis. […] Early signs and symptoms often involve the hands. Fingers might get puffy, and the fingertips become white and numb, often in response to cold exposure. In later stages, some organs such as the lungs, heart and kidneys can be affected. […] Early indications of mixed connective tissue disease can include: General feeling of being unwell. This can include increased fatigue and a mild fever. Cold and numb fingers or toes (Raynaud’s phenomenon). In response to cold or stress, your fingers or toes might turn white and then purplish blue. After warming, the fingers or toes turn red. Swollen fingers or hands. Some people have swelling of the fingers. Muscle and joint pain. Joints can become inflamed, swollen and deformed, similar to what occurs with rheumatoid arthritis. Rash. Red or reddish brown patches can appear over the knuckles. […] See your doctor if you have signs and symptoms that interfere with your daily routine particularly if you’ve been diagnosed with lupus or another connective tissue disease.
  • #14
    https://arthritis.ca/about-arthritis/arthritis-types-(a-z)/types/mixed-connective-tissue-disease-(mctd)
    Most people with MCTD experience subtle signs of the disease many years before having it diagnosed. These symptoms can include swollen fingers, joint pain with swollen joints (especially of the hands), acid reflux, difficulty swallowing, muscle weakness (of the upper arms and legs), shortness of breath, dry cough, rash, general malaise and fatigue. Raynaud’s phenomenon, in which the fingers become pale and numb in response to cold or emotional stress, is very common in this disease. Symptoms of MCTD vary widely and each person’s illness can be quite different. […] Almost everyone with MCTD will have aching joints. The disease also inflames the muscle fibres causing weakness and sometimes soreness, especially in the muscles around the shoulders and hips. […] Frequently, MCTD causes swollen hands and fingers where the fingers may look very puffy and joints may be swollen. A pink butterfly-shaped rash on the cheeks and the bridge of the nose, red patches on the knuckles, a violet discolouration of the eyelids and red dot-like blood vessels on the face and hands may also occur. There may be small hemorrhages around the nail beds.
  • #15 Mixed Connective-Tissue Disease (MCTD) Clinical Presentation: History, Physical
    https://emedicine.medscape.com/article/335815-clinical
    Manifestations of mixed connective-tissue disease (MCTD) can be protean. The principal features of early MCTD are Raynaud phenomenon, inflammatory arthritis, swollen hands, and myalgia/myositis. […] The following may be revealed by history or physical examination: Raynaud phenomenon (96% cumulatively, 74% at presentation); Arthralgia/arthritis (96% cumulatively, 68% at presentation); Esophageal hypomotility (66% cumulatively, 9% at presentation); Pulmonary dysfunction (66% cumulatively, rare at presentation); Swollen hands (66% cumulatively, 45% at presentation); Myositis (51% cumulatively, 2% at presentation); Rash (53% cumulatively, 13% at presentation); Leukopenia (53% cumulatively, 9% at presentation); Sclerodactyly (49% cumulatively, 11% at presentation); Pleuritis/pericarditis (43% cumulatively, 19% at presentation); Pulmonary hypertension (23% cumulatively, rare at presentation).
  • #16 Mixed Connective-Tissue Disease (MCTD) Clinical Presentation: History, Physical
    https://emedicine.medscape.com/article/335815-clinical
    Manifestations of mixed connective-tissue disease (MCTD) can be protean. The principal features of early MCTD are Raynaud phenomenon, inflammatory arthritis, swollen hands, and myalgia/myositis. […] The following may be revealed by history or physical examination: Raynaud phenomenon (96% cumulatively, 74% at presentation); Arthralgia/arthritis (96% cumulatively, 68% at presentation); Esophageal hypomotility (66% cumulatively, 9% at presentation); Pulmonary dysfunction (66% cumulatively, rare at presentation); Swollen hands (66% cumulatively, 45% at presentation); Myositis (51% cumulatively, 2% at presentation); Rash (53% cumulatively, 13% at presentation); Leukopenia (53% cumulatively, 9% at presentation); Sclerodactyly (49% cumulatively, 11% at presentation); Pleuritis/pericarditis (43% cumulatively, 19% at presentation); Pulmonary hypertension (23% cumulatively, rare at presentation).
  • #17 Mixed Connective Tissue Disease – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK542198/
    Mixed connective tissue disease is a rare autoimmune disease characterized by the presence of the anti-U1-ribonucleoprotein, Raynaud phenomenon, and features of at least 2 connective tissue diseases, including systemic lupus erythematosus, systemic sclerosis, inflammatory myositis, and rheumatoid arthritis. Diagnosis can be challenging due to variable and diverse presenting symptoms and changes in symptoms over time. […] Initial symptoms of MCTD are typically nonspecific and include arthralgia, malaise, myalgia, and low-grade fever. MCTD can affect nearly any organ system, and symptoms reflect the overlapping nature of this condition with other rheumatological diseases, as there are no unique, singular clinical manifestations of MCTD. […] The most common skin change is Raynaud phenomenon, which is also the most common presenting feature of MCTD, occurring between 50.3% and 93.2% at presentation and 57.5% to 99% after follow-up. Puffy digits, characterized by diffuse soft tissue swelling of the fingers, are also characteristic, although not always present, affecting 53% to 72% of patients at presentation and 46% to 92% after follow-up.
  • #18 Mixed Connective Tissue Disease (MCTD) – Bone, Joint, and Muscle Disorders – Merck Manual Consumer Version
    https://www.merckmanuals.com/home/bone-joint-and-muscle-disorders/systemic-rheumatic-diseases/mixed-connective-tissue-disease-mctd
    Raynaud syndrome, joint pains, various skin abnormalities, muscle weakness, and problems with internal organs can develop. […] The typical symptoms of mixed connective tissue disease are Raynaud syndrome (in which the fingers suddenly become very pale and tingle or become numb or blue in response to cold or emotional upset), joint inflammation (arthritis), swollen hands, muscle weakness, heartburn, and shortness of breath. Raynaud syndrome may precede other symptoms by many years. Regardless of how mixed connective tissue disease starts, it tends to worsen, and symptoms spread to several parts of the body. […] Almost everyone with mixed connective tissue disease has aching joints. Approximately 75% of people develop the swelling and pain typical of arthritis. Mixed connective tissue disease damages the muscle fibers, so the muscles may feel weak and sore, especially in the shoulders and hips. Tasks such as lifting the arms above the shoulders, climbing stairs, and getting out of a chair can become very difficult.
  • #19 Mixed Connective Tissue Disease (MCTD) – Bone, Joint, and Muscle Disorders – Merck Manual Consumer Version
    https://www.merckmanuals.com/home/bone-joint-and-muscle-disorders/systemic-rheumatic-diseases/mixed-connective-tissue-disease-mctd
    Raynaud syndrome, joint pains, various skin abnormalities, muscle weakness, and problems with internal organs can develop. […] The typical symptoms of mixed connective tissue disease are Raynaud syndrome (in which the fingers suddenly become very pale and tingle or become numb or blue in response to cold or emotional upset), joint inflammation (arthritis), swollen hands, muscle weakness, heartburn, and shortness of breath. Raynaud syndrome may precede other symptoms by many years. Regardless of how mixed connective tissue disease starts, it tends to worsen, and symptoms spread to several parts of the body. […] Almost everyone with mixed connective tissue disease has aching joints. Approximately 75% of people develop the swelling and pain typical of arthritis. Mixed connective tissue disease damages the muscle fibers, so the muscles may feel weak and sore, especially in the shoulders and hips. Tasks such as lifting the arms above the shoulders, climbing stairs, and getting out of a chair can become very difficult.
  • #20 Mixed Connective Tissue Disease (MCTD) – Bone, Joint, and Muscle Disorders – Merck Manual Consumer Version
    https://www.merckmanuals.com/home/bone-joint-and-muscle-disorders/systemic-rheumatic-diseases/mixed-connective-tissue-disease-mctd
    Raynaud syndrome, joint pains, various skin abnormalities, muscle weakness, and problems with internal organs can develop. […] The typical symptoms of mixed connective tissue disease are Raynaud syndrome (in which the fingers suddenly become very pale and tingle or become numb or blue in response to cold or emotional upset), joint inflammation (arthritis), swollen hands, muscle weakness, heartburn, and shortness of breath. Raynaud syndrome may precede other symptoms by many years. Regardless of how mixed connective tissue disease starts, it tends to worsen, and symptoms spread to several parts of the body. […] Almost everyone with mixed connective tissue disease has aching joints. Approximately 75% of people develop the swelling and pain typical of arthritis. Mixed connective tissue disease damages the muscle fibers, so the muscles may feel weak and sore, especially in the shoulders and hips. Tasks such as lifting the arms above the shoulders, climbing stairs, and getting out of a chair can become very difficult.
  • #21
    https://arthritis.ca/about-arthritis/arthritis-types-(a-z)/types/mixed-connective-tissue-disease-(mctd)
    Most people with MCTD experience subtle signs of the disease many years before having it diagnosed. These symptoms can include swollen fingers, joint pain with swollen joints (especially of the hands), acid reflux, difficulty swallowing, muscle weakness (of the upper arms and legs), shortness of breath, dry cough, rash, general malaise and fatigue. Raynaud’s phenomenon, in which the fingers become pale and numb in response to cold or emotional stress, is very common in this disease. Symptoms of MCTD vary widely and each person’s illness can be quite different. […] Almost everyone with MCTD will have aching joints. The disease also inflames the muscle fibres causing weakness and sometimes soreness, especially in the muscles around the shoulders and hips. […] Frequently, MCTD causes swollen hands and fingers where the fingers may look very puffy and joints may be swollen. A pink butterfly-shaped rash on the cheeks and the bridge of the nose, red patches on the knuckles, a violet discolouration of the eyelids and red dot-like blood vessels on the face and hands may also occur. There may be small hemorrhages around the nail beds.
  • #22 Mixed Connective Tissue Disease (MCTD) – Bone, Joint, and Muscle Disorders – Merck Manual Consumer Version
    https://www.merckmanuals.com/home/bone-joint-and-muscle-disorders/systemic-rheumatic-diseases/mixed-connective-tissue-disease-mctd
    Raynaud syndrome, joint pains, various skin abnormalities, muscle weakness, and problems with internal organs can develop. […] The typical symptoms of mixed connective tissue disease are Raynaud syndrome (in which the fingers suddenly become very pale and tingle or become numb or blue in response to cold or emotional upset), joint inflammation (arthritis), swollen hands, muscle weakness, heartburn, and shortness of breath. Raynaud syndrome may precede other symptoms by many years. Regardless of how mixed connective tissue disease starts, it tends to worsen, and symptoms spread to several parts of the body. […] Almost everyone with mixed connective tissue disease has aching joints. Approximately 75% of people develop the swelling and pain typical of arthritis. Mixed connective tissue disease damages the muscle fibers, so the muscles may feel weak and sore, especially in the shoulders and hips. Tasks such as lifting the arms above the shoulders, climbing stairs, and getting out of a chair can become very difficult.
  • #23
    https://arthritis.ca/about-arthritis/arthritis-types-(a-z)/types/mixed-connective-tissue-disease-(mctd)
    Most people with MCTD experience subtle signs of the disease many years before having it diagnosed. These symptoms can include swollen fingers, joint pain with swollen joints (especially of the hands), acid reflux, difficulty swallowing, muscle weakness (of the upper arms and legs), shortness of breath, dry cough, rash, general malaise and fatigue. Raynaud’s phenomenon, in which the fingers become pale and numb in response to cold or emotional stress, is very common in this disease. Symptoms of MCTD vary widely and each person’s illness can be quite different. […] Almost everyone with MCTD will have aching joints. The disease also inflames the muscle fibres causing weakness and sometimes soreness, especially in the muscles around the shoulders and hips. […] Frequently, MCTD causes swollen hands and fingers where the fingers may look very puffy and joints may be swollen. A pink butterfly-shaped rash on the cheeks and the bridge of the nose, red patches on the knuckles, a violet discolouration of the eyelids and red dot-like blood vessels on the face and hands may also occur. There may be small hemorrhages around the nail beds.
  • #24 Mixed connective tissue disease presenting with progressive scleroderma symptoms in a 10-year-old girl
    https://pmc.ncbi.nlm.nih.gov/articles/PMC3858664/
    During the developmental period the course of the disease is milder in comparison to adults. In the majority of patients, after a few years the activity of the disease is low. The most frequent causes of death are connected with development of pulmonary hypertension and interstitial lung disease. […] The girl described in our paper had no clinical symptoms of muscle damage and her muscle enzymes activity was normal. It is generally thought that muscle involvement in MCTD is subclinical and usually presents as elevated levels of muscle enzymes; severe muscle weakness is not observed in this disease. […] It is thought that in the developmental period MCTD has a milder course than in adult patients, and that the disease activity gradually decreases and after a few years it becomes low.
  • #25 Mixed connective tissue disease – Wikipedia
    https://en.wikipedia.org/wiki/Mixed_connective_tissue_disease
    The early clinical features of MCTD are nonspecific and may include fatigue, low-grade fever, myalgias, Raynaud phenomenon, swelling of the fingers or hands, arthralgia, esophageal reflux or dysmotility, acrosclerosis (also known as sclerodactyly), mild myositis, and various forms of pulmonary involvement. MCTD can affect nearly any organ system. […] Skin involvement is common in most people with MCTD and is frequently a presenting characteristic. The most prevalent skin change is Raynaud’s phenomenon, which usually appears early in the course of the disease. Swollen digits are a common sign, and on occasion, the complete hand swells. Acrosclerosis, also known as sclerodactyly, can develop with or without proximal scleroderma and is usually a later symptom of the condition. Rashes are found in 50-60% of patients. Common symptoms include photosensitivity and malar rashes, similar to those seen with SLE. Discoid lesions are also occasionally seen. Some patients with MCTD may have scleroderma-like symptoms such as squared telangiectasia on the hands and face, periungual telangiectasia, sclerodactyly, and calcinosis cutis.
  • #26 Mixed connective tissue disease – Wikipedia
    https://en.wikipedia.org/wiki/Mixed_connective_tissue_disease
    The early clinical features of MCTD are nonspecific and may include fatigue, low-grade fever, myalgias, Raynaud phenomenon, swelling of the fingers or hands, arthralgia, esophageal reflux or dysmotility, acrosclerosis (also known as sclerodactyly), mild myositis, and various forms of pulmonary involvement. MCTD can affect nearly any organ system. […] Skin involvement is common in most people with MCTD and is frequently a presenting characteristic. The most prevalent skin change is Raynaud’s phenomenon, which usually appears early in the course of the disease. Swollen digits are a common sign, and on occasion, the complete hand swells. Acrosclerosis, also known as sclerodactyly, can develop with or without proximal scleroderma and is usually a later symptom of the condition. Rashes are found in 50-60% of patients. Common symptoms include photosensitivity and malar rashes, similar to those seen with SLE. Discoid lesions are also occasionally seen. Some patients with MCTD may have scleroderma-like symptoms such as squared telangiectasia on the hands and face, periungual telangiectasia, sclerodactyly, and calcinosis cutis.
  • #27 Mixed connective tissue disease – Symptoms & causes – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/mixed-connective-tissue-disease/symptoms-causes/syc-20375147
    Mixed connective tissue disease (MCTD) has signs and symptoms of a combination of disorders primarily lupus, scleroderma, and polymyositis. Many people with this uncommon disease also have Sjogren’s syndrome. For this reason, mixed connective tissue disease (MCTD) is sometimes called an overlap disease. […] In mixed connective tissue disease, the symptoms of the separate diseases usually don’t appear all at once. Instead, they tend to occur over a number of years, which can complicate diagnosis. […] Early signs and symptoms often involve the hands. Fingers might get puffy, and the fingertips become white and numb, often in response to cold exposure. In later stages, some organs such as the lungs, heart and kidneys can be affected. […] Early indications of mixed connective tissue disease can include: General feeling of being unwell. This can include increased fatigue and a mild fever. Cold and numb fingers or toes (Raynaud’s phenomenon). In response to cold or stress, your fingers or toes might turn white and then purplish blue. After warming, the fingers or toes turn red. Swollen fingers or hands. Some people have swelling of the fingers. Muscle and joint pain. Joints can become inflamed, swollen and deformed, similar to what occurs with rheumatoid arthritis. Rash. Red or reddish brown patches can appear over the knuckles. […] See your doctor if you have signs and symptoms that interfere with your daily routine particularly if you’ve been diagnosed with lupus or another connective tissue disease.
