Amyloidoza
Objawy

Amyloidoza to złożona, wielonarządowa choroba charakteryzująca się odkładaniem patologicznie sfałdowanych białek amyloidowych w tkankach, prowadząc do ich dysfunkcji. Objawy są niespecyficzne i zależą od typu amyloidozy oraz zajętych narządów, co często opóźnia diagnozę. Wśród najczęstszych manifestacji klinicznych znajdują się zmęczenie, duszność, obrzęki, neuropatia oraz objawy kardiomiopatii amyloidowej, która może prowadzić do niewydolności serca i arytmii. W przypadku amyloidozy AL średni czas przeżycia bez leczenia wynosi mniej niż 8 miesięcy (w ciężkich przypadkach 3-6 miesięcy), natomiast dla amyloidozy ATTR od 2 do 5 lat. Zajęcie nerek manifestuje się białkomoczem, zespołem nerczycowym i może prowadzić do schyłkowej niewydolności nerek wymagającej dializoterapii. Neuropatia obwodowa i autonomiczna są powszechne, z progresją objawów sensorycznych i motorycznych, a także zaburzeń funkcji autonomicznych, co znacząco pogarsza jakość życia pacjentów.

Amyloidoza – objawy

Amyloidoza to rzadka choroba, charakteryzująca się odkładaniem nieprawidłowo sfałdowanych białek amyloidowych w tkankach i narządach organizmu. Objawy amyloidozy mogą być zróżnicowane i niespecyficzne, co często prowadzi do opóźnionej diagnozy. Symptomy zależą od rodzaju amyloidozy oraz narządów, w których dochodzi do odkładania złogów amyloidu. Często początkowe objawy są subtelne i mogą naśladować inne, bardziej powszechne schorzenia, co utrudnia wczesne rozpoznanie choroby123.

Wiele osób z amyloidozą może nie doświadczać objawów aż do zaawansowanego stadium choroby. Wczesna diagnoza i leczenie są kluczowe, ponieważ mogą spowolnić postęp choroby i zapobiec dalszemu uszkodzeniu narządów45.

Objawy ogólne

Do najczęstszych objawów ogólnych amyloidozy należą:

  • Silne zmęczenie i osłabienie12
  • Niewyjaśniona utrata masy ciała67
  • Obrzęki kończyn dolnych i kostek18
  • Łatwe siniaczenie i plamica wokół oczu (tzw. „oczy szopa” lub „oczy pandy”)19
  • Powiększony język (makroglosja)18
  • Zmiany skórne, łatwe siniaczenie110

Objawy dotyczące serca

Amyloidoza serca (kardiomiopatia amyloidowa) pojawia się, gdy złogi amyloidu odkładają się w sercu, powodując sztywnienie i pogrubienie mięśnia sercowego. Prowadzi to do ograniczonej zdolności serca do przepompowywania krwi, co może skutkować niewydolnością serca1112.

Objawy amyloidozy serca mogą obejmować:

  • Duszność, nawet podczas niewielkiego wysiłku lub w spoczynku1113
  • Zaburzenia rytmu serca (arytmie)1114
  • Obrzęki kończyn dolnych i brzucha1113
  • Uczucie zmęczenia i osłabienia1113
  • Omdlenia lub zawroty głowy, szczególnie przy zmianie pozycji915
  • Ból w klatce piersiowej14
  • Powiększone żyły szyjne11

Amyloidoza serca jest poważnym schorzeniem, które bez leczenia prowadzi do pogorszenia funkcji serca i może być śmiertelna. W przypadku amyloidozy AL średni czas przeżycia bez leczenia wynosi mniej niż osiem miesięcy, a w ciężkich przypadkach nawet 3-6 miesięcy. Dla amyloidozy ATTR, średni czas przeżycia bez leczenia wynosi od 2 do 5 lat1216.

Objawy nerkowe

Złogi amyloidu w nerkach mogą zakłócać ich zdolność do filtrowania krwi, co prowadzi do problemów z wydalaniem toksyn i białek910.

