Mieszana choroba tkanki łącznej
Epidemiologia

Mieszana choroba tkanki łącznej (MCTD) to rzadka choroba autoimmunologiczna charakteryzująca się obecnością wysokiego miana przeciwciał anty-U1-RNP oraz cechami klinicznymi typowymi dla SLE, SSc, RZS i PM. Epidemiologia MCTD jest zróżnicowana, z roczną zapadalnością wahającą się od 0,2 do 1,9 na 100 000 dorosłych, a chorobowość w różnych populacjach wynosi od 2,7 do 6,4 na 100 000. Kobiety stanowią zdecydowaną większość chorych (stosunek kobiet do mężczyzn od 3:1 do 16:1), a średni wiek diagnozy mieści się w przedziale 35-48 lat. Diagnostyka jest utrudniona ze względu na nakładające się objawy z innymi chorobami tkanki łącznej, co skutkuje medianą opóźnienia diagnozy wynoszącą około 3,6 lat. W badaniach populacyjnych wykazano, że MCTD jest stosunkowo stabilną jednostką chorobową, z 12% pacjentów rozwijających inne choroby reumatyczne po średnio 17 latach obserwacji. Najważniejszym predyktorem remisji jest wyższa pojemność życiowa płuc (FVC % należnej) na początku choroby.

  1. Epidemiologia Mieszanej Choroby Tkanki Łącznej
    1. Występowanie i zapadalność na świecie
    2. Chorobowość w różnych populacjach
    3. Rozkład według płci i wieku
    4. Różnice etniczne i rasowe
  2. Nadzór epidemiologiczny w MCTD
    1. Wyzwania w diagnozie i nadzorze
    2. Stabilność fenotypowa i remisja choroby
    3. Systemy nadzoru i programy badawcze
    4. Monitorowanie pacjentów z MCTD
    5. Ciąża i MCTD
    6. MCTD w populacji pediatrycznej
    7. Kolejne rozdziały

Epidemiologia Mieszanej Choroby Tkanki Łącznej

Mieszana choroba tkanki łącznej (MCTD) jest rzadką chorobą autoimmunologiczną charakteryzującą się obecnością wysokiego miana przeciwciał anty-U1-RNP w połączeniu z cechami klinicznymi typowo obserwowanymi w toczniu rumieniowatym układowym (SLE), twardzinie układowej (SSc), reumatoidalnym zapaleniu stawów (RZS) i zapaleniu wielomięśniowym (PM).1 Dane epidemiologiczne dotyczące MCTD są ograniczone ze względu na rzadkość choroby, heterogenną prezentację oraz stosowanie różnych kryteriów klasyfikacyjnych.2

Występowanie i zapadalność na świecie

Szacunki dotyczące rocznej zapadalności na MCTD wahają się od 0,2 do 1,9 na 100 000 dorosłych.3 Badanie populacyjne z Olmsted County w stanie Minnesota wykazało, że MCTD występowała u około 2 osób na 100 000 rocznie.4 Diagnoza była często opóźniona, z medianą 3,6 lat od wystąpienia pierwszego objawu do spełnienia kryteriów diagnostycznych.5

W norweskim badaniu populacyjnym roczna zapadalność wynosiła 2,1 przypadku na milion mieszkańców.6 Badanie z Wielkiej Brytanii przeprowadzone w latach 2000-2022 wykazało, że zapadalność na MCTD utrzymywała się konsekwentnie poniżej 1 na 100 000 osobolat, chociaż zaobserwowano skokowy wzrost zapadalności przed i po 2007 roku.7

W Sudanie badanie przeprowadzone w klinice reumatologicznej wykazało, że tylko 30 pacjentów spośród wszystkich badanych spełniało kryteria Alarcón-Segovii dla MCTD, potwierdzając rzadkość występowania tej choroby wśród pacjentów sudańskich.8

Chorobowość w różnych populacjach

Chorobowość MCTD różni się w zależności od populacji. Badania wykazały następujące wskaźniki chorobowości:

  • Norwegia: 3,8 przypadków na 100 000 dorosłej populacji9
  • Japonia: 2,7 przypadków na 100 000 populacji1011
  • Wielka Brytania: do 5,1 przypadków na 100 000 w 2021 roku u dorosłych12
  • USA – Indianie Amerykańscy i rdzenni mieszkańcy Alaski: 6,4 na 100 000 (95% przedział ufności 2,8-12,8)13

W programie nadzoru nad toczniem na Manhattanie (Manhattan Lupus Surveillance Program – MLSP) przeprowadzono badanie populacyjne, które dostarczyło szacunków chorobowości i zapadalności na MCTD w zróżnicowanej rasowo/etnicznie populacji.14 W zależności od zastosowanych kryteriów diagnostycznych, chorobowość MCTD skorygowana względem wieku wynosiła:

  • 1,28 (95% CI 0,72, 2,09) na 100 000 przy zastosowaniu zmodyfikowanych kryteriów Alarcon-Segovia i Kahna15
  • 2,98 (95% CI 2,10, 4,11) na 100 000 przy zastosowaniu definicji MCTD bez współistniejącego rozpoznania innej choroby tkanki łącznej16
  • 16,22 (95% CI 14,00, 18,43) na 100 000 przy zastosowaniu rozpoznania MCTD niezależnie od współistniejących rozpoznań innych chorób tkanki łącznej17

Zapadalność skorygowana względem wieku wynosiła:

  • 0,39 (95% CI 0,22, 0,64) na 100 000 przy zastosowaniu definicji MCTD bez współistniejącego rozpoznania innej choroby tkanki łącznej18
  • 1,90 (95% CI 1,49, 2,39) na 100 000 przy zastosowaniu rozpoznania MCTD niezależnie od współistniejących rozpoznań innych chorób tkanki łącznej19

Rozkład według płci i wieku

MCTD występuje znacznie częściej u kobiet niż u mężczyzn. Szacunkowy stosunek kobiet do mężczyzn waha się od około 3:1 do 16:1.20 W badaniu z Olmsted County 84% osób dotkniętych chorobą stanowiły kobiety.21 W badaniu norweskiej populacji stosunek kobiet do mężczyzn wynosił 3,3:1.22 W ogólnokrajowym badaniu japońskim wskazano stosunek kobiet do mężczyzn wynoszący 16:1.23 Francuskie badanie kohortowe obejmujące 330 pacjentów wykazało, że 88% stanowiły kobiety.24

Szczyt zachorowań przypada na okres dojrzewania i wiek 20-30 lat, choć choroba może wystąpić w każdym wieku.2526 Średni wiek w momencie diagnozy różni się w zależności od badania:

  • W badaniu z Olmsted County: 48 lat27
  • W badaniu norweskim: 37,9 lat28
  • We francuskim badaniu kohortowym: mediana 35 lat29
  • W badaniu z Sudanu: średnia 45 lat (zakres 25-71 lat)30

Różnice etniczne i rasowe

MCTD występuje na całym świecie i dotyka wszystkich ras.31 Manifestacje kliniczne MCTD wydają się być podobne we wszystkich grupach rasowych/etnicznych, choć w raportach populacyjnych pojawiają się pewne różnice.32 Jedno z badań zaobserwowało różnice etniczne w częstości zajęcia narządów końcowych; refluks żołądkowo-przełykowy, sklerodaktylia i rumień na twarzy były znacząco częstsze w grupie białej niż w grupie składającej się z 57% Latynosów, 29% czarnoskórych i 14% białych.33

W Indiach badanie kohortowe 111 pacjentów z MCTD z Vellore wykazało, że 92,8% stanowiły kobiety, a średni wiek w momencie wystąpienia choroby wynosił 39,3 lat. Śródmiąższowa choroba płuc (ILD) i nadciśnienie płucne (PAH) były obecne odpowiednio u 38,7% i 44% pacjentów.34

Nadzór epidemiologiczny w MCTD

Wyzwania w diagnozie i nadzorze

Rozpoznanie MCTD często stanowi wyzwanie diagnostyczne ze względu na nakładające się cechy z innymi chorobami układowymi tkanki łącznej.35 Błędna diagnoza na początku choroby jest powszechna, występująca nawet u 61% pacjentów w badaniu z jednego ośrodka.36 Badanie z Olmsted County wykazało, że mediana czasu od pierwszego objawu do spełnienia kryteriów diagnostycznych wynosiła 3,6 lat.37

Warjacja w szacunkach występowania MCTD przy zastosowaniu różnych definicji przypadków odzwierciedla trudności w badaniu MCTD, gdzie diagnoza jest często stosowana wraz z innymi rozpoznaniami chorób tkanki łącznej.38 Jak podkreślono w niedawnym badaniu epidemiologii MCTD, przydatne byłoby powtórzenie badań w różnych regionach, aby ocenić potencjalne konsekwencje lokalnych osobliwości.39

Stabilność fenotypowa i remisja choroby

W długoterminowym ogólnokrajowym prospektywnym badaniu kohortowym z Norwegii oceniano stabilność fenotypową MCTD i występowanie remisji choroby.40 Spośród 118 pacjentów, 14 (12%) rozwinęło inną dobrze zdefiniowaną chorobę reumatyczną po średnim czasie trwania choroby wynoszącym 17 lat (SD 9).41 Wyniki te wzmacniają pogląd na MCTD jako stosunkowo stabilną jednostkę chorobową.42