  • #28 Mixed Connective Tissue Disease | Cedars-Sinai
    https://www.cedars-sinai.org/health-library/diseases-and-conditions/m/mixed-connective-tissue-disease.html
    Mixed connective tissue disease is a rheumatic disease that has features shared by lupus, scleroderma, polymyositis or dermatomyositis and rheumatoid arthritis. […] When symptoms of Mixed Connective Tissue Disease first appear, they may suggest that the person affected has any one of several rheumatic diseases. However, when a person has mixed connective tissue disorder, the symptoms aren’t as severe or as widespread as they would be if the person has lupus, scleroderma, rheumatoid arthritis or other rheumatic disorder. […] This condition has many symptoms, including: Pain in two or more joints. Almost all persons with mixed connective tissue disease have this symptom. Three out of four persons with the condition have arthritis and may have the swollen, deformed joints of rheumatoid arthritis. […] Raynaud’s phenomenon. This symptom may appear years before any other. […] Skin changes. These can be like those of lupus or red patches over the knuckles, violet discolorations of the eyelids, loss of hair over the body and abnormal opening up (dilation) of the capillaries of the hands and face that may form a tumor. […] Swollen hands. This is the most common symptom. With time, the fingers look more and more like sausages. […] Muscle weakness. There may sometimes also be tenderness. […] Difficulty swallowing and keeping food in the stomach. […] Loss of sensation in the nerves of the face and head. […] Lung disorders. Nearly 80% of the people with mixed connective tissue disease have some involvement of the lungs. Symptoms can include inflammation of the lining that covers the lungs and the inside of the chest, difficulty breathing or pulmonary hypertension. […] Kidney disease. Only about one out of every 10 patients has this symptom, which is often mild. In some cases, however, it can become life threatening.
  • #29 Mixed connective tissue disease – Wikipedia
    https://en.wikipedia.org/wiki/Mixed_connective_tissue_disease
    The early clinical features of MCTD are nonspecific and may include fatigue, low-grade fever, myalgias, Raynaud phenomenon, swelling of the fingers or hands, arthralgia, esophageal reflux or dysmotility, acrosclerosis (also known as sclerodactyly), mild myositis, and various forms of pulmonary involvement. MCTD can affect nearly any organ system. […] Skin involvement is common in most people with MCTD and is frequently a presenting characteristic. The most prevalent skin change is Raynaud’s phenomenon, which usually appears early in the course of the disease. Swollen digits are a common sign, and on occasion, the complete hand swells. Acrosclerosis, also known as sclerodactyly, can develop with or without proximal scleroderma and is usually a later symptom of the condition. Rashes are found in 50-60% of patients. Common symptoms include photosensitivity and malar rashes, similar to those seen with SLE. Discoid lesions are also occasionally seen. Some patients with MCTD may have scleroderma-like symptoms such as squared telangiectasia on the hands and face, periungual telangiectasia, sclerodactyly, and calcinosis cutis.
  • #30 Mixed connective tissue disease – Wikipedia
    https://en.wikipedia.org/wiki/Mixed_connective_tissue_disease
    The early clinical features of MCTD are nonspecific and may include fatigue, low-grade fever, myalgias, Raynaud phenomenon, swelling of the fingers or hands, arthralgia, esophageal reflux or dysmotility, acrosclerosis (also known as sclerodactyly), mild myositis, and various forms of pulmonary involvement. MCTD can affect nearly any organ system. […] Skin involvement is common in most people with MCTD and is frequently a presenting characteristic. The most prevalent skin change is Raynaud’s phenomenon, which usually appears early in the course of the disease. Swollen digits are a common sign, and on occasion, the complete hand swells. Acrosclerosis, also known as sclerodactyly, can develop with or without proximal scleroderma and is usually a later symptom of the condition. Rashes are found in 50-60% of patients. Common symptoms include photosensitivity and malar rashes, similar to those seen with SLE. Discoid lesions are also occasionally seen. Some patients with MCTD may have scleroderma-like symptoms such as squared telangiectasia on the hands and face, periungual telangiectasia, sclerodactyly, and calcinosis cutis.
  • #31 Mixed Connective Tissue Disease | Cedars-Sinai
    https://www.cedars-sinai.org/health-library/diseases-and-conditions/m/mixed-connective-tissue-disease.html
    Mixed connective tissue disease is a rheumatic disease that has features shared by lupus, scleroderma, polymyositis or dermatomyositis and rheumatoid arthritis. […] When symptoms of Mixed Connective Tissue Disease first appear, they may suggest that the person affected has any one of several rheumatic diseases. However, when a person has mixed connective tissue disorder, the symptoms aren’t as severe or as widespread as they would be if the person has lupus, scleroderma, rheumatoid arthritis or other rheumatic disorder. […] This condition has many symptoms, including: Pain in two or more joints. Almost all persons with mixed connective tissue disease have this symptom. Three out of four persons with the condition have arthritis and may have the swollen, deformed joints of rheumatoid arthritis. […] Raynaud’s phenomenon. This symptom may appear years before any other. […] Skin changes. These can be like those of lupus or red patches over the knuckles, violet discolorations of the eyelids, loss of hair over the body and abnormal opening up (dilation) of the capillaries of the hands and face that may form a tumor. […] Swollen hands. This is the most common symptom. With time, the fingers look more and more like sausages. […] Muscle weakness. There may sometimes also be tenderness. […] Difficulty swallowing and keeping food in the stomach. […] Loss of sensation in the nerves of the face and head. […] Lung disorders. Nearly 80% of the people with mixed connective tissue disease have some involvement of the lungs. Symptoms can include inflammation of the lining that covers the lungs and the inside of the chest, difficulty breathing or pulmonary hypertension. […] Kidney disease. Only about one out of every 10 patients has this symptom, which is often mild. In some cases, however, it can become life threatening.
  • #32 Disease MCTD – ERN ReCONNET | European Reference Network on Rare and Complex Connective Tissue and Musculoskeletal Diseases
    https://reconnet.ern-net.eu/disease-mctd/
    Skin lesions: Raynaud’s phenomenon (up to 96%), Sclerodactyly thickening and tightness of the skin of the fingers or toes, Puffy hands swelling of the hands with thickening of the fingers, Livedo reticularis a mottled reticulated vascular pattern that appears as a lace-like purplish discoloration of the skin, Telangiectasia small dilated blood vessels located near the surface of the skin or mucous membranes, Various skin rashes sun-sensitive rash (on sun-exposed areas, such as the face, neck, or anterior upper chest), malar rash on the face, lesions typically seen in DM (ie. Gottron signs, purple discoloration on the eyelids), Hair loss local or general. […] Lungs: Pleuritis inflammation of the pleura, Interstitial lung disease manifested as cough, shortness of breath, or flu-like symptoms, Pulmonary arterial hypertension caused by thickening and narrowing the lung arteries, that raises the blood pressure in the lungs and causes heart overload.
  • #33 Mixed Connective Tissue Disease – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK542198/
    Pulmonary involvement occurs in almost 73% of patients, with dyspnea being the most common symptom. Other symptoms include dry cough, pleuritic chest pain, wheezing, and hemoptysis. Interstitial lung disease can occur in 27.8% to 47% of patients, with a nonspecific interstitial pneumonitis pattern being the most common. […] MCTD generally has a good prognosis, although it depends on which organ is affected, the degree of inflammation, and the rate of disease progression. The mortality rate varies between 3.1% and 10% in the literature. […] Pulmonary hypertension is the most common cause of death. Interstitial lung disease, infections, cardiovascular complications, and malignancies are other causes.
  • #34 Mixed Connective Tissue Disease | Cedars-Sinai
    https://www.cedars-sinai.org/health-library/diseases-and-conditions/m/mixed-connective-tissue-disease.html
    Mixed connective tissue disease is a rheumatic disease that has features shared by lupus, scleroderma, polymyositis or dermatomyositis and rheumatoid arthritis. […] When symptoms of Mixed Connective Tissue Disease first appear, they may suggest that the person affected has any one of several rheumatic diseases. However, when a person has mixed connective tissue disorder, the symptoms aren’t as severe or as widespread as they would be if the person has lupus, scleroderma, rheumatoid arthritis or other rheumatic disorder. […] This condition has many symptoms, including: Pain in two or more joints. Almost all persons with mixed connective tissue disease have this symptom. Three out of four persons with the condition have arthritis and may have the swollen, deformed joints of rheumatoid arthritis. […] Raynaud’s phenomenon. This symptom may appear years before any other. […] Skin changes. These can be like those of lupus or red patches over the knuckles, violet discolorations of the eyelids, loss of hair over the body and abnormal opening up (dilation) of the capillaries of the hands and face that may form a tumor. […] Swollen hands. This is the most common symptom. With time, the fingers look more and more like sausages. […] Muscle weakness. There may sometimes also be tenderness. […] Difficulty swallowing and keeping food in the stomach. […] Loss of sensation in the nerves of the face and head. […] Lung disorders. Nearly 80% of the people with mixed connective tissue disease have some involvement of the lungs. Symptoms can include inflammation of the lining that covers the lungs and the inside of the chest, difficulty breathing or pulmonary hypertension. […] Kidney disease. Only about one out of every 10 patients has this symptom, which is often mild. In some cases, however, it can become life threatening.
  • #35 Mixed Connective Tissue Disease – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK542198/
    Pulmonary involvement occurs in almost 73% of patients, with dyspnea being the most common symptom. Other symptoms include dry cough, pleuritic chest pain, wheezing, and hemoptysis. Interstitial lung disease can occur in 27.8% to 47% of patients, with a nonspecific interstitial pneumonitis pattern being the most common. […] MCTD generally has a good prognosis, although it depends on which organ is affected, the degree of inflammation, and the rate of disease progression. The mortality rate varies between 3.1% and 10% in the literature. […] Pulmonary hypertension is the most common cause of death. Interstitial lung disease, infections, cardiovascular complications, and malignancies are other causes.
  • #36 Mixed Connective Tissue Disease – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK542198/
    Pulmonary involvement occurs in almost 73% of patients, with dyspnea being the most common symptom. Other symptoms include dry cough, pleuritic chest pain, wheezing, and hemoptysis. Interstitial lung disease can occur in 27.8% to 47% of patients, with a nonspecific interstitial pneumonitis pattern being the most common. […] MCTD generally has a good prognosis, although it depends on which organ is affected, the degree of inflammation, and the rate of disease progression. The mortality rate varies between 3.1% and 10% in the literature. […] Pulmonary hypertension is the most common cause of death. Interstitial lung disease, infections, cardiovascular complications, and malignancies are other causes.
  • #37 Mixed Connective Tissue Disease – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK542198/
    Pulmonary involvement occurs in almost 73% of patients, with dyspnea being the most common symptom. Other symptoms include dry cough, pleuritic chest pain, wheezing, and hemoptysis. Interstitial lung disease can occur in 27.8% to 47% of patients, with a nonspecific interstitial pneumonitis pattern being the most common. […] MCTD generally has a good prognosis, although it depends on which organ is affected, the degree of inflammation, and the rate of disease progression. The mortality rate varies between 3.1% and 10% in the literature. […] Pulmonary hypertension is the most common cause of death. Interstitial lung disease, infections, cardiovascular complications, and malignancies are other causes.
  • #38 Mixed Connective Tissue Disease – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK542198/
    Pulmonary involvement occurs in almost 73% of patients, with dyspnea being the most common symptom. Other symptoms include dry cough, pleuritic chest pain, wheezing, and hemoptysis. Interstitial lung disease can occur in 27.8% to 47% of patients, with a nonspecific interstitial pneumonitis pattern being the most common. […] MCTD generally has a good prognosis, although it depends on which organ is affected, the degree of inflammation, and the rate of disease progression. The mortality rate varies between 3.1% and 10% in the literature. […] Pulmonary hypertension is the most common cause of death. Interstitial lung disease, infections, cardiovascular complications, and malignancies are other causes.
  • #39 Mixed Connective Tissue Disease: A Large Case Serieslogo-32logo-40logo-60NEJM Journal WatchnejmJW_1L_RGB-b
    https://www.jwatch.org/na57354/2024/04/09/mixed-connective-tissue-disease-large-case-series
    During 8 years of follow-up, one quarter of patients eventually met standard criteria for systemic lupus or systemic sclerosis. […] Mixed connective tissue disease (MCTD) is characterized by antibodies against ribonucleoprotein U1 (anti-U1RNP) plus clinical features of one or more differentiated connective tissue diseases. […] Common symptoms were Raynaud phenomenon (91%), arthralgias (83%), puffy fingers (46%), and myalgias (31%). […] During median follow-up of 8 years, 26% of patients progressed to meeting criteria for a differentiated connective tissue disease — mostly systemic lupus or systemic sclerosis. […] During follow-up, interstitial lung disease and pulmonary hypertension were identified in 28% and 8% of patients, respectively.
  • #40 Mixed Connective-Tissue Disease (MCTD) Clinical Presentation: History, Physical
    https://emedicine.medscape.com/article/335815-clinical
    Manifestations of mixed connective-tissue disease (MCTD) can be protean. The principal features of early MCTD are Raynaud phenomenon, inflammatory arthritis, swollen hands, and myalgia/myositis. […] The following may be revealed by history or physical examination: Raynaud phenomenon (96% cumulatively, 74% at presentation); Arthralgia/arthritis (96% cumulatively, 68% at presentation); Esophageal hypomotility (66% cumulatively, 9% at presentation); Pulmonary dysfunction (66% cumulatively, rare at presentation); Swollen hands (66% cumulatively, 45% at presentation); Myositis (51% cumulatively, 2% at presentation); Rash (53% cumulatively, 13% at presentation); Leukopenia (53% cumulatively, 9% at presentation); Sclerodactyly (49% cumulatively, 11% at presentation); Pleuritis/pericarditis (43% cumulatively, 19% at presentation); Pulmonary hypertension (23% cumulatively, rare at presentation).
  • #41 Mixed Connective Tissue Disease: A Large Case Serieslogo-32logo-40logo-60NEJM Journal WatchnejmJW_1L_RGB-b
    https://www.jwatch.org/na57354/2024/04/09/mixed-connective-tissue-disease-large-case-series
    During 8 years of follow-up, one quarter of patients eventually met standard criteria for systemic lupus or systemic sclerosis. […] Mixed connective tissue disease (MCTD) is characterized by antibodies against ribonucleoprotein U1 (anti-U1RNP) plus clinical features of one or more differentiated connective tissue diseases. […] Common symptoms were Raynaud phenomenon (91%), arthralgias (83%), puffy fingers (46%), and myalgias (31%). […] During median follow-up of 8 years, 26% of patients progressed to meeting criteria for a differentiated connective tissue disease — mostly systemic lupus or systemic sclerosis. […] During follow-up, interstitial lung disease and pulmonary hypertension were identified in 28% and 8% of patients, respectively.
  • #42 Mixed Connective Tissue Disease (MCTD) – Bone, Joint, and Muscle Disorders – Merck Manual Consumer Version
    https://www.merckmanuals.com/home/bone-joint-and-muscle-disorders/systemic-rheumatic-diseases/mixed-connective-tissue-disease-mctd
    The lungs are affected in up to 75% of people with mixed connective tissue disease. Fluid may collect around the lungs (pleural effusion). Interstitial lung disease, which affects the air sacs of the lungs, can be the most serious problem because it can cause shortness of breath. Pulmonary hypertension, a condition in which blood pressure in the arteries of the lungs (the pulmonary arteries) is abnormally high, is a major cause of death. […] Disorders that cause inflammation in the heart, such as pericarditis and myocarditis, can develop. Rarely, the heart is weakened, leading to heart failure. Symptoms of heart failure may include fluid retention, shortness of breath, and fatigue. […] The kidneys are affected in approximately 25% of people, and the damage is usually mild compared to the damage caused by lupus.
  • #43 Mixed connective tissue disease – Wikipedia
    https://en.wikipedia.org/wiki/Mixed_connective_tissue_disease
    About 30% of MCTD patients have symptomatic heart disease, whereas up to 40% have subclinical cardiac illness. The most common ECG abnormalities are hemiblock, bundle branch block, and atrioventricular block. Pericarditis is the most common clinical indication of cardiac involvement, affecting up to 40% of patients. […] Renal involvement is a key complication of MCTD. Some studies show that it affects around 25% of people and is generally asymptomatic. The most prevalent finding is membranous nephropathy; however, nephrotic range proteinuria may also occur. Tubulointerstitial nephritis, mesangioproliferative glomerulonephritis, and hypertensive episodes resembling scleroderma renal crisis have also been observed. […] Gastrointestinal involvement is prevalent and overlaps with systemic sclerosis. Esophageal dysfunction is the most common gastrointestinal manifestation. The condition is initially asymptomatic, with difficulty swallowing (dysphagia) being the most prevalent symptom.
  • #44 Mixed connective tissue disease – Wikipedia
    https://en.wikipedia.org/wiki/Mixed_connective_tissue_disease
    About 30% of MCTD patients have symptomatic heart disease, whereas up to 40% have subclinical cardiac illness. The most common ECG abnormalities are hemiblock, bundle branch block, and atrioventricular block. Pericarditis is the most common clinical indication of cardiac involvement, affecting up to 40% of patients. […] Renal involvement is a key complication of MCTD. Some studies show that it affects around 25% of people and is generally asymptomatic. The most prevalent finding is membranous nephropathy; however, nephrotic range proteinuria may also occur. Tubulointerstitial nephritis, mesangioproliferative glomerulonephritis, and hypertensive episodes resembling scleroderma renal crisis have also been observed. […] Gastrointestinal involvement is prevalent and overlaps with systemic sclerosis. Esophageal dysfunction is the most common gastrointestinal manifestation. The condition is initially asymptomatic, with difficulty swallowing (dysphagia) being the most prevalent symptom.
  • #45 Mixed Connective-Tissue Disease (MCTD) Clinical Presentation: History, Physical
    https://emedicine.medscape.com/article/335815-clinical
    Manifestations of mixed connective-tissue disease (MCTD) can be protean. The principal features of early MCTD are Raynaud phenomenon, inflammatory arthritis, swollen hands, and myalgia/myositis. […] The following may be revealed by history or physical examination: Raynaud phenomenon (96% cumulatively, 74% at presentation); Arthralgia/arthritis (96% cumulatively, 68% at presentation); Esophageal hypomotility (66% cumulatively, 9% at presentation); Pulmonary dysfunction (66% cumulatively, rare at presentation); Swollen hands (66% cumulatively, 45% at presentation); Myositis (51% cumulatively, 2% at presentation); Rash (53% cumulatively, 13% at presentation); Leukopenia (53% cumulatively, 9% at presentation); Sclerodactyly (49% cumulatively, 11% at presentation); Pleuritis/pericarditis (43% cumulatively, 19% at presentation); Pulmonary hypertension (23% cumulatively, rare at presentation).
  • #46 Mixed connective tissue disease – Wikipedia
    https://en.wikipedia.org/wiki/Mixed_connective_tissue_disease
    About 30% of MCTD patients have symptomatic heart disease, whereas up to 40% have subclinical cardiac illness. The most common ECG abnormalities are hemiblock, bundle branch block, and atrioventricular block. Pericarditis is the most common clinical indication of cardiac involvement, affecting up to 40% of patients. […] Renal involvement is a key complication of MCTD. Some studies show that it affects around 25% of people and is generally asymptomatic. The most prevalent finding is membranous nephropathy; however, nephrotic range proteinuria may also occur. Tubulointerstitial nephritis, mesangioproliferative glomerulonephritis, and hypertensive episodes resembling scleroderma renal crisis have also been observed. […] Gastrointestinal involvement is prevalent and overlaps with systemic sclerosis. Esophageal dysfunction is the most common gastrointestinal manifestation. The condition is initially asymptomatic, with difficulty swallowing (dysphagia) being the most prevalent symptom.
  • #47 Mixed connective tissue disease – Wikipedia
    https://en.wikipedia.org/wiki/Mixed_connective_tissue_disease
    About 30% of MCTD patients have symptomatic heart disease, whereas up to 40% have subclinical cardiac illness. The most common ECG abnormalities are hemiblock, bundle branch block, and atrioventricular block. Pericarditis is the most common clinical indication of cardiac involvement, affecting up to 40% of patients. […] Renal involvement is a key complication of MCTD. Some studies show that it affects around 25% of people and is generally asymptomatic. The most prevalent finding is membranous nephropathy; however, nephrotic range proteinuria may also occur. Tubulointerstitial nephritis, mesangioproliferative glomerulonephritis, and hypertensive episodes resembling scleroderma renal crisis have also been observed. […] Gastrointestinal involvement is prevalent and overlaps with systemic sclerosis. Esophageal dysfunction is the most common gastrointestinal manifestation. The condition is initially asymptomatic, with difficulty swallowing (dysphagia) being the most prevalent symptom.
  • #48 Mixed Connective Tissue Disease (MCTD) – Bone, Joint, and Muscle Disorders – Merck Manual Consumer Version
    https://www.merckmanuals.com/home/bone-joint-and-muscle-disorders/systemic-rheumatic-diseases/mixed-connective-tissue-disease-mctd
    The lungs are affected in up to 75% of people with mixed connective tissue disease. Fluid may collect around the lungs (pleural effusion). Interstitial lung disease, which affects the air sacs of the lungs, can be the most serious problem because it can cause shortness of breath. Pulmonary hypertension, a condition in which blood pressure in the arteries of the lungs (the pulmonary arteries) is abnormally high, is a major cause of death. […] Disorders that cause inflammation in the heart, such as pericarditis and myocarditis, can develop. Rarely, the heart is weakened, leading to heart failure. Symptoms of heart failure may include fluid retention, shortness of breath, and fatigue. […] The kidneys are affected in approximately 25% of people, and the damage is usually mild compared to the damage caused by lupus.
  • #49 Mixed Connective Tissue Disease (MCTD) – Bone, Joint, and Muscle Disorders – Merck Manual Consumer Version
    https://www.merckmanuals.com/home/bone-joint-and-muscle-disorders/systemic-rheumatic-diseases/mixed-connective-tissue-disease-mctd
    The lungs are affected in up to 75% of people with mixed connective tissue disease. Fluid may collect around the lungs (pleural effusion). Interstitial lung disease, which affects the air sacs of the lungs, can be the most serious problem because it can cause shortness of breath. Pulmonary hypertension, a condition in which blood pressure in the arteries of the lungs (the pulmonary arteries) is abnormally high, is a major cause of death. […] Disorders that cause inflammation in the heart, such as pericarditis and myocarditis, can develop. Rarely, the heart is weakened, leading to heart failure. Symptoms of heart failure may include fluid retention, shortness of breath, and fatigue. […] The kidneys are affected in approximately 25% of people, and the damage is usually mild compared to the damage caused by lupus.
  • #50 Mixed connective tissue disease – Wikipedia
    https://en.wikipedia.org/wiki/Mixed_connective_tissue_disease
    About 30% of MCTD patients have symptomatic heart disease, whereas up to 40% have subclinical cardiac illness. The most common ECG abnormalities are hemiblock, bundle branch block, and atrioventricular block. Pericarditis is the most common clinical indication of cardiac involvement, affecting up to 40% of patients. […] Renal involvement is a key complication of MCTD. Some studies show that it affects around 25% of people and is generally asymptomatic. The most prevalent finding is membranous nephropathy; however, nephrotic range proteinuria may also occur. Tubulointerstitial nephritis, mesangioproliferative glomerulonephritis, and hypertensive episodes resembling scleroderma renal crisis have also been observed. […] Gastrointestinal involvement is prevalent and overlaps with systemic sclerosis. Esophageal dysfunction is the most common gastrointestinal manifestation. The condition is initially asymptomatic, with difficulty swallowing (dysphagia) being the most prevalent symptom.
  • #51 Mixed connective tissue disease – Wikipedia
    https://en.wikipedia.org/wiki/Mixed_connective_tissue_disease
    About 30% of MCTD patients have symptomatic heart disease, whereas up to 40% have subclinical cardiac illness. The most common ECG abnormalities are hemiblock, bundle branch block, and atrioventricular block. Pericarditis is the most common clinical indication of cardiac involvement, affecting up to 40% of patients. […] Renal involvement is a key complication of MCTD. Some studies show that it affects around 25% of people and is generally asymptomatic. The most prevalent finding is membranous nephropathy; however, nephrotic range proteinuria may also occur. Tubulointerstitial nephritis, mesangioproliferative glomerulonephritis, and hypertensive episodes resembling scleroderma renal crisis have also been observed. […] Gastrointestinal involvement is prevalent and overlaps with systemic sclerosis. Esophageal dysfunction is the most common gastrointestinal manifestation. The condition is initially asymptomatic, with difficulty swallowing (dysphagia) being the most prevalent symptom.
  • #52 Mixed connective tissue disease – Wikipedia
    https://en.wikipedia.org/wiki/Mixed_connective_tissue_disease
    About 30% of MCTD patients have symptomatic heart disease, whereas up to 40% have subclinical cardiac illness. The most common ECG abnormalities are hemiblock, bundle branch block, and atrioventricular block. Pericarditis is the most common clinical indication of cardiac involvement, affecting up to 40% of patients. […] Renal involvement is a key complication of MCTD. Some studies show that it affects around 25% of people and is generally asymptomatic. The most prevalent finding is membranous nephropathy; however, nephrotic range proteinuria may also occur. Tubulointerstitial nephritis, mesangioproliferative glomerulonephritis, and hypertensive episodes resembling scleroderma renal crisis have also been observed. […] Gastrointestinal involvement is prevalent and overlaps with systemic sclerosis. Esophageal dysfunction is the most common gastrointestinal manifestation. The condition is initially asymptomatic, with difficulty swallowing (dysphagia) being the most prevalent symptom.
  • #53 Mixed Connective Tissue Disease – MCTDfoundation.org
    https://mctdfoundation.org/
    MCTD is an autoimmune disease which occurs when a person’s immune system decides to ramp up and fight against the enemy…YOU. […] Symptoms (Most common early symptoms) Raynaud’s Phenomenon is often the first symptom and precedes the rest by many months or years, occurring in 85% of patients. General feeling of being unwell. Swollen fingers or hands, “Sausage Fingers”. Muscle and joint pains. Muscle weakness, usually proximal, with or without tenderness. Rashes, similar to rashes of Lupus (“Butterfly” or Malar Rash) and Dermatomyositis. Red or brown patches may appear over the knuckles, violet colored eyelids (Heliotrope Rash). Difficulty swallowing. […] Looking at the above complications is pretty frightening. Keep in mind that of all the people diagnosed with this disease, 13% may develop severe complications in 6-12 years. The other 87% will manage their disease with medication and lifestyle changes.
  • #54 Mixed connective tissue disease presenting with progressive scleroderma symptoms in a 10-year-old girl
    https://pmc.ncbi.nlm.nih.gov/articles/PMC3858664/
    Mixed connective tissue disease (MCTD) is a systemic inflammatory disease affecting connective tissue with the underlying autoimmunological mechanism. The core of MCTD is an appearance of symptoms of several other inflammatory diseases of connective tissue systemic lupus erythematosus, systemic scleroderma, poly- or dermatomyositis, rheumatoid arthritis at the same time, accompanied by a high level of anti-ribonucleoprotein antibodies (anti-U1RNP). […] Symptoms of MCTD usually develop gradually over a few years. The primary clinical features are Raynaud’s phenomenon, swollen fingers (sausage digits) or diffuse swelling of hands, arthralgia with or without arthritis, gastroesophageal reflux or esophageal dysmotility, sclerodactyly, myalgia or inflammatory myopathy. Additional symptoms might include: rashes, alopecia, anemia, leucopenia, lymphadenopathy, secondary Sjogren’s syndrome, trigeminal neuralgia as well as mild fever and fatigue.
  • #55 Volvulus and Under Appreciated Complication of Mixed Connective Tissue Disease: A Case Report | Bortz | Journal of Medical Cases
    https://www.journalmc.org/index.php/JMC/article/view/3014/2360
    The primary issue is dysmotility of the smooth muscle wall, which presents with a wide array of symptoms, including nausea, vomiting, diarrhea with alternating constipation, as well as fecal incontinence. When persistent and severe, malabsorption occurs, with subsequent weight loss and malnutrition. […] Volvulus in rheumatologic disorders is most commonly associated with SSc. Although the mechanism is not fully understood, colonic histologic findings show tissue deposition of IgG and C3, suggesting that volvulus in SSc is due to collagen deposition and chronic inflammation that results in muscle atrophy, fibrosis, and eventual disordered contractility and motility of the intestinal smooth muscle wall. This is the same histologic pathway that leads to the esophageal dysmotility seen in MCTD. Thus, although there has never been a reported case of volvulus in a patient with MCTD, it is likely that the pathophysiology is the same. Recognizing overlap features of collagen vascular diseases to form an accurate diagnosis is vital in establishing proper treatment and prognosis.
  • #56 What Is Mixed Connective Tissue Disease? | YourCareEverywhere
    https://yourcareeverywhere.com/health-research/disease-and-conditions/what-is-mixed-connective-tissue-disease-.html
    Mixed connective tissue disease (MCTD) is a rare autoimmune disorder, in which a persons immune system attacks parts of their body. MCTD got its name because it has symptoms and signs of several different autoimmune diseases that affect connective tissue, including lupus, scleroderma, and polymyositis. […] MCTD can develop at any age, but symptoms of mixed connective tissue disease are more likely to begin between the ages of 15 and 25. Early symptoms of mixed connective tissue disease may include fatigue, muscle and joint pain, and mild fever. Fingers can feel cold and numb and may swell until they have a sausage-like shape, according the Arthritis Foundation. […] GARD points out some or all of these additional symptoms of mixed connective tissue disease may occur: Skin changes, such as lupus-like rashes (including reddish brown patches), reddish patches over the knuckles, violet coloring of the eyelids, and dilation of small blood vessels around the fingernails; Dysfunction of the esophagus, causing problems with swallowing; Hair loss (alopecia); Abnormal lung function, sometimes leading to breathing difficulties or pulmonary hypertension; Heart involvement (less common in MCTD than lung problems), including inflammation in parts of the heart and a leaking of the aortic valve; Lymphadenopathy (swollen lymph glands); Kidney disease; Neurologic abnormalities (affecting about 10 percent of people with MCTD) including seizures, vascular headaches, cerebral thrombosis (a blood clot blocking blood flow to the brain), and a variety of neuropathies various sensory disturbances in multiple areas of the body; Anemia (too few red blood cells) and leukopenia (unusually low counts of infection fighting white blood cells) in 30 to 40 percent of those with MCTD; Splenomegaly (enlargement of the spleen); Hepatomegaly (enlargement of the liver). […] The disease does progress in about 13 percent of those with MCTD, and complications can potentially be fatal.
  • #57 Mixed Connective-Tissue Disease (MCTD) Clinical Presentation: History, Physical
    https://emedicine.medscape.com/article/335815-clinical
    The experience with a large single-center cohort of MCTD patients suggests that the following three clinical subclusters of MCTD manifestations may exist: Predominantly vascular manifestations, including Raynaud phenomenon, pulmonary hypertension, and antiphospholipid syndrome with thromboses (this group is at the greatest risk of mortality); A polymyositislike picture, including interstitial lung disease, esophageal dysmotility, and myositis; Erosive polyarthritis with anticyclic citrullinated peptide (anti-CCP) antibodies and sclerodactyly. […] Severe Raynaud phenomenon may result in digital vascular infarcts and ulcerations. […] Protein-losing gastroenteropathy is a rare feature of MCTD, but may be the initial manifestation of the disorder. Patients present with generalized edema, ascites, and pleural and pericardial effusions due to to hypoproteinemia from leakage of serum protein into the gastrointestinal tract. […] Trigeminal neuralgia is common in MCTD; it may be the initial manifestation and is often bilateral.
  • #58 Mixed connective tissue disease – Wikipedia
    https://en.wikipedia.org/wiki/Mixed_connective_tissue_disease
    About 30% of MCTD patients have symptomatic heart disease, whereas up to 40% have subclinical cardiac illness. The most common ECG abnormalities are hemiblock, bundle branch block, and atrioventricular block. Pericarditis is the most common clinical indication of cardiac involvement, affecting up to 40% of patients. […] Renal involvement is a key complication of MCTD. Some studies show that it affects around 25% of people and is generally asymptomatic. The most prevalent finding is membranous nephropathy; however, nephrotic range proteinuria may also occur. Tubulointerstitial nephritis, mesangioproliferative glomerulonephritis, and hypertensive episodes resembling scleroderma renal crisis have also been observed. […] Gastrointestinal involvement is prevalent and overlaps with systemic sclerosis. Esophageal dysfunction is the most common gastrointestinal manifestation. The condition is initially asymptomatic, with difficulty swallowing (dysphagia) being the most prevalent symptom.
  • #59 Mixed Connective Tissue Disease (MCTD) – Bone, Joint, and Muscle Disorders – Merck Manual Consumer Version
    https://www.merckmanuals.com/home/bone-joint-and-muscle-disorders/systemic-rheumatic-diseases/mixed-connective-tissue-disease-mctd
    The lungs are affected in up to 75% of people with mixed connective tissue disease. Fluid may collect around the lungs (pleural effusion). Interstitial lung disease, which affects the air sacs of the lungs, can be the most serious problem because it can cause shortness of breath. Pulmonary hypertension, a condition in which blood pressure in the arteries of the lungs (the pulmonary arteries) is abnormally high, is a major cause of death. […] Disorders that cause inflammation in the heart, such as pericarditis and myocarditis, can develop. Rarely, the heart is weakened, leading to heart failure. Symptoms of heart failure may include fluid retention, shortness of breath, and fatigue. […] The kidneys are affected in approximately 25% of people, and the damage is usually mild compared to the damage caused by lupus.