Długotrwała remisja w MCTD nie jest częsta. W badaniu norweskim:

  • 13% pacjentów spełniało definicję trwałej remisji (przez cały okres obserwacji)43
  • 30% pacjentów spełniało definicję przedłużonej remisji44
  • 46% pacjentów było w remisji w momencie ponownego badania45

Najsilniejszym predyktorem remisji we wszystkich punktach czasowych była wyższa pojemność życiowa płuc (FVC % należnej) na początku badania, co może odzwierciedlać związek między chorobą płuc a aktywnością MCTD.46

Systemy nadzoru i programy badawcze

Program nadzoru nad toczniem na Manhattanie (MLSP) to finansowany przez Centra Kontroli i Zapobiegania Chorobom (CDC) rejestr populacyjny, który rejestrował szczegółowe dane kliniczne dotyczące dużej, wielorasowej/etnicznej populacji pacjentów z SLE i pokrewnymi chorobami, w tym MCTD, mieszkających na Manhattanie.47 Program ten pozwolił oszacować chorobowość i zapadalność na MCTD w zróżnicowanej populacji.48

Zgodnie z danymi z ClinicalTrials.gov, przeprowadzono co najmniej 11 badań klinicznych dotyczących MCTD, w tym 1 aktywne, 4 zakończone i 4 rekrutujące.49 Istnieje 260 wiodących ekspertów medycznych specjalizujących się w MCTD w 37 krajach i 21 stanach USA, w tym 115 lekarzy.50

Monitorowanie pacjentów z MCTD

Pacjenci z MCTD wymagają regularnego monitorowania pod kątem potencjalnych powikłań narządowych, szczególnie nadciśnienia płucnego, które zostało uznane za najczęstszą przyczynę zgonów związanych z chorobą.5152 Lekarze monitorują osoby z MCTD pod kątem nadciśnienia płucnego, wykonując badania czynnościowe płuc, echokardiografię lub oba te badania co 1-2 lata, w zależności od objawów.53

Przeciwciała antykardiolipinowe klasy IgG są markerem rozwoju nadciśnienia płucnego.54 Infekcje są również główną przyczyną zgonów w MCTD.55

W pięciu seriach MCTD (łącznie 194 pacjentów) śmiertelność była ogólnie niska (średnio 13%; zakres 4-35%), niemniej jednak fakt, że MCTD dotyka młode kobiety, wskazuje na większe ryzyko przedwczesnej śmierci.56

Populacja Chorobowość (na 100 000) Zapadalność roczna Stosunek kobiet do mężczyzn Średni wiek diagnozy
USA (Minnesota) – 1,9 na 100 000 5:1 48 lat
Norwegia 3,8 2,1 na milion 3,3:1 37,9 lat
Japonia 2,7 – 16:1 –
Wielka Brytania (2021) 5,1 <1 na 100 000 – –
Indianie Amerykańscy i rdzenni mieszkańcy Alaski 6,4 – – –
Francja – – 7,3:1 35 lat (mediana)
Indie – – 12:1 39,3 lat
Sudan – – Tylko kobiety w badaniu 45 lat (średnia)

Ciąża i MCTD

Choroby autoimmunologiczne tkanki łącznej w ciąży stanowią złożone współoddziaływanie między zdrowiem matki a wynikami płodowymi.57 Wieloośrodkowe retrospektywne badanie kohortowe opisało wyniki płodowe i matczyne u 203 ciąż u 94 kolejnych kobiet z MCTD (średni wiek w momencie zbierania danych 45,1 lat, średni czas trwania choroby 12,9 lat).58

Obserwowany wskaźnik żywych urodzeń był dość wysoki, wynoszący 72%, z gorszymi wynikami płodowymi u kobiet z MCTD z przeciwciałami antyfosfolipidowymi oraz zajęciem płuc lub mięśni.59 Kobiety z MCTD powinny otrzymać specjalne poradnictwo przy planowaniu ciąży, podobnie jak kobiety z SLE.60

MCTD w populacji pediatrycznej

MCTD jest jednym z najrzadziej występujących zaburzeń w klinice reumatologii dziecięcej. Miała częstość występowania 0,1% w fińskim ogólnokrajowym badaniu prospektywnym i 0,3% w amerykańskiej bazie danych reumatologii dziecięcej. Dane z rejestru chorób Brytyjskiego Stowarzyszenia Reumatologii Pediatrycznej i Kanadyjskiego Stowarzyszenia Reumatologii Pediatrycznej wykazały częstości odpowiednio 0,5% i 0,2%.61

Mediana wieku w momencie wystąpienia choroby wynosiła około 11 lat (zakres: od 4 do 16 lat). MCTD występowała trzy razy częściej u dziewcząt niż u chłopców.6263

W badaniu przekrojowym skupiającym się na manifestacjach w klatce piersiowej u pacjentów z MCTD o początku w wieku dziecięcym zidentyfikowano śródmiąższową chorobę płuc u 25% kohorty. Wszystkie przypadki z wyjątkiem jednego miały łagodny przebieg, dotykając 5% lub mniej miąższu płucnego. DLCO było nieprawidłowe u 33% pacjentów. Autorzy doszli do wniosku, że częstość występowania śródmiąższowej choroby płuc w MCTD o początku w dzieciństwie była niższa niż wcześniej sądzono.64

Badanie z Francji wykazało, że zapadalność na MCTD i zespoły nakładania się chorób autoimmunologicznych (OAS) u dzieci we Francuskich Antylach wynosiła 0,23 na 100 000 dzieci-lat.65 Jest to pierwsze pediatryczne badanie kohortowe MCTD i OAS u pacjentów pochodzenia afrykańskiego, leczonych w kraju o wysokim standardzie opieki, z danymi z długoterminowej obserwacji.66

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  1. 16.04.2026
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Materiały źródłowe