  • #60 Mixed connective tissue disease – Wikipedia
    https://en.wikipedia.org/wiki/Mixed_connective_tissue_disease
    About 30% of MCTD patients have symptomatic heart disease, whereas up to 40% have subclinical cardiac illness. The most common ECG abnormalities are hemiblock, bundle branch block, and atrioventricular block. Pericarditis is the most common clinical indication of cardiac involvement, affecting up to 40% of patients. […] Renal involvement is a key complication of MCTD. Some studies show that it affects around 25% of people and is generally asymptomatic. The most prevalent finding is membranous nephropathy; however, nephrotic range proteinuria may also occur. Tubulointerstitial nephritis, mesangioproliferative glomerulonephritis, and hypertensive episodes resembling scleroderma renal crisis have also been observed. […] Gastrointestinal involvement is prevalent and overlaps with systemic sclerosis. Esophageal dysfunction is the most common gastrointestinal manifestation. The condition is initially asymptomatic, with difficulty swallowing (dysphagia) being the most prevalent symptom.
  • #61 Mixed connective tissue disease – Wikipedia
    https://en.wikipedia.org/wiki/Mixed_connective_tissue_disease
    About 30% of MCTD patients have symptomatic heart disease, whereas up to 40% have subclinical cardiac illness. The most common ECG abnormalities are hemiblock, bundle branch block, and atrioventricular block. Pericarditis is the most common clinical indication of cardiac involvement, affecting up to 40% of patients. […] Renal involvement is a key complication of MCTD. Some studies show that it affects around 25% of people and is generally asymptomatic. The most prevalent finding is membranous nephropathy; however, nephrotic range proteinuria may also occur. Tubulointerstitial nephritis, mesangioproliferative glomerulonephritis, and hypertensive episodes resembling scleroderma renal crisis have also been observed. […] Gastrointestinal involvement is prevalent and overlaps with systemic sclerosis. Esophageal dysfunction is the most common gastrointestinal manifestation. The condition is initially asymptomatic, with difficulty swallowing (dysphagia) being the most prevalent symptom.
  • #62 Mixed connective tissue disease – Wikipedia
    https://en.wikipedia.org/wiki/Mixed_connective_tissue_disease
    About 30% of MCTD patients have symptomatic heart disease, whereas up to 40% have subclinical cardiac illness. The most common ECG abnormalities are hemiblock, bundle branch block, and atrioventricular block. Pericarditis is the most common clinical indication of cardiac involvement, affecting up to 40% of patients. […] Renal involvement is a key complication of MCTD. Some studies show that it affects around 25% of people and is generally asymptomatic. The most prevalent finding is membranous nephropathy; however, nephrotic range proteinuria may also occur. Tubulointerstitial nephritis, mesangioproliferative glomerulonephritis, and hypertensive episodes resembling scleroderma renal crisis have also been observed. […] Gastrointestinal involvement is prevalent and overlaps with systemic sclerosis. Esophageal dysfunction is the most common gastrointestinal manifestation. The condition is initially asymptomatic, with difficulty swallowing (dysphagia) being the most prevalent symptom.
  • #63 Mixed connective tissue disease – Wikipedia
    https://en.wikipedia.org/wiki/Mixed_connective_tissue_disease
    About 30% of MCTD patients have symptomatic heart disease, whereas up to 40% have subclinical cardiac illness. The most common ECG abnormalities are hemiblock, bundle branch block, and atrioventricular block. Pericarditis is the most common clinical indication of cardiac involvement, affecting up to 40% of patients. […] Renal involvement is a key complication of MCTD. Some studies show that it affects around 25% of people and is generally asymptomatic. The most prevalent finding is membranous nephropathy; however, nephrotic range proteinuria may also occur. Tubulointerstitial nephritis, mesangioproliferative glomerulonephritis, and hypertensive episodes resembling scleroderma renal crisis have also been observed. […] Gastrointestinal involvement is prevalent and overlaps with systemic sclerosis. Esophageal dysfunction is the most common gastrointestinal manifestation. The condition is initially asymptomatic, with difficulty swallowing (dysphagia) being the most prevalent symptom.
  • #64 Mixed connective tissue disease – Wikipedia
    https://en.wikipedia.org/wiki/Mixed_connective_tissue_disease
    About 30% of MCTD patients have symptomatic heart disease, whereas up to 40% have subclinical cardiac illness. The most common ECG abnormalities are hemiblock, bundle branch block, and atrioventricular block. Pericarditis is the most common clinical indication of cardiac involvement, affecting up to 40% of patients. […] Renal involvement is a key complication of MCTD. Some studies show that it affects around 25% of people and is generally asymptomatic. The most prevalent finding is membranous nephropathy; however, nephrotic range proteinuria may also occur. Tubulointerstitial nephritis, mesangioproliferative glomerulonephritis, and hypertensive episodes resembling scleroderma renal crisis have also been observed. […] Gastrointestinal involvement is prevalent and overlaps with systemic sclerosis. Esophageal dysfunction is the most common gastrointestinal manifestation. The condition is initially asymptomatic, with difficulty swallowing (dysphagia) being the most prevalent symptom.
  • #65 Mixed connective tissue disease – Wikipedia
    https://en.wikipedia.org/wiki/Mixed_connective_tissue_disease
    The original clinical criteria of MCTD stressed the absence of central nervous system (CNS) involvement. For instance, people with MCTD do not suffer serious problems such as cerebritis, psychosis, or seizures. However, roughly 25% of individuals have some form of CNS illness. The most common central nervous system manifestation is trigeminal (fifth cranial) nerve neuropathy, which may be a patient’s first symptom. Headaches are prevalent and are typically vascular in origin. Headaches can also be due to aseptic meningitis. Sensorineural hearing loss is frequently overlooked; however, it is estimated to occur in 50% of MCTD patients. […] Hematologic abnormalities are prevalent in MCTD. Mild lymphadenopathy affects 25-50% of patients, and it is frequently an early symptom of the disease. This usually subsides over time; however, it may reappear during flares. Between 50% and 75% of people with MCTD will experience anemia, lymphopenia, or leukopenia. Anemia of chronic disease is the most common type of anemia seen in MCTD.
  • #66 What Is Mixed Connective Tissue Disease (MCTD)? Symptoms, Diagnosis, Treatment, and More
    https://www.webmd.com/lupus/what-is-mixed-connective-tissue-disease
    Abnormalities in your lungs can cause a medical condition called pulmonary hypertension (high blood pressure in the arteries that carry blood from your heart to your lungs). […] Heart conditions such as pericarditis, myocarditis, and aortic insufficiency can develop. […] Kidney disease is also another sign that can show up. […] You may be among the 30% to 40% of people who get blood disorders like anemia (not enough red blood cells) and leukopenia (not enough white blood cells). […] There is a roughly 10% chance of developing neurological abnormalities. […] Your lymph nodes, spleen, and liver may become enlarged. Sometimes the intestines are also affected.
  • #67 Mixed Connective-Tissue Disease (MCTD) Clinical Presentation: History, Physical
    https://emedicine.medscape.com/article/335815-clinical
    The experience with a large single-center cohort of MCTD patients suggests that the following three clinical subclusters of MCTD manifestations may exist: Predominantly vascular manifestations, including Raynaud phenomenon, pulmonary hypertension, and antiphospholipid syndrome with thromboses (this group is at the greatest risk of mortality); A polymyositislike picture, including interstitial lung disease, esophageal dysmotility, and myositis; Erosive polyarthritis with anticyclic citrullinated peptide (anti-CCP) antibodies and sclerodactyly. […] Severe Raynaud phenomenon may result in digital vascular infarcts and ulcerations. […] Protein-losing gastroenteropathy is a rare feature of MCTD, but may be the initial manifestation of the disorder. Patients present with generalized edema, ascites, and pleural and pericardial effusions due to to hypoproteinemia from leakage of serum protein into the gastrointestinal tract. […] Trigeminal neuralgia is common in MCTD; it may be the initial manifestation and is often bilateral.
  • #68 Mixed connective tissue disease – Wikipedia
    https://en.wikipedia.org/wiki/Mixed_connective_tissue_disease
    The original clinical criteria of MCTD stressed the absence of central nervous system (CNS) involvement. For instance, people with MCTD do not suffer serious problems such as cerebritis, psychosis, or seizures. However, roughly 25% of individuals have some form of CNS illness. The most common central nervous system manifestation is trigeminal (fifth cranial) nerve neuropathy, which may be a patient’s first symptom. Headaches are prevalent and are typically vascular in origin. Headaches can also be due to aseptic meningitis. Sensorineural hearing loss is frequently overlooked; however, it is estimated to occur in 50% of MCTD patients. […] Hematologic abnormalities are prevalent in MCTD. Mild lymphadenopathy affects 25-50% of patients, and it is frequently an early symptom of the disease. This usually subsides over time; however, it may reappear during flares. Between 50% and 75% of people with MCTD will experience anemia, lymphopenia, or leukopenia. Anemia of chronic disease is the most common type of anemia seen in MCTD.
  • #69 Mixed connective tissue disease – Wikipedia
    https://en.wikipedia.org/wiki/Mixed_connective_tissue_disease
    The original clinical criteria of MCTD stressed the absence of central nervous system (CNS) involvement. For instance, people with MCTD do not suffer serious problems such as cerebritis, psychosis, or seizures. However, roughly 25% of individuals have some form of CNS illness. The most common central nervous system manifestation is trigeminal (fifth cranial) nerve neuropathy, which may be a patient’s first symptom. Headaches are prevalent and are typically vascular in origin. Headaches can also be due to aseptic meningitis. Sensorineural hearing loss is frequently overlooked; however, it is estimated to occur in 50% of MCTD patients. […] Hematologic abnormalities are prevalent in MCTD. Mild lymphadenopathy affects 25-50% of patients, and it is frequently an early symptom of the disease. This usually subsides over time; however, it may reappear during flares. Between 50% and 75% of people with MCTD will experience anemia, lymphopenia, or leukopenia. Anemia of chronic disease is the most common type of anemia seen in MCTD.
  • #70 Mixed connective tissue disease – Wikipedia
    https://en.wikipedia.org/wiki/Mixed_connective_tissue_disease
    The original clinical criteria of MCTD stressed the absence of central nervous system (CNS) involvement. For instance, people with MCTD do not suffer serious problems such as cerebritis, psychosis, or seizures. However, roughly 25% of individuals have some form of CNS illness. The most common central nervous system manifestation is trigeminal (fifth cranial) nerve neuropathy, which may be a patient’s first symptom. Headaches are prevalent and are typically vascular in origin. Headaches can also be due to aseptic meningitis. Sensorineural hearing loss is frequently overlooked; however, it is estimated to occur in 50% of MCTD patients. […] Hematologic abnormalities are prevalent in MCTD. Mild lymphadenopathy affects 25-50% of patients, and it is frequently an early symptom of the disease. This usually subsides over time; however, it may reappear during flares. Between 50% and 75% of people with MCTD will experience anemia, lymphopenia, or leukopenia. Anemia of chronic disease is the most common type of anemia seen in MCTD.
  • #71 Mixed connective tissue disease – Wikipedia
    https://en.wikipedia.org/wiki/Mixed_connective_tissue_disease
    The original clinical criteria of MCTD stressed the absence of central nervous system (CNS) involvement. For instance, people with MCTD do not suffer serious problems such as cerebritis, psychosis, or seizures. However, roughly 25% of individuals have some form of CNS illness. The most common central nervous system manifestation is trigeminal (fifth cranial) nerve neuropathy, which may be a patient’s first symptom. Headaches are prevalent and are typically vascular in origin. Headaches can also be due to aseptic meningitis. Sensorineural hearing loss is frequently overlooked; however, it is estimated to occur in 50% of MCTD patients. […] Hematologic abnormalities are prevalent in MCTD. Mild lymphadenopathy affects 25-50% of patients, and it is frequently an early symptom of the disease. This usually subsides over time; however, it may reappear during flares. Between 50% and 75% of people with MCTD will experience anemia, lymphopenia, or leukopenia. Anemia of chronic disease is the most common type of anemia seen in MCTD.
  • #72 What Is Mixed Connective Tissue Disease? | YourCareEverywhere
    https://yourcareeverywhere.com/health-research/disease-and-conditions/what-is-mixed-connective-tissue-disease-.html
    Mixed connective tissue disease (MCTD) is a rare autoimmune disorder, in which a persons immune system attacks parts of their body. MCTD got its name because it has symptoms and signs of several different autoimmune diseases that affect connective tissue, including lupus, scleroderma, and polymyositis. […] MCTD can develop at any age, but symptoms of mixed connective tissue disease are more likely to begin between the ages of 15 and 25. Early symptoms of mixed connective tissue disease may include fatigue, muscle and joint pain, and mild fever. Fingers can feel cold and numb and may swell until they have a sausage-like shape, according the Arthritis Foundation. […] GARD points out some or all of these additional symptoms of mixed connective tissue disease may occur: Skin changes, such as lupus-like rashes (including reddish brown patches), reddish patches over the knuckles, violet coloring of the eyelids, and dilation of small blood vessels around the fingernails; Dysfunction of the esophagus, causing problems with swallowing; Hair loss (alopecia); Abnormal lung function, sometimes leading to breathing difficulties or pulmonary hypertension; Heart involvement (less common in MCTD than lung problems), including inflammation in parts of the heart and a leaking of the aortic valve; Lymphadenopathy (swollen lymph glands); Kidney disease; Neurologic abnormalities (affecting about 10 percent of people with MCTD) including seizures, vascular headaches, cerebral thrombosis (a blood clot blocking blood flow to the brain), and a variety of neuropathies various sensory disturbances in multiple areas of the body; Anemia (too few red blood cells) and leukopenia (unusually low counts of infection fighting white blood cells) in 30 to 40 percent of those with MCTD; Splenomegaly (enlargement of the spleen); Hepatomegaly (enlargement of the liver). […] The disease does progress in about 13 percent of those with MCTD, and complications can potentially be fatal.
  • #73 Mixed connective tissue disease – Wikipedia
    https://en.wikipedia.org/wiki/Mixed_connective_tissue_disease
    The original clinical criteria of MCTD stressed the absence of central nervous system (CNS) involvement. For instance, people with MCTD do not suffer serious problems such as cerebritis, psychosis, or seizures. However, roughly 25% of individuals have some form of CNS illness. The most common central nervous system manifestation is trigeminal (fifth cranial) nerve neuropathy, which may be a patient’s first symptom. Headaches are prevalent and are typically vascular in origin. Headaches can also be due to aseptic meningitis. Sensorineural hearing loss is frequently overlooked; however, it is estimated to occur in 50% of MCTD patients. […] Hematologic abnormalities are prevalent in MCTD. Mild lymphadenopathy affects 25-50% of patients, and it is frequently an early symptom of the disease. This usually subsides over time; however, it may reappear during flares. Between 50% and 75% of people with MCTD will experience anemia, lymphopenia, or leukopenia. Anemia of chronic disease is the most common type of anemia seen in MCTD.
  • #74 Mixed connective tissue disease – Wikipedia
    https://en.wikipedia.org/wiki/Mixed_connective_tissue_disease
    The original clinical criteria of MCTD stressed the absence of central nervous system (CNS) involvement. For instance, people with MCTD do not suffer serious problems such as cerebritis, psychosis, or seizures. However, roughly 25% of individuals have some form of CNS illness. The most common central nervous system manifestation is trigeminal (fifth cranial) nerve neuropathy, which may be a patient’s first symptom. Headaches are prevalent and are typically vascular in origin. Headaches can also be due to aseptic meningitis. Sensorineural hearing loss is frequently overlooked; however, it is estimated to occur in 50% of MCTD patients. […] Hematologic abnormalities are prevalent in MCTD. Mild lymphadenopathy affects 25-50% of patients, and it is frequently an early symptom of the disease. This usually subsides over time; however, it may reappear during flares. Between 50% and 75% of people with MCTD will experience anemia, lymphopenia, or leukopenia. Anemia of chronic disease is the most common type of anemia seen in MCTD.
  • #75 Mixed connective tissue disease – Wikipedia
    https://en.wikipedia.org/wiki/Mixed_connective_tissue_disease
    The original clinical criteria of MCTD stressed the absence of central nervous system (CNS) involvement. For instance, people with MCTD do not suffer serious problems such as cerebritis, psychosis, or seizures. However, roughly 25% of individuals have some form of CNS illness. The most common central nervous system manifestation is trigeminal (fifth cranial) nerve neuropathy, which may be a patient’s first symptom. Headaches are prevalent and are typically vascular in origin. Headaches can also be due to aseptic meningitis. Sensorineural hearing loss is frequently overlooked; however, it is estimated to occur in 50% of MCTD patients. […] Hematologic abnormalities are prevalent in MCTD. Mild lymphadenopathy affects 25-50% of patients, and it is frequently an early symptom of the disease. This usually subsides over time; however, it may reappear during flares. Between 50% and 75% of people with MCTD will experience anemia, lymphopenia, or leukopenia. Anemia of chronic disease is the most common type of anemia seen in MCTD.
  • #76 What Is Mixed Connective Tissue Disease (MCTD)? Symptoms, Diagnosis, Treatment, and More
    https://www.webmd.com/lupus/what-is-mixed-connective-tissue-disease
    Abnormalities in your lungs can cause a medical condition called pulmonary hypertension (high blood pressure in the arteries that carry blood from your heart to your lungs). […] Heart conditions such as pericarditis, myocarditis, and aortic insufficiency can develop. […] Kidney disease is also another sign that can show up. […] You may be among the 30% to 40% of people who get blood disorders like anemia (not enough red blood cells) and leukopenia (not enough white blood cells). […] There is a roughly 10% chance of developing neurological abnormalities. […] Your lymph nodes, spleen, and liver may become enlarged. Sometimes the intestines are also affected.
  • #77 What Is Mixed Connective Tissue Disease (MCTD)? Symptoms, Diagnosis, Treatment, and More
    https://www.webmd.com/lupus/what-is-mixed-connective-tissue-disease
    Abnormalities in your lungs can cause a medical condition called pulmonary hypertension (high blood pressure in the arteries that carry blood from your heart to your lungs). […] Heart conditions such as pericarditis, myocarditis, and aortic insufficiency can develop. […] Kidney disease is also another sign that can show up. […] You may be among the 30% to 40% of people who get blood disorders like anemia (not enough red blood cells) and leukopenia (not enough white blood cells). […] There is a roughly 10% chance of developing neurological abnormalities. […] Your lymph nodes, spleen, and liver may become enlarged. Sometimes the intestines are also affected.
  • #78 Mixed connective tissue disease – Wikipedia
    https://en.wikipedia.org/wiki/Mixed_connective_tissue_disease
    The original clinical criteria of MCTD stressed the absence of central nervous system (CNS) involvement. For instance, people with MCTD do not suffer serious problems such as cerebritis, psychosis, or seizures. However, roughly 25% of individuals have some form of CNS illness. The most common central nervous system manifestation is trigeminal (fifth cranial) nerve neuropathy, which may be a patient’s first symptom. Headaches are prevalent and are typically vascular in origin. Headaches can also be due to aseptic meningitis. Sensorineural hearing loss is frequently overlooked; however, it is estimated to occur in 50% of MCTD patients. […] Hematologic abnormalities are prevalent in MCTD. Mild lymphadenopathy affects 25-50% of patients, and it is frequently an early symptom of the disease. This usually subsides over time; however, it may reappear during flares. Between 50% and 75% of people with MCTD will experience anemia, lymphopenia, or leukopenia. Anemia of chronic disease is the most common type of anemia seen in MCTD.
  • #79 What Is Mixed Connective Tissue Disease (MCTD)? Symptoms, Diagnosis, Treatment, and More
    https://www.webmd.com/lupus/what-is-mixed-connective-tissue-disease
    Abnormalities in your lungs can cause a medical condition called pulmonary hypertension (high blood pressure in the arteries that carry blood from your heart to your lungs). […] Heart conditions such as pericarditis, myocarditis, and aortic insufficiency can develop. […] Kidney disease is also another sign that can show up. […] You may be among the 30% to 40% of people who get blood disorders like anemia (not enough red blood cells) and leukopenia (not enough white blood cells). […] There is a roughly 10% chance of developing neurological abnormalities. […] Your lymph nodes, spleen, and liver may become enlarged. Sometimes the intestines are also affected.
  • #80 Mixed connective tissue disease – Wikipedia
    https://en.wikipedia.org/wiki/Mixed_connective_tissue_disease
    Malaise and low-grade fever may develop with MCTD. The condition can cause elevated body temperatures without a clear cause. Sicca symptoms are frequent in MCTD, affecting 25-50% of individuals. […] The long-term course of MCTD may vary. Long-term follow-up studies have shown that MCTD can progress to a moderate disease with a favorable prognosis, or patients can acquire a significant condition with vascular alterations driven by pulmonary hypertension and increased mortality. Approximately one-third of people with MCTD have a benign course and go into remission, while the other one-third have a more aggressive course with a poor response to treatment. Approximately one-third of MCTD patients improved with immunosuppressive medication but continued to require immunosuppressive therapy after several years. The prevalence of pulmonary hypertension was related with the worst prognosis and a high mortality rate, making it the most significant complication in MCTD.
  • #81 Mixed connective tissue disease – Wikipedia
    https://en.wikipedia.org/wiki/Mixed_connective_tissue_disease
    Malaise and low-grade fever may develop with MCTD. The condition can cause elevated body temperatures without a clear cause. Sicca symptoms are frequent in MCTD, affecting 25-50% of individuals. […] The long-term course of MCTD may vary. Long-term follow-up studies have shown that MCTD can progress to a moderate disease with a favorable prognosis, or patients can acquire a significant condition with vascular alterations driven by pulmonary hypertension and increased mortality. Approximately one-third of people with MCTD have a benign course and go into remission, while the other one-third have a more aggressive course with a poor response to treatment. Approximately one-third of MCTD patients improved with immunosuppressive medication but continued to require immunosuppressive therapy after several years. The prevalence of pulmonary hypertension was related with the worst prognosis and a high mortality rate, making it the most significant complication in MCTD.
  • #82 Mixed connective tissue disease – Wikipedia
    https://en.wikipedia.org/wiki/Mixed_connective_tissue_disease
    Malaise and low-grade fever may develop with MCTD. The condition can cause elevated body temperatures without a clear cause. Sicca symptoms are frequent in MCTD, affecting 25-50% of individuals. […] The long-term course of MCTD may vary. Long-term follow-up studies have shown that MCTD can progress to a moderate disease with a favorable prognosis, or patients can acquire a significant condition with vascular alterations driven by pulmonary hypertension and increased mortality. Approximately one-third of people with MCTD have a benign course and go into remission, while the other one-third have a more aggressive course with a poor response to treatment. Approximately one-third of MCTD patients improved with immunosuppressive medication but continued to require immunosuppressive therapy after several years. The prevalence of pulmonary hypertension was related with the worst prognosis and a high mortality rate, making it the most significant complication in MCTD.
  • #83 Mixed Connective Tissue Disease (MCTD): Symptoms & Treatment
    https://my.clevelandclinic.org/health/diseases/15039-mixed-connective-tissue-disease
    MCTD symptoms may range from Raynauds phenomenon to muscle pain and weakness. Symptoms of different connective tissue disorders typically occur over time, not all at once. MCTD symptoms may include: Fatigue and/or malaise (generally feeling unwell), Low-grade fever, Muscle pain and weakness with no apparent cause, Joint pain and inflammation, Raynauds phenomenon (reduced blood flow to your fingers, toes, ears and nose, causing sensitivity, numbness and loss of color in these areas), Swollen, puffy fingers, sometimes temporary but at other times, progressing into sclerodactyly (thin fingers with hardened skin and limited movement), Red or reddish-brown rashes or patches on your knuckles. […] During an MCTD flare-up, you may feel severe joint and muscle pain. Your joints may inflame and swell, causing intense pain and stiffness. This is similar to what rheumatoid arthritis feels like. Your fingers, hands and sometimes toes may suddenly feel numb and tingly. They may become pale and then purple or blue in response to the cold or stress. These are symptoms of Raynauds phenomenon.
  • #84 Mixed connective tissue disease – Symptoms & causes – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/mixed-connective-tissue-disease/symptoms-causes/syc-20375147
    Mixed connective tissue disease (MCTD) has signs and symptoms of a combination of disorders primarily lupus, scleroderma, and polymyositis. Many people with this uncommon disease also have Sjogren’s syndrome. For this reason, mixed connective tissue disease (MCTD) is sometimes called an overlap disease. […] In mixed connective tissue disease, the symptoms of the separate diseases usually don’t appear all at once. Instead, they tend to occur over a number of years, which can complicate diagnosis. […] Early signs and symptoms often involve the hands. Fingers might get puffy, and the fingertips become white and numb, often in response to cold exposure. In later stages, some organs such as the lungs, heart and kidneys can be affected. […] Early indications of mixed connective tissue disease can include: General feeling of being unwell. This can include increased fatigue and a mild fever. Cold and numb fingers or toes (Raynaud’s phenomenon). In response to cold or stress, your fingers or toes might turn white and then purplish blue. After warming, the fingers or toes turn red. Swollen fingers or hands. Some people have swelling of the fingers. Muscle and joint pain. Joints can become inflamed, swollen and deformed, similar to what occurs with rheumatoid arthritis. Rash. Red or reddish brown patches can appear over the knuckles. […] See your doctor if you have signs and symptoms that interfere with your daily routine particularly if you’ve been diagnosed with lupus or another connective tissue disease.
  • #85 Mixed connective tissue disease – UpToDate
    https://www.uptodate.com/contents/mixed-connective-tissue-disease
    Mixed connective tissue disease (MCTD) is a systemic rheumatic disease characterized by the presence of high-titer anti-U1 ribonucleoprotein (RNP) antibodies in combination with clinical features commonly seen in systemic lupus erythematosus (SLE), systemic sclerosis (SSc), rheumatoid arthritis (RA), and polymyositis (PM). […] It often takes several years before enough overlapping features have appeared to be confident that MCTD is the most appropriate diagnosis. The distinctive overlap features of SLE, SSc, inflammatory arthritis, and PM commonly appear sequentially over time. Thus, in its early stages, MCTD may present with features of undifferentiated connective tissue disease (UCTD). […] This topic will review the clinical manifestations, diagnosis, treatment and prognosis of MCTD. […] MCTD occurs worldwide and affects all races, with a peak incidence in adolescence and the 20s. […] MCTD is much more common in females than males, although estimates of the difference range widely (from 3:1 to 16:1).
  • #86
    https://arthritis.ca/about-arthritis/arthritis-types-(a-z)/types/mixed-connective-tissue-disease-(mctd)
    Most people with MCTD experience subtle signs of the disease many years before having it diagnosed. These symptoms can include swollen fingers, joint pain with swollen joints (especially of the hands), acid reflux, difficulty swallowing, muscle weakness (of the upper arms and legs), shortness of breath, dry cough, rash, general malaise and fatigue. Raynaud’s phenomenon, in which the fingers become pale and numb in response to cold or emotional stress, is very common in this disease. Symptoms of MCTD vary widely and each person’s illness can be quite different. […] Almost everyone with MCTD will have aching joints. The disease also inflames the muscle fibres causing weakness and sometimes soreness, especially in the muscles around the shoulders and hips. […] Frequently, MCTD causes swollen hands and fingers where the fingers may look very puffy and joints may be swollen. A pink butterfly-shaped rash on the cheeks and the bridge of the nose, red patches on the knuckles, a violet discolouration of the eyelids and red dot-like blood vessels on the face and hands may also occur. There may be small hemorrhages around the nail beds.
  • #87 Mixed connective tissue disease – Symptoms & causes – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/mixed-connective-tissue-disease/symptoms-causes/syc-20375147
    Mixed connective tissue disease (MCTD) has signs and symptoms of a combination of disorders primarily lupus, scleroderma, and polymyositis. Many people with this uncommon disease also have Sjogren’s syndrome. For this reason, mixed connective tissue disease (MCTD) is sometimes called an overlap disease. […] In mixed connective tissue disease, the symptoms of the separate diseases usually don’t appear all at once. Instead, they tend to occur over a number of years, which can complicate diagnosis. […] Early signs and symptoms often involve the hands. Fingers might get puffy, and the fingertips become white and numb, often in response to cold exposure. In later stages, some organs such as the lungs, heart and kidneys can be affected. […] Early indications of mixed connective tissue disease can include: General feeling of being unwell. This can include increased fatigue and a mild fever. Cold and numb fingers or toes (Raynaud’s phenomenon). In response to cold or stress, your fingers or toes might turn white and then purplish blue. After warming, the fingers or toes turn red. Swollen fingers or hands. Some people have swelling of the fingers. Muscle and joint pain. Joints can become inflamed, swollen and deformed, similar to what occurs with rheumatoid arthritis. Rash. Red or reddish brown patches can appear over the knuckles. […] See your doctor if you have signs and symptoms that interfere with your daily routine particularly if you’ve been diagnosed with lupus or another connective tissue disease.
  • #88 Mixed connective tissue disease – Wikipedia
    https://en.wikipedia.org/wiki/Mixed_connective_tissue_disease
    Malaise and low-grade fever may develop with MCTD. The condition can cause elevated body temperatures without a clear cause. Sicca symptoms are frequent in MCTD, affecting 25-50% of individuals. […] The long-term course of MCTD may vary. Long-term follow-up studies have shown that MCTD can progress to a moderate disease with a favorable prognosis, or patients can acquire a significant condition with vascular alterations driven by pulmonary hypertension and increased mortality. Approximately one-third of people with MCTD have a benign course and go into remission, while the other one-third have a more aggressive course with a poor response to treatment. Approximately one-third of MCTD patients improved with immunosuppressive medication but continued to require immunosuppressive therapy after several years. The prevalence of pulmonary hypertension was related with the worst prognosis and a high mortality rate, making it the most significant complication in MCTD.
  • #89
    https://arthritis.ca/about-arthritis/arthritis-types-(a-z)/types/mixed-connective-tissue-disease-(mctd)
    In general, the more advanced the disease and the greater the organ damage, the less effective the treatment will be. Scleroderma-like damage to the skin and esophagus is least likely to respond to treatment. Symptom-free periods can sometimes last for many years with minimal or no ongoing treatment. However, MCTD will progress in spite of treatment in about 13 per cent of cases. In large part, the prognosis for MCTD is usually quite good.
  • #90 Mixed connective tissue disease – Wikipedia
    https://en.wikipedia.org/wiki/Mixed_connective_tissue_disease
    Malaise and low-grade fever may develop with MCTD. The condition can cause elevated body temperatures without a clear cause. Sicca symptoms are frequent in MCTD, affecting 25-50% of individuals. […] The long-term course of MCTD may vary. Long-term follow-up studies have shown that MCTD can progress to a moderate disease with a favorable prognosis, or patients can acquire a significant condition with vascular alterations driven by pulmonary hypertension and increased mortality. Approximately one-third of people with MCTD have a benign course and go into remission, while the other one-third have a more aggressive course with a poor response to treatment. Approximately one-third of MCTD patients improved with immunosuppressive medication but continued to require immunosuppressive therapy after several years. The prevalence of pulmonary hypertension was related with the worst prognosis and a high mortality rate, making it the most significant complication in MCTD.
  • #91 Mixed connective tissue disease
    https://dermnetnz.org/topics/mixed-connective-tissue-disease
    The course of mixed connective tissue disease may be similar to systemic lupus erythematosus, or systemic sclerosis. However the clinical features tend to evolve in sequence over a number of years, making diagnosis difficult sometimes. […] Early symptoms often involve the hands, with Raynaud phenomenon and sausage-shaped swelling of the digits. […] Malaise, myositis, and arthritis may also develop. […] Mixed connective tissue disease can be particularly severe in children, due to: Cardiac disease, Renal impairment, Thrombocytopenia. […] Late stage complications of mixed connective tissue disease include nephritis, pericarditis and myocarditis, and interstitial lung disease. […] Around one-third of patients with mixed connective tissue have mild disease, requiring only anti-inflammatories, and may go into remission where no U1-RNP antibodies are detected. […] Another one-third of patients have a progressive course developing progressive systemic sclerosis, which has a poor outcome. […] Pulmonary hypertension is the main cause of death.
  • #92 Mixed connective tissue disease – Wikipedia
    https://en.wikipedia.org/wiki/Mixed_connective_tissue_disease
    Malaise and low-grade fever may develop with MCTD. The condition can cause elevated body temperatures without a clear cause. Sicca symptoms are frequent in MCTD, affecting 25-50% of individuals. […] The long-term course of MCTD may vary. Long-term follow-up studies have shown that MCTD can progress to a moderate disease with a favorable prognosis, or patients can acquire a significant condition with vascular alterations driven by pulmonary hypertension and increased mortality. Approximately one-third of people with MCTD have a benign course and go into remission, while the other one-third have a more aggressive course with a poor response to treatment. Approximately one-third of MCTD patients improved with immunosuppressive medication but continued to require immunosuppressive therapy after several years. The prevalence of pulmonary hypertension was related with the worst prognosis and a high mortality rate, making it the most significant complication in MCTD.