  • #1 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). […] Epidemiology – There is limited information regarding the prevalence and incidence of mixed connective tissue disease (MCTD). MCTD occurs worldwide and affects all races, with a peak incidence in adolescence and the 20s. […] Estimates of the annual incidence of MCTD range from 0.2 to 1.9 per 100,000 adults. MCTD is much more common in females than males, although estimates of the difference range widely (from 3:1 to 16:1).
  • #2 Towards early diagnosis of mixed connective tissue disease | ITT
    https://www.dovepress.com/towards-early-diagnosis-of-mixed-connective-tissue-disease-updated-per-peer-reviewed-fulltext-article-ITT
    Mixed Connective Tissue Disease (MCTD) is an autoimmune disease first described by Sharp et al in 1972, characterized by the presence of anti-Ribonucleoprotein antibodies directed against the U1 complex (anti-U1RNP). […] The epidemiology of MCTD is affected by several potential biases, due to its rarity, heterogeneous presentation, and the presence of multiple subsets of proposed classification criteria to define the condition. […] The incidence of MCTD is reported at 2.119 per million per year, with a prevalence of about 3 per 100,000 persons, and a female-to-male ratio of 35:1. […] Despite its multi-organ involvement, mortality was described as similar to the general population. […] The aim of this review is to summarize current knowledge on the early recognition of MCTD. […] MCTD is a rare condition, and diagnosis is further complicated by the presence of overlapping features with other conditions.
  • #3 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). […] Epidemiology – There is limited information regarding the prevalence and incidence of mixed connective tissue disease (MCTD). MCTD occurs worldwide and affects all races, with a peak incidence in adolescence and the 20s. […] Estimates of the annual incidence of MCTD range from 0.2 to 1.9 per 100,000 adults. MCTD is much more common in females than males, although estimates of the difference range widely (from 3:1 to 16:1).
  • #4 Mixed Connective-Tissue Disease (MCTD): Practice Essentials, Pathophysiology, Etiology
    https://emedicine.medscape.com/article/1006966-overview
    A population-based study from Olmsted County, Minnesota found that MCTD occurred in about 2 persons per 100,000 per year. Diagnosis was frequently delayed, with a median of 3.6 years elapsing from first symptom to fulfillment of diagnostic criteria. […] A study in American Indian and Alaska Native adults found a prevalence of 6.4 per 100,000 (95% confidence interval 2.8-12.8). […] In an epidemiologic survey in Japan, MCTD has a reported prevalence of 2.7 cases per 100,000 population. […] A population-based study in Norway found the point prevalence rate to be 3.8 cases per 100,000 adult population, with a female-to-male ratio of 3.3:1, and an annual incidence rate of 2.1 per million population. […] Long-term outcome studies have established pulmonary hypertension as the most common disease-related cause of death.
  • #5 Mixed Connective-Tissue Disease (MCTD): Practice Essentials, Pathophysiology, Etiology
    https://emedicine.medscape.com/article/1006966-overview
    A population-based study from Olmsted County, Minnesota found that MCTD occurred in about 2 persons per 100,000 per year. Diagnosis was frequently delayed, with a median of 3.6 years elapsing from first symptom to fulfillment of diagnostic criteria. […] A study in American Indian and Alaska Native adults found a prevalence of 6.4 per 100,000 (95% confidence interval 2.8-12.8). […] In an epidemiologic survey in Japan, MCTD has a reported prevalence of 2.7 cases per 100,000 population. […] A population-based study in Norway found the point prevalence rate to be 3.8 cases per 100,000 adult population, with a female-to-male ratio of 3.3:1, and an annual incidence rate of 2.1 per million population. […] Long-term outcome studies have established pulmonary hypertension as the most common disease-related cause of death.
  • #6 Mixed Connective Tissue Disease | Treatment & Management | Point of Care
    https://www.statpearls.com/point-of-care/25207
    MCTD is a rare disease, and its exact incidence is unknown. In a population-based study from Olmsted County, Minnesota, the incidence of MCTD was 1.9 per 100,000 adults per year. The mean age of diagnosis was 48 years, and 84% of those affected were female. […] In a study of the Norwegian population, the incidence of MCTD was 2.1 per million per year, the female-to-male ratio was 3.3 to 1, and the mean age at diagnosis was 37.9 years. […] In a French cohort study involving 330 patients over a median time of 8 years, 88% were female, with a median age of 35. This disease affects all races, and its clinical manifestations seem to be similar in all racial/ethnic groups, although some differences are emerging in population-based reports.
  • #7 OP0122 INCIDENCE, PREVALENCE, NATURAL HISTORY, AND PRIMARY CARE TREATMENT OF MIXED CONNECTIVE TISSUE DISEASE IN THE UNITED KINGDOM, 2000-2022: A POPULATION-BASED COHORT STUDY | Annals of the Rheumatic Diseases
    https://bibliotheek.ehb.be:2673/content/83/Suppl_1/155
    Mixed connective tissue disease (MCTD) is a rare autoimmune disorder characterised by features of multiple connective tissue diseases including systemic sclerosis, systemic lupus erythematosus (SLE) and polymyositis (PM). Little is known about the epidemiology of MCTD in the United Kingdom, or the medications used in this patient population. […] The objectives of the study were to calculate the incidence and prevalence of MCTD in the United Kingdom, and to describe the common symptoms, co-morbidities, and treatments recorded in routinely collected healthcare data in patients with this disease. […] The incidence of MCTD remained consistently below 1 per 100,000 person years during the study period, although a step-change increase was seen in incidence pre- and post-2007. The prevalence of MCTD appeared to rise steadily through the study period, peaking at 5.1 cases per 100,000 in 2021 in adults. […] MCTD is a rare disease and most commonly diagnosed in middle-aged female patients. The low prevalence of MCTD means potential treatments would potentially meet the European Medicine Agency’s criteria for orphan designation.
  • #8 Incidence and Pattern of Mixed Connective Tissue Disease | OARRR
    https://www.dovepress.com/incidence-and-clinical-pattern-of-mixed-connective-tissue-disease-in-s-peer-reviewed-fulltext-article-OARRR
    The study showed that only 30 patients out of those attending the rheumatology clinic during the study period were fulfilling the Alarcon-Segovias criteria for MCTD, revealing that the disease is rare among Sudanese patients. The disease is most common in females than males, mainly among the age group 30-39 years.
  • #9 Mixed Connective-Tissue Disease (MCTD): Practice Essentials, Pathophysiology, Etiology
    https://emedicine.medscape.com/article/1006966-overview
    A population-based study from Olmsted County, Minnesota found that MCTD occurred in about 2 persons per 100,000 per year. Diagnosis was frequently delayed, with a median of 3.6 years elapsing from first symptom to fulfillment of diagnostic criteria. […] A study in American Indian and Alaska Native adults found a prevalence of 6.4 per 100,000 (95% confidence interval 2.8-12.8). […] In an epidemiologic survey in Japan, MCTD has a reported prevalence of 2.7 cases per 100,000 population. […] A population-based study in Norway found the point prevalence rate to be 3.8 cases per 100,000 adult population, with a female-to-male ratio of 3.3:1, and an annual incidence rate of 2.1 per million population. […] Long-term outcome studies have established pulmonary hypertension as the most common disease-related cause of death.
  • #10 Mixed Connective-Tissue Disease (MCTD): Practice Essentials, Pathophysiology, Etiology
    https://emedicine.medscape.com/article/1006966-overview
    A population-based study from Olmsted County, Minnesota found that MCTD occurred in about 2 persons per 100,000 per year. Diagnosis was frequently delayed, with a median of 3.6 years elapsing from first symptom to fulfillment of diagnostic criteria. […] A study in American Indian and Alaska Native adults found a prevalence of 6.4 per 100,000 (95% confidence interval 2.8-12.8). […] In an epidemiologic survey in Japan, MCTD has a reported prevalence of 2.7 cases per 100,000 population. […] A population-based study in Norway found the point prevalence rate to be 3.8 cases per 100,000 adult population, with a female-to-male ratio of 3.3:1, and an annual incidence rate of 2.1 per million population. […] Long-term outcome studies have established pulmonary hypertension as the most common disease-related cause of death.
  • #11 Mixed connective tissue disease overview – wikidoc
    https://www.wikidoc.org/index.php/Mixed_connective_tissue_disease_overview
    The incidence of mixed connective tissue disease is approximately 2.7 per 100,000 individuals per year. […] A nationwide study on MCTD showed the prevalence of mixed connective tissue disease was 2.7 per 100,000 individuals in Japan and 3.8 per 100,000 individuals in Norway. […] In MCTD, the mortality rate is nearly 10.4% over the period of 13-15 years. […] It is usually diagnosed during childhood and is more frequent among black and Asian population. […] The female to male ratio is approximately 10 to 1.
  • #12 OP0122 INCIDENCE, PREVALENCE, NATURAL HISTORY, AND PRIMARY CARE TREATMENT OF MIXED CONNECTIVE TISSUE DISEASE IN THE UNITED KINGDOM, 2000-2022: A POPULATION-BASED COHORT STUDY | Annals of the Rheumatic Diseases
    https://bibliotheek.ehb.be:2673/content/83/Suppl_1/155
    Mixed connective tissue disease (MCTD) is a rare autoimmune disorder characterised by features of multiple connective tissue diseases including systemic sclerosis, systemic lupus erythematosus (SLE) and polymyositis (PM). Little is known about the epidemiology of MCTD in the United Kingdom, or the medications used in this patient population. […] The objectives of the study were to calculate the incidence and prevalence of MCTD in the United Kingdom, and to describe the common symptoms, co-morbidities, and treatments recorded in routinely collected healthcare data in patients with this disease. […] The incidence of MCTD remained consistently below 1 per 100,000 person years during the study period, although a step-change increase was seen in incidence pre- and post-2007. The prevalence of MCTD appeared to rise steadily through the study period, peaking at 5.1 cases per 100,000 in 2021 in adults. […] MCTD is a rare disease and most commonly diagnosed in middle-aged female patients. The low prevalence of MCTD means potential treatments would potentially meet the European Medicine Agency’s criteria for orphan designation.