  • #93
    https://arthritis.ca/about-arthritis/arthritis-types-(a-z)/types/mixed-connective-tissue-disease-(mctd)
    In general, the more advanced the disease and the greater the organ damage, the less effective the treatment will be. Scleroderma-like damage to the skin and esophagus is least likely to respond to treatment. Symptom-free periods can sometimes last for many years with minimal or no ongoing treatment. However, MCTD will progress in spite of treatment in about 13 per cent of cases. In large part, the prognosis for MCTD is usually quite good.
  • #94 Mixed connective tissue disease
    https://dermnetnz.org/topics/mixed-connective-tissue-disease
    The course of mixed connective tissue disease may be similar to systemic lupus erythematosus, or systemic sclerosis. However the clinical features tend to evolve in sequence over a number of years, making diagnosis difficult sometimes. […] Early symptoms often involve the hands, with Raynaud phenomenon and sausage-shaped swelling of the digits. […] Malaise, myositis, and arthritis may also develop. […] Mixed connective tissue disease can be particularly severe in children, due to: Cardiac disease, Renal impairment, Thrombocytopenia. […] Late stage complications of mixed connective tissue disease include nephritis, pericarditis and myocarditis, and interstitial lung disease. […] Around one-third of patients with mixed connective tissue have mild disease, requiring only anti-inflammatories, and may go into remission where no U1-RNP antibodies are detected. […] Another one-third of patients have a progressive course developing progressive systemic sclerosis, which has a poor outcome. […] Pulmonary hypertension is the main cause of death.
  • #95
    https://arthritis.ca/about-arthritis/arthritis-types-(a-z)/types/mixed-connective-tissue-disease-(mctd)
    In general, the more advanced the disease and the greater the organ damage, the less effective the treatment will be. Scleroderma-like damage to the skin and esophagus is least likely to respond to treatment. Symptom-free periods can sometimes last for many years with minimal or no ongoing treatment. However, MCTD will progress in spite of treatment in about 13 per cent of cases. In large part, the prognosis for MCTD is usually quite good.
  • #96 Mixed Connective Tissue Disease Flares: Symptoms and Treatment
    https://www.verywellhealth.com/mixed-connective-tissue-disease-flares-5112012
    MCTD may be marked by periods of no symptoms followed by exacerbations. […] Stress can be a major trigger of a flare. Most patients report that stress is one of the most significant factors in their illness. […] Cold exposure can cause an exacerbation of current or past symptoms, especially those of Raynauds phenomenon. […] If arthritis signs are present, disease-modifying antirheumatic drugs (DMARDs) may be recommended. […] Most people can be well treated with systemic steroids, disease-modifying antirheumatics like hydroxychloroquine or methotrexate, or immunosuppressive drugs like cyclosporine. […] If you are in a flare that is not calmed by self-care measures like rest, anti-inflammatory medicines, or avoiding known triggers like stress or cold, you should call your healthcare provider. […] You should see your practitioner if you experience symptoms that are worse than before or if your symptoms become debilitating.
  • #97 Mixed Connective Tissue Disease (MCTD): Symptoms & Treatment
    https://my.clevelandclinic.org/health/diseases/15039-mixed-connective-tissue-disease
    MCTD symptoms may range from Raynauds phenomenon to muscle pain and weakness. Symptoms of different connective tissue disorders typically occur over time, not all at once. MCTD symptoms may include: Fatigue and/or malaise (generally feeling unwell), Low-grade fever, Muscle pain and weakness with no apparent cause, Joint pain and inflammation, Raynauds phenomenon (reduced blood flow to your fingers, toes, ears and nose, causing sensitivity, numbness and loss of color in these areas), Swollen, puffy fingers, sometimes temporary but at other times, progressing into sclerodactyly (thin fingers with hardened skin and limited movement), Red or reddish-brown rashes or patches on your knuckles. […] During an MCTD flare-up, you may feel severe joint and muscle pain. Your joints may inflame and swell, causing intense pain and stiffness. This is similar to what rheumatoid arthritis feels like. Your fingers, hands and sometimes toes may suddenly feel numb and tingly. They may become pale and then purple or blue in response to the cold or stress. These are symptoms of Raynauds phenomenon.
  • #98 Mixed Connective Tissue Disease (MCTD): Symptoms & Treatment
    https://my.clevelandclinic.org/health/diseases/15039-mixed-connective-tissue-disease
    MCTD symptoms may range from Raynauds phenomenon to muscle pain and weakness. Symptoms of different connective tissue disorders typically occur over time, not all at once. MCTD symptoms may include: Fatigue and/or malaise (generally feeling unwell), Low-grade fever, Muscle pain and weakness with no apparent cause, Joint pain and inflammation, Raynauds phenomenon (reduced blood flow to your fingers, toes, ears and nose, causing sensitivity, numbness and loss of color in these areas), Swollen, puffy fingers, sometimes temporary but at other times, progressing into sclerodactyly (thin fingers with hardened skin and limited movement), Red or reddish-brown rashes or patches on your knuckles. […] During an MCTD flare-up, you may feel severe joint and muscle pain. Your joints may inflame and swell, causing intense pain and stiffness. This is similar to what rheumatoid arthritis feels like. Your fingers, hands and sometimes toes may suddenly feel numb and tingly. They may become pale and then purple or blue in response to the cold or stress. These are symptoms of Raynauds phenomenon.
  • #99 What is Mixed Connective Tissue Disease (MCTD)? – Dr. Naveen Bhadauria | Private Rheumatologist Consultant In London
    https://privatelondonrheumatologist.com/what-is-mixed-connective-tissue-disease-mctd/
    Living with MCTD can be unpredictable because you may go for a long time with well-controlled, manageable, and sometimes hardly noticeable symptoms. Then you may experience flares where symptoms worsen, or you develop new symptoms never experienced before. Flares can also be mild and short, lasting just a few days before dissipating, or they can be prolonged and uncomfortable. […] An MCTD flare is marked by an increase in symptoms that can vary in severity. Flares can be characterised by periods of zero symptoms followed by unexplained flares. […] It is believed that stress can be a significant trigger for an MCTD flare. […] Cold exposure is another significant cause that can exacerbate current or past symptoms. […] Most people with MCTD respond well to treatments with systemic steroids, disease-modifying antirheumatics (DMARDs) like hydroxychloroquine or methotrexate, or immunosuppressive drugs like cyclosporine. […] By treating yourself well, following a personalised plan, resting when you need to, exercising regularly and eating well, you will be helping to keep your body as healthy and robust as possible while managing MCTD.
  • #100 Disease evolution in mixed connective tissue disease: results from a long-term nationwide prospective cohort study | Arthritis Research & Therapy | Full Text
    https://arthritis-research.biomedcentral.com/articles/10.1186/s13075-017-1494-7
    Among 118 patients, 14 (12%) developed another well-defined rheumatic condition other than MCTD after mean disease duration of 17 (SD 9) years. […] Disease activity defined by SLEDAI-2 K, decreased gradually across the observation period and 90% of patients had EUSTAR activity index 2.5. There were 13% patients in remission throughout the whole mean observation period of 7 (SD 2) years. The strongest predictor of remission was percentage of predicted higher forced vital capacity. […] Our results strengthen the view of MCTD as a relatively stable disease entity. Long-term remission in MCTD is not frequent; however, the low SLEDAI-2 K and EUSTAR scores during the observation period suggests that the disease runs a milder course than systemic lupus erythematosus and systemic sclerosis. […] Nearly half of the patients with MCTD were in remission at the time of re-examination at T2, but only 13% had been in sustained remission throughout the whole observation period. […] The SLEDAI-2 K scores fell across the observation period, equally to what has been reported in SLE cohorts. […] The strongest predictor of remission at all time points was higher FVC % pred at T1, possibly reflecting a connection between lung disease and MCTD disease activity.
  • #101 Mixed Connective Tissue Disease: A Large Case Serieslogo-32logo-40logo-60NEJM Journal WatchnejmJW_1L_RGB-b
    https://www.jwatch.org/na57354/2024/04/09/mixed-connective-tissue-disease-large-case-series
    During 8 years of follow-up, one quarter of patients eventually met standard criteria for systemic lupus or systemic sclerosis. […] Mixed connective tissue disease (MCTD) is characterized by antibodies against ribonucleoprotein U1 (anti-U1RNP) plus clinical features of one or more differentiated connective tissue diseases. […] Common symptoms were Raynaud phenomenon (91%), arthralgias (83%), puffy fingers (46%), and myalgias (31%). […] During median follow-up of 8 years, 26% of patients progressed to meeting criteria for a differentiated connective tissue disease — mostly systemic lupus or systemic sclerosis. […] During follow-up, interstitial lung disease and pulmonary hypertension were identified in 28% and 8% of patients, respectively.
  • #102 Disease evolution in mixed connective tissue disease: results from a long-term nationwide prospective cohort study | Arthritis Research & Therapy | Full Text
    https://arthritis-research.biomedcentral.com/articles/10.1186/s13075-017-1494-7
    Among 118 patients, 14 (12%) developed another well-defined rheumatic condition other than MCTD after mean disease duration of 17 (SD 9) years. […] Disease activity defined by SLEDAI-2 K, decreased gradually across the observation period and 90% of patients had EUSTAR activity index 2.5. There were 13% patients in remission throughout the whole mean observation period of 7 (SD 2) years. The strongest predictor of remission was percentage of predicted higher forced vital capacity. […] Our results strengthen the view of MCTD as a relatively stable disease entity. Long-term remission in MCTD is not frequent; however, the low SLEDAI-2 K and EUSTAR scores during the observation period suggests that the disease runs a milder course than systemic lupus erythematosus and systemic sclerosis. […] Nearly half of the patients with MCTD were in remission at the time of re-examination at T2, but only 13% had been in sustained remission throughout the whole observation period. […] The SLEDAI-2 K scores fell across the observation period, equally to what has been reported in SLE cohorts. […] The strongest predictor of remission at all time points was higher FVC % pred at T1, possibly reflecting a connection between lung disease and MCTD disease activity.
  • #103 Mixed Connective Tissue Disease: A Large Case Serieslogo-32logo-40logo-60NEJM Journal WatchnejmJW_1L_RGB-b
    https://www.jwatch.org/na57354/2024/04/09/mixed-connective-tissue-disease-large-case-series
    During 8 years of follow-up, one quarter of patients eventually met standard criteria for systemic lupus or systemic sclerosis. […] Mixed connective tissue disease (MCTD) is characterized by antibodies against ribonucleoprotein U1 (anti-U1RNP) plus clinical features of one or more differentiated connective tissue diseases. […] Common symptoms were Raynaud phenomenon (91%), arthralgias (83%), puffy fingers (46%), and myalgias (31%). […] During median follow-up of 8 years, 26% of patients progressed to meeting criteria for a differentiated connective tissue disease — mostly systemic lupus or systemic sclerosis. […] During follow-up, interstitial lung disease and pulmonary hypertension were identified in 28% and 8% of patients, respectively.
  • #104 MCTD vs. UCTD: What Are the Differences?
    https://www.medicinenet.com/mctd_vs_uctd_what_is_the_difference/views.htm
    Patients with this pattern of illness (that is, with MCTD) have features of each of these three diseases. […] The symptoms of many of these patients eventually evolve to become dominated by features of one of the three component illnesses, most commonly the scleroderma features.
  • #105 Disease evolution in mixed connective tissue disease: results from a long-term nationwide prospective cohort study | Arthritis Research & Therapy | Full Text
    https://arthritis-research.biomedcentral.com/articles/10.1186/s13075-017-1494-7
    Among 118 patients, 14 (12%) developed another well-defined rheumatic condition other than MCTD after mean disease duration of 17 (SD 9) years. […] Disease activity defined by SLEDAI-2 K, decreased gradually across the observation period and 90% of patients had EUSTAR activity index 2.5. There were 13% patients in remission throughout the whole mean observation period of 7 (SD 2) years. The strongest predictor of remission was percentage of predicted higher forced vital capacity. […] Our results strengthen the view of MCTD as a relatively stable disease entity. Long-term remission in MCTD is not frequent; however, the low SLEDAI-2 K and EUSTAR scores during the observation period suggests that the disease runs a milder course than systemic lupus erythematosus and systemic sclerosis. […] Nearly half of the patients with MCTD were in remission at the time of re-examination at T2, but only 13% had been in sustained remission throughout the whole observation period. […] The SLEDAI-2 K scores fell across the observation period, equally to what has been reported in SLE cohorts. […] The strongest predictor of remission at all time points was higher FVC % pred at T1, possibly reflecting a connection between lung disease and MCTD disease activity.
  • #106 Disease evolution in mixed connective tissue disease: results from a long-term nationwide prospective cohort study | Arthritis Research & Therapy | Full Text
    https://arthritis-research.biomedcentral.com/articles/10.1186/s13075-017-1494-7
    Among 118 patients, 14 (12%) developed another well-defined rheumatic condition other than MCTD after mean disease duration of 17 (SD 9) years. […] Disease activity defined by SLEDAI-2 K, decreased gradually across the observation period and 90% of patients had EUSTAR activity index 2.5. There were 13% patients in remission throughout the whole mean observation period of 7 (SD 2) years. The strongest predictor of remission was percentage of predicted higher forced vital capacity. […] Our results strengthen the view of MCTD as a relatively stable disease entity. Long-term remission in MCTD is not frequent; however, the low SLEDAI-2 K and EUSTAR scores during the observation period suggests that the disease runs a milder course than systemic lupus erythematosus and systemic sclerosis. […] Nearly half of the patients with MCTD were in remission at the time of re-examination at T2, but only 13% had been in sustained remission throughout the whole observation period. […] The SLEDAI-2 K scores fell across the observation period, equally to what has been reported in SLE cohorts. […] The strongest predictor of remission at all time points was higher FVC % pred at T1, possibly reflecting a connection between lung disease and MCTD disease activity.
  • #107 Mixed Connective Tissue Disease (MCTD): Symptoms & Treatment
    https://my.clevelandclinic.org/health/diseases/15039-mixed-connective-tissue-disease
    MCTD can lead to severe complications, including: High blood pressure in your lungs (pulmonary hypertension), Interstitial lung disease, Heart disease, Kidney damage, Digestive tract damage, Anemia, Tissue death (necrosis), Hearing loss, Nerve damage. […] Treatment for MCTD depends on which organs are affected, your symptoms and how severe your condition is. Some people may need treatment only during flare-ups, while others may require constant care. Theres no cure for the disease, but medication can help you manage your symptoms. […] With proper treatment, 80% of people survive at least 10 years after diagnosis.
  • #108 Mixed Connective Tissue Disease | Cedars-Sinai
    https://www.cedars-sinai.org/health-library/diseases-and-conditions/m/mixed-connective-tissue-disease.html
    This condition is treated much like lupus. Corticosteroids, especially when given early in the course of the disease, can be helpful in managing the symptoms. […] Mixed connective tissue disease can cause life-threatening complications such as pulmonary hypertension, kidney failure, heart attack, infections, stroke or the development of holes in the colon (the lower part of the large intestine). In these cases, patients need stronger treatment. This usually includes larger doses of corticosteroids.
  • #109 Mixed Connective Tissue Disease – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK542198/
    Pulmonary involvement occurs in almost 73% of patients, with dyspnea being the most common symptom. Other symptoms include dry cough, pleuritic chest pain, wheezing, and hemoptysis. Interstitial lung disease can occur in 27.8% to 47% of patients, with a nonspecific interstitial pneumonitis pattern being the most common. […] MCTD generally has a good prognosis, although it depends on which organ is affected, the degree of inflammation, and the rate of disease progression. The mortality rate varies between 3.1% and 10% in the literature. […] Pulmonary hypertension is the most common cause of death. Interstitial lung disease, infections, cardiovascular complications, and malignancies are other causes.
  • #110 Mixed connective tissue disease
    https://dermnetnz.org/topics/mixed-connective-tissue-disease
    The course of mixed connective tissue disease may be similar to systemic lupus erythematosus, or systemic sclerosis. However the clinical features tend to evolve in sequence over a number of years, making diagnosis difficult sometimes. […] Early symptoms often involve the hands, with Raynaud phenomenon and sausage-shaped swelling of the digits. […] Malaise, myositis, and arthritis may also develop. […] Mixed connective tissue disease can be particularly severe in children, due to: Cardiac disease, Renal impairment, Thrombocytopenia. […] Late stage complications of mixed connective tissue disease include nephritis, pericarditis and myocarditis, and interstitial lung disease. […] Around one-third of patients with mixed connective tissue have mild disease, requiring only anti-inflammatories, and may go into remission where no U1-RNP antibodies are detected. […] Another one-third of patients have a progressive course developing progressive systemic sclerosis, which has a poor outcome. […] Pulmonary hypertension is the main cause of death.
  • #111 Mixed Connective Tissue Disease (MCTD): Symptoms & Treatment
    https://my.clevelandclinic.org/health/diseases/15039-mixed-connective-tissue-disease
    MCTD can lead to severe complications, including: High blood pressure in your lungs (pulmonary hypertension), Interstitial lung disease, Heart disease, Kidney damage, Digestive tract damage, Anemia, Tissue death (necrosis), Hearing loss, Nerve damage. […] Treatment for MCTD depends on which organs are affected, your symptoms and how severe your condition is. Some people may need treatment only during flare-ups, while others may require constant care. Theres no cure for the disease, but medication can help you manage your symptoms. […] With proper treatment, 80% of people survive at least 10 years after diagnosis.
  • #112 Mixed Connective Tissue Disease (MCTD): Symptoms & Treatment
    https://my.clevelandclinic.org/health/diseases/15039-mixed-connective-tissue-disease
    MCTD can lead to severe complications, including: High blood pressure in your lungs (pulmonary hypertension), Interstitial lung disease, Heart disease, Kidney damage, Digestive tract damage, Anemia, Tissue death (necrosis), Hearing loss, Nerve damage. […] Treatment for MCTD depends on which organs are affected, your symptoms and how severe your condition is. Some people may need treatment only during flare-ups, while others may require constant care. Theres no cure for the disease, but medication can help you manage your symptoms. […] With proper treatment, 80% of people survive at least 10 years after diagnosis.
  • #113 Mixed Connective Tissue Disease (MCTD) – Bone, Joint, and Muscle Disorders – Merck Manual Consumer Version
    https://www.merckmanuals.com/home/bone-joint-and-muscle-disorders/systemic-rheumatic-diseases/mixed-connective-tissue-disease-mctd
    The lungs are affected in up to 75% of people with mixed connective tissue disease. Fluid may collect around the lungs (pleural effusion). Interstitial lung disease, which affects the air sacs of the lungs, can be the most serious problem because it can cause shortness of breath. Pulmonary hypertension, a condition in which blood pressure in the arteries of the lungs (the pulmonary arteries) is abnormally high, is a major cause of death. […] Disorders that cause inflammation in the heart, such as pericarditis and myocarditis, can develop. Rarely, the heart is weakened, leading to heart failure. Symptoms of heart failure may include fluid retention, shortness of breath, and fatigue. […] The kidneys are affected in approximately 25% of people, and the damage is usually mild compared to the damage caused by lupus.
  • #114 Mixed Connective Tissue Disease (MCTD) – Musculoskeletal and Connective Tissue Disorders – MSD Manual Professional Edition
    https://www.msdmanuals.com/professional/musculoskeletal-and-connective-tissue-disorders/systemic-rheumatic-diseases/mixed-connective-tissue-disease-mctd
    The lungs are affected in up to 75% of patients with MCTD. Pleural effusions and interstitial lung disease are the most common lung manifestations; pulmonary hypertension is a major cause of death and is reported in up 13% of cases. […] Pericarditis is a common feature. Severe myocarditis leading to heart failure is uncommon but can occur. […] The overall 10-year survival rate is approximately 96%, but prognosis depends largely on which manifestations predominate. Patients with features of systemic sclerosis and polymyositis have a worse prognosis. Patients are at increased risk of atherosclerosis. […] Causes of death include pulmonary hypertension, renal failure, myocardial infarction, colonic perforation, disseminated infection, and cerebral hemorrhage.
  • #115 Mixed Connective Tissue Disease (MCTD): Symptoms & Treatment
    https://my.clevelandclinic.org/health/diseases/15039-mixed-connective-tissue-disease
    MCTD can lead to severe complications, including: High blood pressure in your lungs (pulmonary hypertension), Interstitial lung disease, Heart disease, Kidney damage, Digestive tract damage, Anemia, Tissue death (necrosis), Hearing loss, Nerve damage. […] Treatment for MCTD depends on which organs are affected, your symptoms and how severe your condition is. Some people may need treatment only during flare-ups, while others may require constant care. Theres no cure for the disease, but medication can help you manage your symptoms. […] With proper treatment, 80% of people survive at least 10 years after diagnosis.
  • #116 Mixed Connective Tissue Disease | Cedars-Sinai
    https://www.cedars-sinai.org/health-library/diseases-and-conditions/m/mixed-connective-tissue-disease.html
    This condition is treated much like lupus. Corticosteroids, especially when given early in the course of the disease, can be helpful in managing the symptoms. […] Mixed connective tissue disease can cause life-threatening complications such as pulmonary hypertension, kidney failure, heart attack, infections, stroke or the development of holes in the colon (the lower part of the large intestine). In these cases, patients need stronger treatment. This usually includes larger doses of corticosteroids.
  • #117 Mixed Connective Tissue Disease (MCTD): Symptoms & Treatment
    https://my.clevelandclinic.org/health/diseases/15039-mixed-connective-tissue-disease
    MCTD can lead to severe complications, including: High blood pressure in your lungs (pulmonary hypertension), Interstitial lung disease, Heart disease, Kidney damage, Digestive tract damage, Anemia, Tissue death (necrosis), Hearing loss, Nerve damage. […] Treatment for MCTD depends on which organs are affected, your symptoms and how severe your condition is. Some people may need treatment only during flare-ups, while others may require constant care. Theres no cure for the disease, but medication can help you manage your symptoms. […] With proper treatment, 80% of people survive at least 10 years after diagnosis.
  • #118 Mixed Connective Tissue Disease (MCTD): Symptoms & Treatment
    https://my.clevelandclinic.org/health/diseases/15039-mixed-connective-tissue-disease
    MCTD can lead to severe complications, including: High blood pressure in your lungs (pulmonary hypertension), Interstitial lung disease, Heart disease, Kidney damage, Digestive tract damage, Anemia, Tissue death (necrosis), Hearing loss, Nerve damage. […] Treatment for MCTD depends on which organs are affected, your symptoms and how severe your condition is. Some people may need treatment only during flare-ups, while others may require constant care. Theres no cure for the disease, but medication can help you manage your symptoms. […] With proper treatment, 80% of people survive at least 10 years after diagnosis.
  • #119 Mixed Connective Tissue Disease (MCTD): Symptoms & Treatment
    https://my.clevelandclinic.org/health/diseases/15039-mixed-connective-tissue-disease
    MCTD can lead to severe complications, including: High blood pressure in your lungs (pulmonary hypertension), Interstitial lung disease, Heart disease, Kidney damage, Digestive tract damage, Anemia, Tissue death (necrosis), Hearing loss, Nerve damage. […] Treatment for MCTD depends on which organs are affected, your symptoms and how severe your condition is. Some people may need treatment only during flare-ups, while others may require constant care. Theres no cure for the disease, but medication can help you manage your symptoms. […] With proper treatment, 80% of people survive at least 10 years after diagnosis.
  • #120 Mixed Connective Tissue Disease (MCTD): Symptoms & Treatment
    https://my.clevelandclinic.org/health/diseases/15039-mixed-connective-tissue-disease
    MCTD can lead to severe complications, including: High blood pressure in your lungs (pulmonary hypertension), Interstitial lung disease, Heart disease, Kidney damage, Digestive tract damage, Anemia, Tissue death (necrosis), Hearing loss, Nerve damage. […] Treatment for MCTD depends on which organs are affected, your symptoms and how severe your condition is. Some people may need treatment only during flare-ups, while others may require constant care. Theres no cure for the disease, but medication can help you manage your symptoms. […] With proper treatment, 80% of people survive at least 10 years after diagnosis.
  • #121 Mixed Connective Tissue Disease (MCTD): Symptoms & Treatment
    https://my.clevelandclinic.org/health/diseases/15039-mixed-connective-tissue-disease
    MCTD can lead to severe complications, including: High blood pressure in your lungs (pulmonary hypertension), Interstitial lung disease, Heart disease, Kidney damage, Digestive tract damage, Anemia, Tissue death (necrosis), Hearing loss, Nerve damage. […] Treatment for MCTD depends on which organs are affected, your symptoms and how severe your condition is. Some people may need treatment only during flare-ups, while others may require constant care. Theres no cure for the disease, but medication can help you manage your symptoms. […] With proper treatment, 80% of people survive at least 10 years after diagnosis.
  • #122 Mixed Connective Tissue Disease | Cedars-Sinai
    https://www.cedars-sinai.org/health-library/diseases-and-conditions/m/mixed-connective-tissue-disease.html
    This condition is treated much like lupus. Corticosteroids, especially when given early in the course of the disease, can be helpful in managing the symptoms. […] Mixed connective tissue disease can cause life-threatening complications such as pulmonary hypertension, kidney failure, heart attack, infections, stroke or the development of holes in the colon (the lower part of the large intestine). In these cases, patients need stronger treatment. This usually includes larger doses of corticosteroids.
  • #123 Mixed Connective Tissue Disease | Cedars-Sinai
    https://www.cedars-sinai.org/health-library/diseases-and-conditions/m/mixed-connective-tissue-disease.html
    This condition is treated much like lupus. Corticosteroids, especially when given early in the course of the disease, can be helpful in managing the symptoms. […] Mixed connective tissue disease can cause life-threatening complications such as pulmonary hypertension, kidney failure, heart attack, infections, stroke or the development of holes in the colon (the lower part of the large intestine). In these cases, patients need stronger treatment. This usually includes larger doses of corticosteroids.
  • #124 Mixed Connective Tissue Disease | Cedars-Sinai
    https://www.cedars-sinai.org/health-library/diseases-and-conditions/m/mixed-connective-tissue-disease.html
    This condition is treated much like lupus. Corticosteroids, especially when given early in the course of the disease, can be helpful in managing the symptoms. […] Mixed connective tissue disease can cause life-threatening complications such as pulmonary hypertension, kidney failure, heart attack, infections, stroke or the development of holes in the colon (the lower part of the large intestine). In these cases, patients need stronger treatment. This usually includes larger doses of corticosteroids.
  • #125 Mixed Connective-Tissue Disease (MCTD): Practice Essentials, Pathophysiology, Etiology
    https://emedicine.medscape.com/article/335815-overview
    Most patients with MCTD have a favorable outcome. Cases of MCTD with typical clinical or serologic features occasionally evolve into scleroderma, SLE, or another rheumatic disease. Pulmonary hypertension is the most common disease-associated cause of death. Careful monitoring and aggressive treatment may improve the outcome of pulmonary hypertension. […] The onset of MCTD is typically at 15-25 years of age, but can occur at any age.
  • #126 Mixed Connective Tissue Disease (MCTD) – Bone, Joint, and Muscle Disorders – Merck Manual Consumer Version
    https://www.merckmanuals.com/home/bone-joint-and-muscle-disorders/systemic-rheumatic-diseases/mixed-connective-tissue-disease-mctd
    Other symptoms may include fever, swollen lymph nodes, and abdominal pain. […] Sjgren syndrome may develop. Over time, many people develop symptoms that are more typical of lupus or systemic sclerosis. […] Overall, the 10-year survival rate is approximately 96%, but the prognosis depends largely on a person’s symptoms. For example, the prognosis is worse for people who have mainly symptoms of systemic sclerosis and polymyositis.
  • #127 Mixed Connective Tissue Disease (MCTD): Symptoms & Treatment
    https://my.clevelandclinic.org/health/diseases/15039-mixed-connective-tissue-disease
    MCTD can lead to severe complications, including: High blood pressure in your lungs (pulmonary hypertension), Interstitial lung disease, Heart disease, Kidney damage, Digestive tract damage, Anemia, Tissue death (necrosis), Hearing loss, Nerve damage. […] Treatment for MCTD depends on which organs are affected, your symptoms and how severe your condition is. Some people may need treatment only during flare-ups, while others may require constant care. Theres no cure for the disease, but medication can help you manage your symptoms. […] With proper treatment, 80% of people survive at least 10 years after diagnosis.
  • #128 Mixed Connective Tissue Disease (MCTD) – Bone, Joint, and Muscle Disorders – Merck Manual Consumer Version
    https://www.merckmanuals.com/home/bone-joint-and-muscle-disorders/systemic-rheumatic-diseases/mixed-connective-tissue-disease-mctd
    Other symptoms may include fever, swollen lymph nodes, and abdominal pain. […] Sjgren syndrome may develop. Over time, many people develop symptoms that are more typical of lupus or systemic sclerosis. […] Overall, the 10-year survival rate is approximately 96%, but the prognosis depends largely on a person’s symptoms. For example, the prognosis is worse for people who have mainly symptoms of systemic sclerosis and polymyositis.
  • #129 Mixed Connective Tissue Disease (MCTD) – Musculoskeletal and Connective Tissue Disorders – MSD Manual Professional Edition
    https://www.msdmanuals.com/professional/musculoskeletal-and-connective-tissue-disorders/systemic-rheumatic-diseases/mixed-connective-tissue-disease-mctd
    The lungs are affected in up to 75% of patients with MCTD. Pleural effusions and interstitial lung disease are the most common lung manifestations; pulmonary hypertension is a major cause of death and is reported in up 13% of cases. […] Pericarditis is a common feature. Severe myocarditis leading to heart failure is uncommon but can occur. […] The overall 10-year survival rate is approximately 96%, but prognosis depends largely on which manifestations predominate. Patients with features of systemic sclerosis and polymyositis have a worse prognosis. Patients are at increased risk of atherosclerosis. […] Causes of death include pulmonary hypertension, renal failure, myocardial infarction, colonic perforation, disseminated infection, and cerebral hemorrhage.
  • #130 Mixed Connective Tissue Disease (MCTD) – Bone, Joint, and Muscle Disorders – Merck Manual Consumer Version
    https://www.merckmanuals.com/home/bone-joint-and-muscle-disorders/systemic-rheumatic-diseases/mixed-connective-tissue-disease-mctd
    Other symptoms may include fever, swollen lymph nodes, and abdominal pain. […] Sjgren syndrome may develop. Over time, many people develop symptoms that are more typical of lupus or systemic sclerosis. […] Overall, the 10-year survival rate is approximately 96%, but the prognosis depends largely on a person’s symptoms. For example, the prognosis is worse for people who have mainly symptoms of systemic sclerosis and polymyositis.
  • #131 Mixed Connective Tissue Disease (MCTD) – Bone, Joint, and Muscle Disorders – Merck Manual Consumer Version
    https://www.merckmanuals.com/home/bone-joint-and-muscle-disorders/systemic-rheumatic-diseases/mixed-connective-tissue-disease-mctd
    Other symptoms may include fever, swollen lymph nodes, and abdominal pain. […] Sjgren syndrome may develop. Over time, many people develop symptoms that are more typical of lupus or systemic sclerosis. […] Overall, the 10-year survival rate is approximately 96%, but the prognosis depends largely on a person’s symptoms. For example, the prognosis is worse for people who have mainly symptoms of systemic sclerosis and polymyositis.
  • #132 Mixed Connective Tissue Disease – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK542198/
    Pulmonary involvement occurs in almost 73% of patients, with dyspnea being the most common symptom. Other symptoms include dry cough, pleuritic chest pain, wheezing, and hemoptysis. Interstitial lung disease can occur in 27.8% to 47% of patients, with a nonspecific interstitial pneumonitis pattern being the most common. […] MCTD generally has a good prognosis, although it depends on which organ is affected, the degree of inflammation, and the rate of disease progression. The mortality rate varies between 3.1% and 10% in the literature. […] Pulmonary hypertension is the most common cause of death. Interstitial lung disease, infections, cardiovascular complications, and malignancies are other causes.
  • #133 Mixed Connective Tissue Disease (MCTD) | Doctor
    https://patient.info/doctor/mixed-connective-tissue-disease
    The most common clinical manifestations are Raynaud’s phenomenon, arthralgias, swollen joints, oesophageal dysfunction, muscle weakness and fingers with sausage-like appearance. Patients may also present with any combination of the following signs and symptoms: […] Cardiac involvement is common among patients but often clinically inapparent. Pericarditis is the most common cardiac diagnosis. Other abnormalities include conduction abnormalities, pericardial effusion and mitral valve prolapse. Systolic and/or diastolic heart failure may occur. […] The prognosis is variable. One third of patients go into long-term remission, one third have intermittent chronic disabilities such as arthritis, chronic fatigue and dyspnoea on exertion and one third have severe systemic involvement with premature death. The mortality rate is lower in children than in adults. […] The most common cause of death is pulmonary hypertension. Careful management of the pulmonary complications improves prognosis.
  • #134 Mixed Connective Tissue Disease – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK542198/
    Pulmonary involvement occurs in almost 73% of patients, with dyspnea being the most common symptom. Other symptoms include dry cough, pleuritic chest pain, wheezing, and hemoptysis. Interstitial lung disease can occur in 27.8% to 47% of patients, with a nonspecific interstitial pneumonitis pattern being the most common. […] MCTD generally has a good prognosis, although it depends on which organ is affected, the degree of inflammation, and the rate of disease progression. The mortality rate varies between 3.1% and 10% in the literature. […] Pulmonary hypertension is the most common cause of death. Interstitial lung disease, infections, cardiovascular complications, and malignancies are other causes.