  • #13 Mixed Connective-Tissue Disease (MCTD): Practice Essentials, Pathophysiology, Etiology
    https://emedicine.medscape.com/article/1006966-overview
    A population-based study from Olmsted County, Minnesota found that MCTD occurred in about 2 persons per 100,000 per year. Diagnosis was frequently delayed, with a median of 3.6 years elapsing from first symptom to fulfillment of diagnostic criteria. […] A study in American Indian and Alaska Native adults found a prevalence of 6.4 per 100,000 (95% confidence interval 2.8-12.8). […] In an epidemiologic survey in Japan, MCTD has a reported prevalence of 2.7 cases per 100,000 population. […] A population-based study in Norway found the point prevalence rate to be 3.8 cases per 100,000 adult population, with a female-to-male ratio of 3.3:1, and an annual incidence rate of 2.1 per million population. […] Long-term outcome studies have established pulmonary hypertension as the most common disease-related cause of death.
  • #14 Population-based prevalence and incidence estimates of mixed connective tissue disease from the Manhattan Lupus Surveillance Program – PubMed
    https://pubmed.ncbi.nlm.nih.gov/36538873/
    Objective: Epidemiological data for MCTD are limited. Leveraging data from the Manhattan Lupus Surveillance Program (MLSP), a racially/ethnically diverse population-based registry of cases with SLE and related diseases including MCTD, we provide estimates of the prevalence and incidence of MCTD. […] Overall, 258 (7.7%) cases met a definition of MCTD. Using our modified Alarcon-Segovia and Kahn criteria for MCTD, the age-adjusted prevalence was 1.28 (95% CI 0.72, 2.09) per 100 000. Using our definition of a diagnosis of MCTD and no other diagnosis of another CTD yielded an age-adjusted prevalence and incidence of MCTD of 2.98 (95% CI 2.10, 4.11) per 100 000 and 0.39 (95% CI 0.22, 0.64) per 100 000, respectively. The age-adjusted prevalence and incidence were highest using a diagnosis of MCTD regardless of other CTD diagnoses and were 16.22 (95% CI 14.00, 18.43) per 100 000 and 1.90 (95% CI 1.49, 2.39) per 100 000, respectively. […] The MLSP provided estimates for the prevalence and incidence of MCTD in a diverse population. The variation in estimates using different case definitions is reflective of the challenge of defining MCTD in epidemiologic studies.
  • #15 Population-based prevalence and incidence estimates of mixed connective tissue disease from the Manhattan Lupus Surveillance Program – PubMed
    https://pubmed.ncbi.nlm.nih.gov/36538873/
    Objective: Epidemiological data for MCTD are limited. Leveraging data from the Manhattan Lupus Surveillance Program (MLSP), a racially/ethnically diverse population-based registry of cases with SLE and related diseases including MCTD, we provide estimates of the prevalence and incidence of MCTD. […] Overall, 258 (7.7%) cases met a definition of MCTD. Using our modified Alarcon-Segovia and Kahn criteria for MCTD, the age-adjusted prevalence was 1.28 (95% CI 0.72, 2.09) per 100 000. Using our definition of a diagnosis of MCTD and no other diagnosis of another CTD yielded an age-adjusted prevalence and incidence of MCTD of 2.98 (95% CI 2.10, 4.11) per 100 000 and 0.39 (95% CI 0.22, 0.64) per 100 000, respectively. The age-adjusted prevalence and incidence were highest using a diagnosis of MCTD regardless of other CTD diagnoses and were 16.22 (95% CI 14.00, 18.43) per 100 000 and 1.90 (95% CI 1.49, 2.39) per 100 000, respectively. […] The MLSP provided estimates for the prevalence and incidence of MCTD in a diverse population. The variation in estimates using different case definitions is reflective of the challenge of defining MCTD in epidemiologic studies.
  • #16 Population-based prevalence and incidence estimates of mixed connective tissue disease from the Manhattan Lupus Surveillance Program – PubMed
    https://pubmed.ncbi.nlm.nih.gov/36538873/
    Objective: Epidemiological data for MCTD are limited. Leveraging data from the Manhattan Lupus Surveillance Program (MLSP), a racially/ethnically diverse population-based registry of cases with SLE and related diseases including MCTD, we provide estimates of the prevalence and incidence of MCTD. […] Overall, 258 (7.7%) cases met a definition of MCTD. Using our modified Alarcon-Segovia and Kahn criteria for MCTD, the age-adjusted prevalence was 1.28 (95% CI 0.72, 2.09) per 100 000. Using our definition of a diagnosis of MCTD and no other diagnosis of another CTD yielded an age-adjusted prevalence and incidence of MCTD of 2.98 (95% CI 2.10, 4.11) per 100 000 and 0.39 (95% CI 0.22, 0.64) per 100 000, respectively. The age-adjusted prevalence and incidence were highest using a diagnosis of MCTD regardless of other CTD diagnoses and were 16.22 (95% CI 14.00, 18.43) per 100 000 and 1.90 (95% CI 1.49, 2.39) per 100 000, respectively. […] The MLSP provided estimates for the prevalence and incidence of MCTD in a diverse population. The variation in estimates using different case definitions is reflective of the challenge of defining MCTD in epidemiologic studies.
  • #17 Population-based prevalence and incidence estimates of mixed connective tissue disease from the Manhattan Lupus Surveillance Program – PubMed
    https://pubmed.ncbi.nlm.nih.gov/36538873/
    Objective: Epidemiological data for MCTD are limited. Leveraging data from the Manhattan Lupus Surveillance Program (MLSP), a racially/ethnically diverse population-based registry of cases with SLE and related diseases including MCTD, we provide estimates of the prevalence and incidence of MCTD. […] Overall, 258 (7.7%) cases met a definition of MCTD. Using our modified Alarcon-Segovia and Kahn criteria for MCTD, the age-adjusted prevalence was 1.28 (95% CI 0.72, 2.09) per 100 000. Using our definition of a diagnosis of MCTD and no other diagnosis of another CTD yielded an age-adjusted prevalence and incidence of MCTD of 2.98 (95% CI 2.10, 4.11) per 100 000 and 0.39 (95% CI 0.22, 0.64) per 100 000, respectively. The age-adjusted prevalence and incidence were highest using a diagnosis of MCTD regardless of other CTD diagnoses and were 16.22 (95% CI 14.00, 18.43) per 100 000 and 1.90 (95% CI 1.49, 2.39) per 100 000, respectively. […] The MLSP provided estimates for the prevalence and incidence of MCTD in a diverse population. The variation in estimates using different case definitions is reflective of the challenge of defining MCTD in epidemiologic studies.
  • #18 Population-based prevalence and incidence estimates of mixed connective tissue disease from the Manhattan Lupus Surveillance Program – PubMed
    https://pubmed.ncbi.nlm.nih.gov/36538873/
    Objective: Epidemiological data for MCTD are limited. Leveraging data from the Manhattan Lupus Surveillance Program (MLSP), a racially/ethnically diverse population-based registry of cases with SLE and related diseases including MCTD, we provide estimates of the prevalence and incidence of MCTD. […] Overall, 258 (7.7%) cases met a definition of MCTD. Using our modified Alarcon-Segovia and Kahn criteria for MCTD, the age-adjusted prevalence was 1.28 (95% CI 0.72, 2.09) per 100 000. Using our definition of a diagnosis of MCTD and no other diagnosis of another CTD yielded an age-adjusted prevalence and incidence of MCTD of 2.98 (95% CI 2.10, 4.11) per 100 000 and 0.39 (95% CI 0.22, 0.64) per 100 000, respectively. The age-adjusted prevalence and incidence were highest using a diagnosis of MCTD regardless of other CTD diagnoses and were 16.22 (95% CI 14.00, 18.43) per 100 000 and 1.90 (95% CI 1.49, 2.39) per 100 000, respectively. […] The MLSP provided estimates for the prevalence and incidence of MCTD in a diverse population. The variation in estimates using different case definitions is reflective of the challenge of defining MCTD in epidemiologic studies.
  • #19 Population-based prevalence and incidence estimates of mixed connective tissue disease from the Manhattan Lupus Surveillance Program – PubMed
    https://pubmed.ncbi.nlm.nih.gov/36538873/
    Objective: Epidemiological data for MCTD are limited. Leveraging data from the Manhattan Lupus Surveillance Program (MLSP), a racially/ethnically diverse population-based registry of cases with SLE and related diseases including MCTD, we provide estimates of the prevalence and incidence of MCTD. […] Overall, 258 (7.7%) cases met a definition of MCTD. Using our modified Alarcon-Segovia and Kahn criteria for MCTD, the age-adjusted prevalence was 1.28 (95% CI 0.72, 2.09) per 100 000. Using our definition of a diagnosis of MCTD and no other diagnosis of another CTD yielded an age-adjusted prevalence and incidence of MCTD of 2.98 (95% CI 2.10, 4.11) per 100 000 and 0.39 (95% CI 0.22, 0.64) per 100 000, respectively. The age-adjusted prevalence and incidence were highest using a diagnosis of MCTD regardless of other CTD diagnoses and were 16.22 (95% CI 14.00, 18.43) per 100 000 and 1.90 (95% CI 1.49, 2.39) per 100 000, respectively. […] The MLSP provided estimates for the prevalence and incidence of MCTD in a diverse population. The variation in estimates using different case definitions is reflective of the challenge of defining MCTD in epidemiologic studies.
  • #20 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). […] Epidemiology – There is limited information regarding the prevalence and incidence of mixed connective tissue disease (MCTD). MCTD occurs worldwide and affects all races, with a peak incidence in adolescence and the 20s. […] Estimates of the annual incidence of MCTD range from 0.2 to 1.9 per 100,000 adults. MCTD is much more common in females than males, although estimates of the difference range widely (from 3:1 to 16:1).
  • #21 Mixed Connective Tissue Disease | Treatment & Management | Point of Care
    https://www.statpearls.com/point-of-care/25207
    MCTD is a rare disease, and its exact incidence is unknown. In a population-based study from Olmsted County, Minnesota, the incidence of MCTD was 1.9 per 100,000 adults per year. The mean age of diagnosis was 48 years, and 84% of those affected were female. […] In a study of the Norwegian population, the incidence of MCTD was 2.1 per million per year, the female-to-male ratio was 3.3 to 1, and the mean age at diagnosis was 37.9 years. […] In a French cohort study involving 330 patients over a median time of 8 years, 88% were female, with a median age of 35. This disease affects all races, and its clinical manifestations seem to be similar in all racial/ethnic groups, although some differences are emerging in population-based reports.
  • #22 Mixed Connective Tissue Disease | Treatment & Management | Point of Care
    https://www.statpearls.com/point-of-care/25207