  • #135 Mixed Connective Tissue Disease | Riley Children’s Health
    https://www.rileychildrens.org/health-info/mixed-connective-tissue-disease
    Mixed connective tissue disease (MCTD) is an autoimmune condition in which the immune system works too well in some ways and not well enough in others. This condition has the signs and symptoms of several disorders, including lupus, scleroderma and polymyositis (chronic inflammation of the muscles), so it is actually an overlap of several conditions. […] MCTD can be associated with Raynaud disease and can also cause arthritis, fevers and malaise (unexplainable fatigue). Most children are older adolescents when they are diagnosed with the condition, though it can rarely occur earlier. […] Other symptoms of MCTD include: Photosensitivity (sensitivity to sunlight), Rashes, Sores in the mouth and nose, Swollen fingers or hands, Muscle and joint pain, Inflammation in the lungs and heart.
  • #136 Mixed Connective Tissue Disease | Symptoms, Diagnosis & Treatment
    https://www.cincinnatichildrens.org/health/m/mctd
    MCTD often begins with fever, decreased energy, and weakness. The symptoms can range from mild to life-threatening. Pediatric MCTD can go into periods of remission where symptoms are not present. The two most common findings in MCTD at the time of diagnosis are arthritis and Raynaud’s phenomenon. Arthritis is painful, swollen and tender joints, loss of motion, and heat or redness. Raynaud’s is a sudden, reversible sequence of skin color changes (pale, blue and/or red). This often affects fingers and toes, and may happen after being in the cold. Raynaud’s may also occur in other inflammatory connective tissue diseases such as scleroderma. Pulmonary hypertension is not common, but is a very dangerous complication of pediatric MCTD. It most often develops slowly and silently. Its symptoms, like shortness of breath and chest pain, must be reported to your doctor right away. The most common disease characteristics in pediatric MCTD and the percent of children who may have them are:
  • #137 Mixed Connective Tissue Disease | Symptoms, Diagnosis & Treatment
    https://www.cincinnatichildrens.org/health/m/mctd
    MCTD often begins with fever, decreased energy, and weakness. The symptoms can range from mild to life-threatening. Pediatric MCTD can go into periods of remission where symptoms are not present. The two most common findings in MCTD at the time of diagnosis are arthritis and Raynaud’s phenomenon. Arthritis is painful, swollen and tender joints, loss of motion, and heat or redness. Raynaud’s is a sudden, reversible sequence of skin color changes (pale, blue and/or red). This often affects fingers and toes, and may happen after being in the cold. Raynaud’s may also occur in other inflammatory connective tissue diseases such as scleroderma. Pulmonary hypertension is not common, but is a very dangerous complication of pediatric MCTD. It most often develops slowly and silently. Its symptoms, like shortness of breath and chest pain, must be reported to your doctor right away. The most common disease characteristics in pediatric MCTD and the percent of children who may have them are:
  • #138 Mixed connective tissue disease presenting with progressive scleroderma symptoms in a 10-year-old girl
    https://pmc.ncbi.nlm.nih.gov/articles/PMC3858664/
    During the developmental period the course of the disease is milder in comparison to adults. In the majority of patients, after a few years the activity of the disease is low. The most frequent causes of death are connected with development of pulmonary hypertension and interstitial lung disease. […] The girl described in our paper had no clinical symptoms of muscle damage and her muscle enzymes activity was normal. It is generally thought that muscle involvement in MCTD is subclinical and usually presents as elevated levels of muscle enzymes; severe muscle weakness is not observed in this disease. […] It is thought that in the developmental period MCTD has a milder course than in adult patients, and that the disease activity gradually decreases and after a few years it becomes low.
  • #139 Mixed connective tissue disease presenting with progressive scleroderma symptoms in a 10-year-old girl
    https://pmc.ncbi.nlm.nih.gov/articles/PMC3858664/
    During the developmental period the course of the disease is milder in comparison to adults. In the majority of patients, after a few years the activity of the disease is low. The most frequent causes of death are connected with development of pulmonary hypertension and interstitial lung disease. […] The girl described in our paper had no clinical symptoms of muscle damage and her muscle enzymes activity was normal. It is generally thought that muscle involvement in MCTD is subclinical and usually presents as elevated levels of muscle enzymes; severe muscle weakness is not observed in this disease. […] It is thought that in the developmental period MCTD has a milder course than in adult patients, and that the disease activity gradually decreases and after a few years it becomes low.
  • #140 Mixed Connective Tissue Disease | Symptoms, Diagnosis & Treatment
    https://www.cincinnatichildrens.org/health/m/mctd
    Pediatric MCTD can be treated. The long-term outcome depends on a childs disease characteristics and response to medicine. Therefore, the outcome varies and can’t be predicted. […] Some children achieve remission and may stop their medicines. Other children may have active disease for many years. Some may have more severe symptoms than others. Despite the challenges children with MCTD and their families face, most grow up to lead an active, productive life.
  • #141 Mixed Connective Tissue Disease | Symptoms, Diagnosis & Treatment
    https://www.cincinnatichildrens.org/health/m/mctd
    Pediatric MCTD can be treated. The long-term outcome depends on a childs disease characteristics and response to medicine. Therefore, the outcome varies and can’t be predicted. […] Some children achieve remission and may stop their medicines. Other children may have active disease for many years. Some may have more severe symptoms than others. Despite the challenges children with MCTD and their families face, most grow up to lead an active, productive life.
  • #142 Mixed Connective Tissue Disease – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK542198/
    Mixed connective tissue disease is a rare autoimmune disease characterized by the presence of the anti-U1-ribonucleoprotein, Raynaud phenomenon, and features of at least 2 connective tissue diseases, including systemic lupus erythematosus, systemic sclerosis, inflammatory myositis, and rheumatoid arthritis. Diagnosis can be challenging due to variable and diverse presenting symptoms and changes in symptoms over time. […] Initial symptoms of MCTD are typically nonspecific and include arthralgia, malaise, myalgia, and low-grade fever. MCTD can affect nearly any organ system, and symptoms reflect the overlapping nature of this condition with other rheumatological diseases, as there are no unique, singular clinical manifestations of MCTD. […] The most common skin change is Raynaud phenomenon, which is also the most common presenting feature of MCTD, occurring between 50.3% and 93.2% at presentation and 57.5% to 99% after follow-up. Puffy digits, characterized by diffuse soft tissue swelling of the fingers, are also characteristic, although not always present, affecting 53% to 72% of patients at presentation and 46% to 92% after follow-up.
  • #143 Mixed Connective Tissue Disease | Cedars-Sinai
    https://www.cedars-sinai.org/health-library/diseases-and-conditions/m/mixed-connective-tissue-disease.html
    Mixed connective tissue disease is a rheumatic disease that has features shared by lupus, scleroderma, polymyositis or dermatomyositis and rheumatoid arthritis. […] When symptoms of Mixed Connective Tissue Disease first appear, they may suggest that the person affected has any one of several rheumatic diseases. However, when a person has mixed connective tissue disorder, the symptoms aren’t as severe or as widespread as they would be if the person has lupus, scleroderma, rheumatoid arthritis or other rheumatic disorder. […] This condition has many symptoms, including: Pain in two or more joints. Almost all persons with mixed connective tissue disease have this symptom. Three out of four persons with the condition have arthritis and may have the swollen, deformed joints of rheumatoid arthritis. […] Raynaud’s phenomenon. This symptom may appear years before any other. […] Skin changes. These can be like those of lupus or red patches over the knuckles, violet discolorations of the eyelids, loss of hair over the body and abnormal opening up (dilation) of the capillaries of the hands and face that may form a tumor. […] Swollen hands. This is the most common symptom. With time, the fingers look more and more like sausages. […] Muscle weakness. There may sometimes also be tenderness. […] Difficulty swallowing and keeping food in the stomach. […] Loss of sensation in the nerves of the face and head. […] Lung disorders. Nearly 80% of the people with mixed connective tissue disease have some involvement of the lungs. Symptoms can include inflammation of the lining that covers the lungs and the inside of the chest, difficulty breathing or pulmonary hypertension. […] Kidney disease. Only about one out of every 10 patients has this symptom, which is often mild. In some cases, however, it can become life threatening.
  • #144 Mixed connective tissue disease – UpToDate
    https://www.uptodate.com/contents/mixed-connective-tissue-disease
    Mixed connective tissue disease (MCTD) is a systemic rheumatic disease characterized by the presence of high-titer anti-U1 ribonucleoprotein (RNP) antibodies in combination with clinical features commonly seen in systemic lupus erythematosus (SLE), systemic sclerosis (SSc), rheumatoid arthritis (RA), and polymyositis (PM). […] It often takes several years before enough overlapping features have appeared to be confident that MCTD is the most appropriate diagnosis. The distinctive overlap features of SLE, SSc, inflammatory arthritis, and PM commonly appear sequentially over time. Thus, in its early stages, MCTD may present with features of undifferentiated connective tissue disease (UCTD). […] This topic will review the clinical manifestations, diagnosis, treatment and prognosis of MCTD. […] MCTD occurs worldwide and affects all races, with a peak incidence in adolescence and the 20s. […] MCTD is much more common in females than males, although estimates of the difference range widely (from 3:1 to 16:1).
  • #145 Mixed Connective Tissue Disease
    https://www.hss.edu/condition-list_mixed-connective-tissue-disease.asp
    As with other connective tissue diseases, the symptoms of MCTD can range from very mild to life-threatening. Often, patients with MCTD have systemic symptoms such as fevers, weight loss, a decrease in energy, and feelings of weakness. The most common symptoms at diagnosis include Raynauds phenomenon (temporary changes in the colors of the fingers and toes caused by stress or exposure to cold) and arthritis (warmth, swelling, tenderness and limitation of motion of a joint). It is important to understand that all of these symptoms can indicators of other conditions. Some patients with MCTD will have additional symptoms that affect body organs such as the lungs, heart and skin. […] Diagnosis is based on symptoms, physical exam findings, lab tests and radiological imaging studies. Since patients will show signs and symptoms of multiple disorders, MCTD and overlap syndrome are both difficult to diagnose. Sometimes it may take months or even years to determine the correct diagnosis, as symptoms tend to evolve over time. A positive test for anti-RNP antibody is required to make diagnosis of MCTD. Patients who test negative for this antibody are diagnosed as having overlap syndrome. In addition to this testing, blood and urine, cardiac and pulmonary studies are frequently monitored.
  • #146 Mixed Connective Tissue Disease – MCTD | Choose the Right Test
    https://arupconsult.com/content/mixed-connective-tissue-disease
    […] […] The clinical characteristics of MCTD in a given patient can change over time so that MCTD is eventually classified as a different SARD. Termed clinical shift, this disease evolution has been reported in up to 50% of patients with MCTD during the decade after diagnosis. Long-term monitoring of patients with MCTD is recommended to assess disease course and possible progression to another connective tissue disease.
  • #147 Mixed connective tissue disease – Symptoms & causes – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/mixed-connective-tissue-disease/symptoms-causes/syc-20375147
    Mixed connective tissue disease (MCTD) has signs and symptoms of a combination of disorders primarily lupus, scleroderma, and polymyositis. Many people with this uncommon disease also have Sjogren’s syndrome. For this reason, mixed connective tissue disease (MCTD) is sometimes called an overlap disease. […] In mixed connective tissue disease, the symptoms of the separate diseases usually don’t appear all at once. Instead, they tend to occur over a number of years, which can complicate diagnosis. […] Early signs and symptoms often involve the hands. Fingers might get puffy, and the fingertips become white and numb, often in response to cold exposure. In later stages, some organs such as the lungs, heart and kidneys can be affected. […] Early indications of mixed connective tissue disease can include: General feeling of being unwell. This can include increased fatigue and a mild fever. Cold and numb fingers or toes (Raynaud’s phenomenon). In response to cold or stress, your fingers or toes might turn white and then purplish blue. After warming, the fingers or toes turn red. Swollen fingers or hands. Some people have swelling of the fingers. Muscle and joint pain. Joints can become inflamed, swollen and deformed, similar to what occurs with rheumatoid arthritis. Rash. Red or reddish brown patches can appear over the knuckles. […] See your doctor if you have signs and symptoms that interfere with your daily routine particularly if you’ve been diagnosed with lupus or another connective tissue disease.
  • #148 Mixed Connective Tissue Disease | Cedars-Sinai
    https://www.cedars-sinai.org/health-library/diseases-and-conditions/m/mixed-connective-tissue-disease.html
    Mixed connective tissue disease is a rheumatic disease that has features shared by lupus, scleroderma, polymyositis or dermatomyositis and rheumatoid arthritis. […] When symptoms of Mixed Connective Tissue Disease first appear, they may suggest that the person affected has any one of several rheumatic diseases. However, when a person has mixed connective tissue disorder, the symptoms aren’t as severe or as widespread as they would be if the person has lupus, scleroderma, rheumatoid arthritis or other rheumatic disorder. […] This condition has many symptoms, including: Pain in two or more joints. Almost all persons with mixed connective tissue disease have this symptom. Three out of four persons with the condition have arthritis and may have the swollen, deformed joints of rheumatoid arthritis. […] Raynaud’s phenomenon. This symptom may appear years before any other. […] Skin changes. These can be like those of lupus or red patches over the knuckles, violet discolorations of the eyelids, loss of hair over the body and abnormal opening up (dilation) of the capillaries of the hands and face that may form a tumor. […] Swollen hands. This is the most common symptom. With time, the fingers look more and more like sausages. […] Muscle weakness. There may sometimes also be tenderness. […] Difficulty swallowing and keeping food in the stomach. […] Loss of sensation in the nerves of the face and head. […] Lung disorders. Nearly 80% of the people with mixed connective tissue disease have some involvement of the lungs. Symptoms can include inflammation of the lining that covers the lungs and the inside of the chest, difficulty breathing or pulmonary hypertension. […] Kidney disease. Only about one out of every 10 patients has this symptom, which is often mild. In some cases, however, it can become life threatening.
  • #149 Mixed Connective Tissue Disease – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK542198/
    Pulmonary involvement occurs in almost 73% of patients, with dyspnea being the most common symptom. Other symptoms include dry cough, pleuritic chest pain, wheezing, and hemoptysis. Interstitial lung disease can occur in 27.8% to 47% of patients, with a nonspecific interstitial pneumonitis pattern being the most common. […] MCTD generally has a good prognosis, although it depends on which organ is affected, the degree of inflammation, and the rate of disease progression. The mortality rate varies between 3.1% and 10% in the literature. […] Pulmonary hypertension is the most common cause of death. Interstitial lung disease, infections, cardiovascular complications, and malignancies are other causes.
  • #150 Mixed connective tissue disease
    https://dermnetnz.org/topics/mixed-connective-tissue-disease
    The course of mixed connective tissue disease may be similar to systemic lupus erythematosus, or systemic sclerosis. However the clinical features tend to evolve in sequence over a number of years, making diagnosis difficult sometimes. […] Early symptoms often involve the hands, with Raynaud phenomenon and sausage-shaped swelling of the digits. […] Malaise, myositis, and arthritis may also develop. […] Mixed connective tissue disease can be particularly severe in children, due to: Cardiac disease, Renal impairment, Thrombocytopenia. […] Late stage complications of mixed connective tissue disease include nephritis, pericarditis and myocarditis, and interstitial lung disease. […] Around one-third of patients with mixed connective tissue have mild disease, requiring only anti-inflammatories, and may go into remission where no U1-RNP antibodies are detected. […] Another one-third of patients have a progressive course developing progressive systemic sclerosis, which has a poor outcome. […] Pulmonary hypertension is the main cause of death.
  • #151 Mixed Connective Tissue Disease (MCTD): Symptoms & Treatment
    https://my.clevelandclinic.org/health/diseases/15039-mixed-connective-tissue-disease
    MCTD can lead to severe complications, including: High blood pressure in your lungs (pulmonary hypertension), Interstitial lung disease, Heart disease, Kidney damage, Digestive tract damage, Anemia, Tissue death (necrosis), Hearing loss, Nerve damage. […] Treatment for MCTD depends on which organs are affected, your symptoms and how severe your condition is. Some people may need treatment only during flare-ups, while others may require constant care. Theres no cure for the disease, but medication can help you manage your symptoms. […] With proper treatment, 80% of people survive at least 10 years after diagnosis.
  • #152
    https://arthritis.ca/about-arthritis/arthritis-types-(a-z)/types/mixed-connective-tissue-disease-(mctd)
    In general, the more advanced the disease and the greater the organ damage, the less effective the treatment will be. Scleroderma-like damage to the skin and esophagus is least likely to respond to treatment. Symptom-free periods can sometimes last for many years with minimal or no ongoing treatment. However, MCTD will progress in spite of treatment in about 13 per cent of cases. In large part, the prognosis for MCTD is usually quite good.