    MCTD is a rare disease, and its exact incidence is unknown. In a population-based study from Olmsted County, Minnesota, the incidence of MCTD was 1.9 per 100,000 adults per year. The mean age of diagnosis was 48 years, and 84% of those affected were female. […] In a study of the Norwegian population, the incidence of MCTD was 2.1 per million per year, the female-to-male ratio was 3.3 to 1, and the mean age at diagnosis was 37.9 years. […] In a French cohort study involving 330 patients over a median time of 8 years, 88% were female, with a median age of 35. This disease affects all races, and its clinical manifestations seem to be similar in all racial/ethnic groups, although some differences are emerging in population-based reports.
  • #23 Mixed connective tissue disease – Wikipedia
    https://en.wikipedia.org/wiki/Mixed_connective_tissue_disease
    There is currently very little epidemiologic data on MCTD. Japan’s statewide multicenter collaborative survey found a prevalence of 2.7% for MCTD. Globally, the prevalence of MCTD has been reported to be significantly lower. While there are ethnic differences in the development of anti-RNP antibodies and the prevalence of MCTD, the rate of clinical manifestations among patients from different ethnic groups remains consistent. MCTD is more frequent in women than men. A Japanese nationwide survey indicated a 16:1 female-to-male ratio for MCTD, while a longitudinal prospective clinical series from a tertiary referral institution in the midwestern US found an 11:1 ratio of women to men.
  • #24 Mixed Connective Tissue Disease | Treatment & Management | Point of Care
    https://www.statpearls.com/point-of-care/25207
    MCTD is a rare disease, and its exact incidence is unknown. In a population-based study from Olmsted County, Minnesota, the incidence of MCTD was 1.9 per 100,000 adults per year. The mean age of diagnosis was 48 years, and 84% of those affected were female. […] In a study of the Norwegian population, the incidence of MCTD was 2.1 per million per year, the female-to-male ratio was 3.3 to 1, and the mean age at diagnosis was 37.9 years. […] In a French cohort study involving 330 patients over a median time of 8 years, 88% were female, with a median age of 35. This disease affects all races, and its clinical manifestations seem to be similar in all racial/ethnic groups, although some differences are emerging in population-based reports.
  • #25 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). […] Epidemiology – There is limited information regarding the prevalence and incidence of mixed connective tissue disease (MCTD). MCTD occurs worldwide and affects all races, with a peak incidence in adolescence and the 20s. […] Estimates of the annual incidence of MCTD range from 0.2 to 1.9 per 100,000 adults. MCTD is much more common in females than males, although estimates of the difference range widely (from 3:1 to 16:1).
  • #26 Mixed Connective-Tissue Disease (MCTD): Practice Essentials, Pathophysiology, Etiology
    https://emedicine.medscape.com/article/1006966-overview
    Immunoglobulin G (IgG) anticardiolipin antibodies are a marker for development of pulmonary hypertension. Infections are also a major cause of death. […] MCTD has been reported in all races. The clinical manifestations of MCTD are similar among various ethnic groups; however, one study observed ethnic differences in the frequency of end-organ involvement; gastroesophageal reflux, sclerodactyly, and malar rash were significantly more common in a White group than in a group consisting of 57% Hispanics, 29% Blacks, and 14% Whites. […] MCTD is far more common in females than in males. Estimates of the female-to-male ratio vary from approximately 3:1 to 16:1. […] The onset of MCTD is typically at 15-25 years of age, but can occur at any age.
  • #27 Mixed Connective Tissue Disease | Treatment & Management | Point of Care
    https://www.statpearls.com/point-of-care/25207
    MCTD is a rare disease, and its exact incidence is unknown. In a population-based study from Olmsted County, Minnesota, the incidence of MCTD was 1.9 per 100,000 adults per year. The mean age of diagnosis was 48 years, and 84% of those affected were female. […] In a study of the Norwegian population, the incidence of MCTD was 2.1 per million per year, the female-to-male ratio was 3.3 to 1, and the mean age at diagnosis was 37.9 years. […] In a French cohort study involving 330 patients over a median time of 8 years, 88% were female, with a median age of 35. This disease affects all races, and its clinical manifestations seem to be similar in all racial/ethnic groups, although some differences are emerging in population-based reports.
  • #28 Mixed Connective Tissue Disease | Treatment & Management | Point of Care
    https://www.statpearls.com/point-of-care/25207
    MCTD is a rare disease, and its exact incidence is unknown. In a population-based study from Olmsted County, Minnesota, the incidence of MCTD was 1.9 per 100,000 adults per year. The mean age of diagnosis was 48 years, and 84% of those affected were female. […] In a study of the Norwegian population, the incidence of MCTD was 2.1 per million per year, the female-to-male ratio was 3.3 to 1, and the mean age at diagnosis was 37.9 years. […] In a French cohort study involving 330 patients over a median time of 8 years, 88% were female, with a median age of 35. This disease affects all races, and its clinical manifestations seem to be similar in all racial/ethnic groups, although some differences are emerging in population-based reports.
  • #29 Mixed Connective Tissue Disease | Treatment & Management | Point of Care
    https://www.statpearls.com/point-of-care/25207
    MCTD is a rare disease, and its exact incidence is unknown. In a population-based study from Olmsted County, Minnesota, the incidence of MCTD was 1.9 per 100,000 adults per year. The mean age of diagnosis was 48 years, and 84% of those affected were female. […] In a study of the Norwegian population, the incidence of MCTD was 2.1 per million per year, the female-to-male ratio was 3.3 to 1, and the mean age at diagnosis was 37.9 years. […] In a French cohort study involving 330 patients over a median time of 8 years, 88% were female, with a median age of 35. This disease affects all races, and its clinical manifestations seem to be similar in all racial/ethnic groups, although some differences are emerging in population-based reports.
  • #30 Incidence and Pattern of Mixed Connective Tissue Disease | OARRR
    https://www.dovepress.com/incidence-and-clinical-pattern-of-mixed-connective-tissue-disease-in-s-peer-reviewed-fulltext-article-OARRR
    The study showed that only 30 patients out of those attending the rheumatology clinic during the study period were fulfilling the Alarcon-Segovias criteria for MCTD, revealing that the disease is rare among Sudanese patients. The disease is most common in females than males, mainly among the age group 30-39 years.
  • #31 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). […] Epidemiology – There is limited information regarding the prevalence and incidence of mixed connective tissue disease (MCTD). MCTD occurs worldwide and affects all races, with a peak incidence in adolescence and the 20s. […] Estimates of the annual incidence of MCTD range from 0.2 to 1.9 per 100,000 adults. MCTD is much more common in females than males, although estimates of the difference range widely (from 3:1 to 16:1).
  • #32 Mixed Connective Tissue Disease | Treatment & Management | Point of Care
    https://www.statpearls.com/point-of-care/25207
    MCTD is a rare disease, and its exact incidence is unknown. In a population-based study from Olmsted County, Minnesota, the incidence of MCTD was 1.9 per 100,000 adults per year. The mean age of diagnosis was 48 years, and 84% of those affected were female. […] In a study of the Norwegian population, the incidence of MCTD was 2.1 per million per year, the female-to-male ratio was 3.3 to 1, and the mean age at diagnosis was 37.9 years. […] In a French cohort study involving 330 patients over a median time of 8 years, 88% were female, with a median age of 35. This disease affects all races, and its clinical manifestations seem to be similar in all racial/ethnic groups, although some differences are emerging in population-based reports.
  • #33 Mixed Connective-Tissue Disease (MCTD): Practice Essentials, Pathophysiology, Etiology
    https://emedicine.medscape.com/article/1006966-overview
    Immunoglobulin G (IgG) anticardiolipin antibodies are a marker for development of pulmonary hypertension. Infections are also a major cause of death. […] MCTD has been reported in all races. The clinical manifestations of MCTD are similar among various ethnic groups; however, one study observed ethnic differences in the frequency of end-organ involvement; gastroesophageal reflux, sclerodactyly, and malar rash were significantly more common in a White group than in a group consisting of 57% Hispanics, 29% Blacks, and 14% Whites. […] MCTD is far more common in females than in males. Estimates of the female-to-male ratio vary from approximately 3:1 to 16:1. […] The onset of MCTD is typically at 15-25 years of age, but can occur at any age.
  • #34
    https://journals.lww.com/ijru/fulltext/2021/16001/epidemiology_and_prevalence_of_connective_tissue.2.aspx
    In an Indian cohort of 111 MCTD patients from Vellore, 43 (38.7%) had ILD with predominantly lower zone involvement. Women constituted 92.8% of the cohort, and the mean age at presentation was 39.3 years. In a study from North India on 41 MCTD patients, ILD and PAH were present in 20 (57%) and 15 (44%) patients, respectively. In another retrospective study, 9 out of 16 patients with MCTD had ILD. Hence, ILD in MCTD is common and usually of NSIP pattern.
  • #35 Towards early diagnosis of mixed connective tissue disease | ITT
    https://www.dovepress.com/towards-early-diagnosis-of-mixed-connective-tissue-disease-updated-per-peer-reviewed-fulltext-article-ITT
    Distinguishing MCTD from other systemic rheumatic diseases, including overlap syndromes, is a clinical challenge due to the heterogeneity of disease presentations; misdiagnosis at presentation of the disease is thus common in up to 61% of a single center cohort. […] An early diagnosis of MCTD generally starts with the recognition of RA-like inflammatory arthritis, RP, myalgia/myositis, and rarely, trigeminal neuropathy. […] A correct early diagnosis can be made starting with the presence of the anti-U1RNP antibody, which is already present in patients before clinical disease onset. […] To correct classify patients, serological parameters such as complete blood count, hypocomplementemia, increased level of muscle enzymes and electrophoresis can support a suspicion of MCTD. […] The need for widely accepted and uniform criteria for MCTD diagnosis is required to allow further advances in knowledge on this topic.
  • #36 Towards early diagnosis of mixed connective tissue disease | ITT
    https://www.dovepress.com/towards-early-diagnosis-of-mixed-connective-tissue-disease-updated-per-peer-reviewed-fulltext-article-ITT
    Distinguishing MCTD from other systemic rheumatic diseases, including overlap syndromes, is a clinical challenge due to the heterogeneity of disease presentations; misdiagnosis at presentation of the disease is thus common in up to 61% of a single center cohort. […] An early diagnosis of MCTD generally starts with the recognition of RA-like inflammatory arthritis, RP, myalgia/myositis, and rarely, trigeminal neuropathy. […] A correct early diagnosis can be made starting with the presence of the anti-U1RNP antibody, which is already present in patients before clinical disease onset. […] To correct classify patients, serological parameters such as complete blood count, hypocomplementemia, increased level of muscle enzymes and electrophoresis can support a suspicion of MCTD. […] The need for widely accepted and uniform criteria for MCTD diagnosis is required to allow further advances in knowledge on this topic.
  • #37 Mixed Connective-Tissue Disease (MCTD): Practice Essentials, Pathophysiology, Etiology
    https://emedicine.medscape.com/article/1006966-overview
    A population-based study from Olmsted County, Minnesota found that MCTD occurred in about 2 persons per 100,000 per year. Diagnosis was frequently delayed, with a median of 3.6 years elapsing from first symptom to fulfillment of diagnostic criteria. […] A study in American Indian and Alaska Native adults found a prevalence of 6.4 per 100,000 (95% confidence interval 2.8-12.8). […] In an epidemiologic survey in Japan, MCTD has a reported prevalence of 2.7 cases per 100,000 population. […] A population-based study in Norway found the point prevalence rate to be 3.8 cases per 100,000 adult population, with a female-to-male ratio of 3.3:1, and an annual incidence rate of 2.1 per million population. […] Long-term outcome studies have established pulmonary hypertension as the most common disease-related cause of death.
  • #38 Population Based Prevalence and Incidence of Mixed Connective Tissue Disease from the Manhattan Lupus Surveillance Program – ACR Meeting Abstracts
    https://acrabstracts.org/abstract/population-based-prevalence-and-incidence-of-mixed-connective-tissue-disease-from-the-manhattan-lupus-surveillance-program/
    Population Based Prevalence and Incidence of Mixed Connective Tissue Disease from the Manhattan Lupus Surveillance Program […] The epidemiology of mixed connective tissue disease (MCTD) is not well described. Leveraging data from the Manhattan Lupus Surveillance Program (MLSP), a racially/ethnically diverse population-based retrospective registry of cases with SLE and related diseases including MCTD, we provide estimates of the prevalence and incidence of MCTD in Manhattan. […] Using our modified Alarcon-Segovia and Khan criteria for MCTD the age-adjusted prevalence was 1.28 (95% CI 0.72-2.09) per 100,000 but the incidence estimate was too small to calculate. Using our definition of a diagnosis of MCTD and no other diagnosis of another CTD yielded an age-adjusted prevalence and incidence of MCTD of 2.98 (95% CI 2.10-4.11) per 100,000 and 0.39 (CI 0.22-0.64) per 100,000, respectively. Finally, the age-adjusted prevalence and incidence were highest when using a diagnosis of MCTD regardless of other CTD diagnoses found in the charts and were 16.22 (CI 14.00-18.43) per 100,000 and 1.90 (CI 1.49-2.39) per 100,000 respectively. […] The MLSP allowed us to estimate prevalence and incidence of MCTD in a diverse population. The variation in estimates using both restrictive and liberal case definitions is reflective of the challenges of studying MCTD where the diagnosis is frequently used alongside other CTD diagnoses.
  • #39
    https://scite.ai/reports/population-based-prevalence-and-incidence-estimates-W8Y3gQ8J
    Objective Epidemiologic data for mixed connective tissue disease (MCTD) are limited. […] The Manhattan Lupus Surveillance Program (MLSP) is a Centers for Disease Control and Prevention (CDC) funded population-based registry that recorded detailed clinical data on the large, multiracial/ethnic population of patients with SLE and related diseases living in Manhattan. […] As emphasized in the introduction, restricting our study to a local area might increase patient homogeneity. However, as emphasized in a recent study of MCTD epidemiology, it would certainly be useful to repeat studies in different regions to assess the potential consequences of local peculiarities.
  • #40 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
    The phenotypic stability of mixed connective tissue disease (MCTD) is not clear, and knowledge about disease activity and remission is scarce. […] Among 118 patients, 14 (12%) developed another well-defined rheumatic condition other than MCTD after mean disease duration of 17 (SD 9) years. […] 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. […] Consensus on the stability of MCTD would affect future research and the management of patients. […] In this study, we aimed to examine the issue of phenotypic stability, and the prevalence and durability of disease remission in our unselected large population-based MCTD cohort.
  • #41 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
    The phenotypic stability of mixed connective tissue disease (MCTD) is not clear, and knowledge about disease activity and remission is scarce. […] Among 118 patients, 14 (12%) developed another well-defined rheumatic condition other than MCTD after mean disease duration of 17 (SD 9) years. […] 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. […] Consensus on the stability of MCTD would affect future research and the management of patients. […] In this study, we aimed to examine the issue of phenotypic stability, and the prevalence and durability of disease remission in our unselected large population-based MCTD cohort.
  • #42 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
    The phenotypic stability of mixed connective tissue disease (MCTD) is not clear, and knowledge about disease activity and remission is scarce. […] Among 118 patients, 14 (12%) developed another well-defined rheumatic condition other than MCTD after mean disease duration of 17 (SD 9) years. […] 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. […] Consensus on the stability of MCTD would affect future research and the management of patients. […] In this study, we aimed to examine the issue of phenotypic stability, and the prevalence and durability of disease remission in our unselected large population-based MCTD cohort.
  • #43 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
    The cumulative presence of puffy hands at T1 was the only predictor of MCTD phenotype stability at T2 (OR 6.5, CI 1.627.1, P=.010) in univariable logistic analyses. […] The majority of patients with active disease had arthritis and rash, followed by alopecia. […] The number of patients in remission (defined as a SLEDAI-2 K score=0 and EUSTAR activity index 2.5) during the observation period is shown in Fig. 2. In total 13 patients (13%) met the definition of durable remission, while 31 patients (30%) met the definition of extended remission and 48 patients (46%) were in remission at T2. […] 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 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. […] The results of this study indicate that the majority of patients with MCTD retain their phenotype during long-term observation and MCTD involves milder disease activity than SSc and SLE.
  • #44 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
    The cumulative presence of puffy hands at T1 was the only predictor of MCTD phenotype stability at T2 (OR 6.5, CI 1.627.1, P=.010) in univariable logistic analyses. […] The majority of patients with active disease had arthritis and rash, followed by alopecia. […] The number of patients in remission (defined as a SLEDAI-2 K score=0 and EUSTAR activity index 2.5) during the observation period is shown in Fig. 2. In total 13 patients (13%) met the definition of durable remission, while 31 patients (30%) met the definition of extended remission and 48 patients (46%) were in remission at T2. […] 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 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. […] The results of this study indicate that the majority of patients with MCTD retain their phenotype during long-term observation and MCTD involves milder disease activity than SSc and SLE.
  • #45 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
    The cumulative presence of puffy hands at T1 was the only predictor of MCTD phenotype stability at T2 (OR 6.5, CI 1.627.1, P=.010) in univariable logistic analyses. […] The majority of patients with active disease had arthritis and rash, followed by alopecia. […] The number of patients in remission (defined as a SLEDAI-2 K score=0 and EUSTAR activity index 2.5) during the observation period is shown in Fig. 2. In total 13 patients (13%) met the definition of durable remission, while 31 patients (30%) met the definition of extended remission and 48 patients (46%) were in remission at T2. […] 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 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. […] The results of this study indicate that the majority of patients with MCTD retain their phenotype during long-term observation and MCTD involves milder disease activity than SSc and SLE.
  • #46 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
    The cumulative presence of puffy hands at T1 was the only predictor of MCTD phenotype stability at T2 (OR 6.5, CI 1.627.1, P=.010) in univariable logistic analyses. […] The majority of patients with active disease had arthritis and rash, followed by alopecia. […] The number of patients in remission (defined as a SLEDAI-2 K score=0 and EUSTAR activity index 2.5) during the observation period is shown in Fig. 2. In total 13 patients (13%) met the definition of durable remission, while 31 patients (30%) met the definition of extended remission and 48 patients (46%) were in remission at T2. […] 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 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. […] The results of this study indicate that the majority of patients with MCTD retain their phenotype during long-term observation and MCTD involves milder disease activity than SSc and SLE.
  • #47
    https://scite.ai/reports/population-based-prevalence-and-incidence-estimates-W8Y3gQ8J
    Objective Epidemiologic data for mixed connective tissue disease (MCTD) are limited. […] The Manhattan Lupus Surveillance Program (MLSP) is a Centers for Disease Control and Prevention (CDC) funded population-based registry that recorded detailed clinical data on the large, multiracial/ethnic population of patients with SLE and related diseases living in Manhattan. […] As emphasized in the introduction, restricting our study to a local area might increase patient homogeneity. However, as emphasized in a recent study of MCTD epidemiology, it would certainly be useful to repeat studies in different regions to assess the potential consequences of local peculiarities.
  • #48 Population Based Prevalence and Incidence of Mixed Connective Tissue Disease from the Manhattan Lupus Surveillance Program – ACR Meeting Abstracts
    https://acrabstracts.org/abstract/population-based-prevalence-and-incidence-of-mixed-connective-tissue-disease-from-the-manhattan-lupus-surveillance-program/
    Population Based Prevalence and Incidence of Mixed Connective Tissue Disease from the Manhattan Lupus Surveillance Program […] The epidemiology of mixed connective tissue disease (MCTD) is not well described. Leveraging data from the Manhattan Lupus Surveillance Program (MLSP), a racially/ethnically diverse population-based retrospective registry of cases with SLE and related diseases including MCTD, we provide estimates of the prevalence and incidence of MCTD in Manhattan. […] Using our modified Alarcon-Segovia and Khan criteria for MCTD the age-adjusted prevalence was 1.28 (95% CI 0.72-2.09) per 100,000 but the incidence estimate was too small to calculate. Using our definition of a diagnosis of MCTD and no other diagnosis of another CTD yielded an age-adjusted prevalence and incidence of MCTD of 2.98 (95% CI 2.10-4.11) per 100,000 and 0.39 (CI 0.22-0.64) per 100,000, respectively. Finally, the age-adjusted prevalence and incidence were highest when using a diagnosis of MCTD regardless of other CTD diagnoses found in the charts and were 16.22 (CI 14.00-18.43) per 100,000 and 1.90 (CI 1.49-2.39) per 100,000 respectively. […] The MLSP allowed us to estimate prevalence and incidence of MCTD in a diverse population. The variation in estimates using both restrictive and liberal case definitions is reflective of the challenges of studying MCTD where the diagnosis is frequently used alongside other CTD diagnoses.
  • #49 Top Published Expert Doctors for Mixed Connective Tissue Disease
    https://findexpertmd.com/d/Mixed_Connective_Tissue_Disease
    260 top medical experts on Mixed Connective Tissue Disease across 37 countries and 21 U.S. states, including 115 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants. […] Clinical Trials ClinicalTrials.gov: at least 11 including 1 Active, 4 Completed, 4 Recruiting.
  • #50 Top Published Expert Doctors for Mixed Connective Tissue Disease
    https://findexpertmd.com/d/Mixed_Connective_Tissue_Disease
    260 top medical experts on Mixed Connective Tissue Disease across 37 countries and 21 U.S. states, including 115 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants. […] Clinical Trials ClinicalTrials.gov: at least 11 including 1 Active, 4 Completed, 4 Recruiting.
  • #51 Mixed Connective-Tissue Disease (MCTD): Practice Essentials, Pathophysiology, Etiology
    https://emedicine.medscape.com/article/1006966-overview
    A population-based study from Olmsted County, Minnesota found that MCTD occurred in about 2 persons per 100,000 per year. Diagnosis was frequently delayed, with a median of 3.6 years elapsing from first symptom to fulfillment of diagnostic criteria. […] A study in American Indian and Alaska Native adults found a prevalence of 6.4 per 100,000 (95% confidence interval 2.8-12.8). […] In an epidemiologic survey in Japan, MCTD has a reported prevalence of 2.7 cases per 100,000 population. […] A population-based study in Norway found the point prevalence rate to be 3.8 cases per 100,000 adult population, with a female-to-male ratio of 3.3:1, and an annual incidence rate of 2.1 per million population. […] Long-term outcome studies have established pulmonary hypertension as the most common disease-related cause of death.
  • #52
    https://step1.medbullets.com/msk/112045/mixed-connective-tissue-disease
    more common in women […] 15-25 years of age but can occur at any age […] The major cause of death is pulmonary hypertension in MCTD
  • #53 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
    Mixed connective tissue disease is more common among women than men. It occurs worldwide, affects people of all races, and often peaks in incidence during adolescence. […] The diagnosis of mixed connective tissue disease is based on all of the information doctors gather, including symptoms, physical examination results, and all test results. […] Doctors monitor people with mixed connective tissue disease for pulmonary hypertension by doing pulmonary function testing, echocardiography, or both every 1 to 2 years, depending on symptoms.
  • #54 Mixed Connective-Tissue Disease (MCTD): Practice Essentials, Pathophysiology, Etiology
    https://emedicine.medscape.com/article/1006966-overview
    Immunoglobulin G (IgG) anticardiolipin antibodies are a marker for development of pulmonary hypertension. Infections are also a major cause of death. […] MCTD has been reported in all races. The clinical manifestations of MCTD are similar among various ethnic groups; however, one study observed ethnic differences in the frequency of end-organ involvement; gastroesophageal reflux, sclerodactyly, and malar rash were significantly more common in a White group than in a group consisting of 57% Hispanics, 29% Blacks, and 14% Whites. […] MCTD is far more common in females than in males. Estimates of the female-to-male ratio vary from approximately 3:1 to 16:1. […] The onset of MCTD is typically at 15-25 years of age, but can occur at any age.
  • #55 Mixed Connective-Tissue Disease (MCTD): Practice Essentials, Pathophysiology, Etiology
    https://emedicine.medscape.com/article/1006966-overview
    Immunoglobulin G (IgG) anticardiolipin antibodies are a marker for development of pulmonary hypertension. Infections are also a major cause of death. […] MCTD has been reported in all races. The clinical manifestations of MCTD are similar among various ethnic groups; however, one study observed ethnic differences in the frequency of end-organ involvement; gastroesophageal reflux, sclerodactyly, and malar rash were significantly more common in a White group than in a group consisting of 57% Hispanics, 29% Blacks, and 14% Whites. […] MCTD is far more common in females than in males. Estimates of the female-to-male ratio vary from approximately 3:1 to 16:1. […] The onset of MCTD is typically at 15-25 years of age, but can occur at any age.
  • #56 Mixed Connective Tissue Disease | Radiology Key
    https://radiologykey.com/mixed-connective-tissue-disease/
    The incidence of MCTD is not known but is estimated to be higher than that of polymyositis, lower than that of systemic lupus erythematosus, and similar to that of systemic sclerosis. […] The prognosis for patients with MCTD is highly variable, but a severe, progressive disease course is unusual. […] In five series of MCTD (total of 194 patients), mortality was generally low (mean, 13%; range, 4%35%); nevertheless, the fact that MCTD affects young women indicates a greater risk for premature death. […] A surveillance study of a drug (bosentan) used to treat pulmonary hypertension found that connective tissue disease-related pulmonary hypertension and idiopathic pulmonary hypertension were each responsible for approximately a third of cases treated with this drug. […] In this cohort the majority of patients with connective tissue disease-associated pulmonary hypertension had systemic sclerosis (75%), and the next largest group consisted of patients with MCTD (9%).
  • #57
    https://www.ijrcog.org/index.php/ijrcog/article/view/13628
    Autoimmune connective tissue diseases (CTDs) in pregnancy present a complex interplay between maternal health and fetal outcomes. […] The risk of complications necessitates informed preconception counselling, emphasizing the importance of disease remission, close surveillance, and prompt intervention in disease relapse. […] Comprehensive care, including medications and careful planning, contributes to improved maternal and neonatal outcomes in this rare and challenging scenario.
  • #58 Pregnancy Outcomes in Mixed Connective Tissue Disease: Results from a Multicentre Cohort Study – ACR Meeting Abstracts
    https://acrabstracts.org/abstract/pregnancy-outcomes-in-mixed-connective-tissue-disease-results-from-a-multicentre-cohort-study/
    Mixed connective tissue disease (MCTD) is characterized by signs and symptoms of a combination of disorders, primarily systemic lupus erythematosus (SLE), scleroderma and polymyositis and is characterized by the presence of high titre antibodies to U1-ribonucleoprotein (RNP). […] This multicentre retrospective cohort study describes the foetal and maternal outcomes of 203 pregnancies in 94 consecutive women ever pregnant (mean age at data collection 45.1 years old, S.D. 10.9; mean disease duration at data collection 12.9 years, S.D. 8.5). […] The observed live-birth-rate was as high as 72%, with poorer foetal outcomes observed in MCTD women with antiphospholipid antibodies and pulmonary or muscular involvement. While the true frequency of heart block associated with anti-U1RNP remains to be determined, this study raises the consideration of echocardiographic surveillance in this setting. Women with MCTD should receive a specific counselling when planning a pregnancy, as it is currently done in women with SLE.
  • #59 Pregnancy Outcomes in Mixed Connective Tissue Disease: Results from a Multicentre Cohort Study – ACR Meeting Abstracts
    https://acrabstracts.org/abstract/pregnancy-outcomes-in-mixed-connective-tissue-disease-results-from-a-multicentre-cohort-study/
    Mixed connective tissue disease (MCTD) is characterized by signs and symptoms of a combination of disorders, primarily systemic lupus erythematosus (SLE), scleroderma and polymyositis and is characterized by the presence of high titre antibodies to U1-ribonucleoprotein (RNP). […] This multicentre retrospective cohort study describes the foetal and maternal outcomes of 203 pregnancies in 94 consecutive women ever pregnant (mean age at data collection 45.1 years old, S.D. 10.9; mean disease duration at data collection 12.9 years, S.D. 8.5). […] The observed live-birth-rate was as high as 72%, with poorer foetal outcomes observed in MCTD women with antiphospholipid antibodies and pulmonary or muscular involvement. While the true frequency of heart block associated with anti-U1RNP remains to be determined, this study raises the consideration of echocardiographic surveillance in this setting. Women with MCTD should receive a specific counselling when planning a pregnancy, as it is currently done in women with SLE.
  • #60 Pregnancy Outcomes in Mixed Connective Tissue Disease: Results from a Multicentre Cohort Study – ACR Meeting Abstracts
    https://acrabstracts.org/abstract/pregnancy-outcomes-in-mixed-connective-tissue-disease-results-from-a-multicentre-cohort-study/
    Mixed connective tissue disease (MCTD) is characterized by signs and symptoms of a combination of disorders, primarily systemic lupus erythematosus (SLE), scleroderma and polymyositis and is characterized by the presence of high titre antibodies to U1-ribonucleoprotein (RNP). […] This multicentre retrospective cohort study describes the foetal and maternal outcomes of 203 pregnancies in 94 consecutive women ever pregnant (mean age at data collection 45.1 years old, S.D. 10.9; mean disease duration at data collection 12.9 years, S.D. 8.5). […] The observed live-birth-rate was as high as 72%, with poorer foetal outcomes observed in MCTD women with antiphospholipid antibodies and pulmonary or muscular involvement. While the true frequency of heart block associated with anti-U1RNP remains to be determined, this study raises the consideration of echocardiographic surveillance in this setting. Women with MCTD should receive a specific counselling when planning a pregnancy, as it is currently done in women with SLE.
  • #61 Mixed Connective Tissue Disease and Undifferentiated Connective Tissue Disease | Musculoskeletal Key
    https://musculoskeletalkey.com/mixed-connective-tissue-disease-and-undifferentiated-connective-tissue-disease-2/
    MCTD is one of the least common disorders in a pediatric rheumatology clinic. It had a frequency of 0.1% in a Finnish nationwide prospective study and 0.3% in the U.S. Pediatric Rheumatology Database. Data from the British Pediatric Rheumatology Association Disease Registry and the Canadian Pediatric Rheumatology Association Disease Registry showed frequencies of 0.5% and 0.2%, respectively. The median age at onset was approximately 11 years (range: 4 to 16 years). MCTD occurred three times more frequently in girls than in boys. There was one report of this disorder occurring in siblings. […] Pulmonary disease is a major source of morbidity and mortality among adults who have MCTD. In a prospective longitudinal study, 31 of 34 adults with high titers of RNP antibody had typical MCTD in which pulmonary disease, often initially asymptomatic, was common. Pulmonary hypertension was the most frequent serious complication. One retrospective study in pediatric patients found restrictive pulmonary disease in up to 35% and abnormal carbon monoxide diffusion (DLCO) in up to 42%. This retrospective data may represent a select patient population. A cross-sectional study focusing on chest manifestations in juvenile-onset MCTD patients identified interstitial lung disease in 25% of the cohort. All but one had mild disease affecting 5% or less of the parenchyma. DLCO was abnormal in 33%. The authors concluded that the prevalence of interstitial lung disease in childhood-onset MCTD was lower than previously thought.
  • #62 Mixed Connective Tissue Disease and Undifferentiated Connective Tissue Disease | Musculoskeletal Key
    https://musculoskeletalkey.com/mixed-connective-tissue-disease-and-undifferentiated-connective-tissue-disease-2/
    MCTD is one of the least common disorders in a pediatric rheumatology clinic. It had a frequency of 0.1% in a Finnish nationwide prospective study and 0.3% in the U.S. Pediatric Rheumatology Database. Data from the British Pediatric Rheumatology Association Disease Registry and the Canadian Pediatric Rheumatology Association Disease Registry showed frequencies of 0.5% and 0.2%, respectively. The median age at onset was approximately 11 years (range: 4 to 16 years). MCTD occurred three times more frequently in girls than in boys. There was one report of this disorder occurring in siblings. […] Pulmonary disease is a major source of morbidity and mortality among adults who have MCTD. In a prospective longitudinal study, 31 of 34 adults with high titers of RNP antibody had typical MCTD in which pulmonary disease, often initially asymptomatic, was common. Pulmonary hypertension was the most frequent serious complication. One retrospective study in pediatric patients found restrictive pulmonary disease in up to 35% and abnormal carbon monoxide diffusion (DLCO) in up to 42%. This retrospective data may represent a select patient population. A cross-sectional study focusing on chest manifestations in juvenile-onset MCTD patients identified interstitial lung disease in 25% of the cohort. All but one had mild disease affecting 5% or less of the parenchyma. DLCO was abnormal in 33%. The authors concluded that the prevalence of interstitial lung disease in childhood-onset MCTD was lower than previously thought.
  • #63 Mixed Connective Tissue Disease | Symptoms, Diagnosis & Treatment
    https://www.cincinnatichildrens.org/health/m/mctd
    Mixed connective tissue disease (MCTD) is a rare disease in children. […] MCTD is three times more frequent in girls than boys. […] MCTD is a very rare disease overall and one of the least frequent rheumatic diseases occurring in children. […] The diagnosis of pediatric MCTD is made by a careful review of a person’s medical history, physical exam, lab tests (blood and urine) and imaging. […] It may take months or even years for doctors to conclude that evolving symptoms represent pediatric MCTD. […] There is no single test that can prove your child has MCTD. […] Since all people with MCTD have RNP antibodies, this is required for diagnosis. […] Pediatric MCTD can be treated. The long-term outcome depends on a child’s disease characteristics and response to medicine. […] Despite the challenges children with MCTD and their families face, most grow up to lead an active, productive life.
  • #64 Mixed Connective Tissue Disease and Undifferentiated Connective Tissue Disease | Musculoskeletal Key
    https://musculoskeletalkey.com/mixed-connective-tissue-disease-and-undifferentiated-connective-tissue-disease-2/
    MCTD is one of the least common disorders in a pediatric rheumatology clinic. It had a frequency of 0.1% in a Finnish nationwide prospective study and 0.3% in the U.S. Pediatric Rheumatology Database. Data from the British Pediatric Rheumatology Association Disease Registry and the Canadian Pediatric Rheumatology Association Disease Registry showed frequencies of 0.5% and 0.2%, respectively. The median age at onset was approximately 11 years (range: 4 to 16 years). MCTD occurred three times more frequently in girls than in boys. There was one report of this disorder occurring in siblings. […] Pulmonary disease is a major source of morbidity and mortality among adults who have MCTD. In a prospective longitudinal study, 31 of 34 adults with high titers of RNP antibody had typical MCTD in which pulmonary disease, often initially asymptomatic, was common. Pulmonary hypertension was the most frequent serious complication. One retrospective study in pediatric patients found restrictive pulmonary disease in up to 35% and abnormal carbon monoxide diffusion (DLCO) in up to 42%. This retrospective data may represent a select patient population. A cross-sectional study focusing on chest manifestations in juvenile-onset MCTD patients identified interstitial lung disease in 25% of the cohort. All but one had mild disease affecting 5% or less of the parenchyma. DLCO was abnormal in 33%. The authors concluded that the prevalence of interstitial lung disease in childhood-onset MCTD was lower than previously thought.
  • #65 Longitudinal follow-up of mixed connective tissue disease and overlapping autoimmune diseases of childhood onset in the Afro-descendant population of the French West Indies | Pediatric Rheumatology | Full Text
    https://ped-rheum.biomedcentral.com/articles/10.1186/s12969-023-00951-3
    Overlap autoimmune syndromes (OAS) and mixed connective tissue disease (MCTD) are rare in children. […] The incidence was 0.23 per 100,000 children-years. […] The epidemiology and clinical features of MCTD and OAS in populations of African ancestry have not been well described heretofore, except in small series of adults from Gabon, Senegal and Ivory Coast. […] The objectives of this study were to perform a retrospective, longitudinal and descriptive study of pediatric patients from the FWI followed-up for MCTD and OAS. […] The incidence of MCTD and OAS observed in our study was similar and consistent compared with the previous studies in Caucasian populations. […] Overall, this is the first pediatric cohort of MCTD and OAS in Afro-descendant patients treated in a country with a high standard of care with longitudinal follow-up data.
  • #66 Longitudinal follow-up of mixed connective tissue disease and overlapping autoimmune diseases of childhood onset in the Afro-descendant population of the French West Indies | Pediatric Rheumatology | Full Text
    https://ped-rheum.biomedcentral.com/articles/10.1186/s12969-023-00951-3
    Overlap autoimmune syndromes (OAS) and mixed connective tissue disease (MCTD) are rare in children. […] The incidence was 0.23 per 100,000 children-years. […] The epidemiology and clinical features of MCTD and OAS in populations of African ancestry have not been well described heretofore, except in small series of adults from Gabon, Senegal and Ivory Coast. […] The objectives of this study were to perform a retrospective, longitudinal and descriptive study of pediatric patients from the FWI followed-up for MCTD and OAS. […] The incidence of MCTD and OAS observed in our study was similar and consistent compared with the previous studies in Caucasian populations. […] Overall, this is the first pediatric cohort of MCTD and OAS in Afro-descendant patients treated in a country with a high standard of care with longitudinal follow-up data.

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zespół nakładania nadciśnienie płucne przeciwciała antyfosfolipidowe badanie czynnościowe płuc zajęcie narządowe zdolność dyfuzyjna płuc kryteria klasyfikacyjne pojemność życiowa płuc przeciwciała anty-U1-RNP śródmiąższowa choroba płuc choroba autoimmunologiczna choroba układowa tkanki łącznej zapalenie wielomięśniowe mieszana choroba tkanki łącznej przeciwciała antykardiolipinowe remisja choroby sklerodaktylia twardzina układowa reumatoidalne zapalenie stawów refluks żołądkowo-przełykowy toczeń rumieniowaty układowy echokardiografia