Objawy amyloidozy nerek obejmują:

  • Białkomocz (nadmiar białka w moczu)1017
  • Obrzęki kończyn dolnych i twarzy (zespół nerczycowy)1018
  • Niski poziom białka we krwi (hipoalbuminemia)19
  • Podwyższony poziom cholesterolu i innych tłuszczów we krwi2018
  • Zmniejszona ilość oddawanego moczu21
  • Nokturia (konieczność oddawania moczu w nocy)21

Około 20% pacjentów z amyloidozą AL i 40-60% pacjentów z amyloidozą AA ostatecznie rozwija schyłkową niewydolność nerek wymagającą dializoterapii22.

Objawy neurologiczne

Amyloidoza może wpływać na układ nerwowy, powodując różnorodne objawy neurologiczne101523.

Objawy neurologiczne mogą obejmować:

  • Neuropatia obwodowa: drętwienie, mrowienie i ból w dłoniach, stopach i kończynach dolnych110
  • Zespół cieśni nadgarstka, powodujący ból, drętwienie i mrowienie w dłoniach i kciuku1524
  • Neuropatia autonomiczna, prowadząca do:23
    • Hipotonii ortostatycznej (spadek ciśnienia krwi przy wstawaniu)1525
    • Zaburzeń funkcji seksualnych2627
    • Zaburzeń potliwości2627
    • Zaburzeń motoryki przewodu pokarmowego23
    • Zatrzymania moczu2327
  • Zaburzenia równowagi20
  • Osłabienie mięśniowe2126

Neuropatia w amyloidozie ma charakter postępujący. W przeciwieństwie do większości neuropatii obwodowych, neuropatia amyloidowa nieustannie postępuje. Około 2 lata po wystąpieniu objawów praktycznie wszyscy pacjenci mają osłabienie w dystalnych częściach kończyn dolnych24.

Objawy przewodu pokarmowego

Złogi amyloidu w przewodzie pokarmowym mogą prowadzić do różnych objawów trawiennych2320.

Objawy ze strony przewodu pokarmowego mogą obejmować:

  • Biegunka lub zaparcia, często na przemian110
  • Nudności i wymioty2720
  • Utrata apetytu i niezamierzona utrata masy ciała927
  • Uczucie pełności po spożyciu niewielkiej ilości pokarmu621
  • Ból brzucha2028
  • Krwawienie z przewodu pokarmowego2329
  • Zaburzenia połykania2930
  • Powiększenie języka (makroglosja)231

Amyloidoza może wpływać na cały przewód pokarmowy, od przełyku po odbytnicę, prowadząc do zaburzeń motoryki, wchłaniania i krwawień23.

Objawy wątrobowe

Odkładanie się złogów amyloidu w wątrobie może prowadzić do jej powiększenia i zaburzenia funkcji19.

Objawy amyloidozy wątroby mogą obejmować:

  • Powiększenie wątroby (hepatomegalia), czasem znaczne1931
  • Podwyższenie poziomu fosfatazy alkalicznej i bilirubiny, sugerujące cholestazę wewnątrzwątrobową19
  • Ból i dyskomfort w górnej części brzucha2832
  • Nadciśnienie wrotne, prowadzące do żylaków przełyku i wodobrzusza (w zaawansowanych przypadkach)19
  • Powiększenie śledziony (splenomegalia) – występuje u mniej niż 10% pacjentów31

Objawy płucne

Amyloidoza płucna może mieć różne manifestacje i wpływać na drogi oddechowe, miąższ płuc oraz opłucną33.

Objawy amyloidozy płucnej mogą obejmować:

  • Duszność111
  • Chrypka2329
  • Świszczący oddech2334
  • Krwioplucie2334
  • Obturacja dróg oddechowych2334
  • Wysięk opłucnowy33
  • Nawracające infekcje dróg oddechowych34

Objawy skórne i tkanek miękkich

Amyloidoza może prowadzić do zmian w skórze i tkankach miękkich35.

Objawy skórne i tkanek miękkich mogą obejmować:

  • Łatwe siniaczenie19
  • Plamica wokół oczu (tzw. „oczy szopa” lub „oczy pandy”)133
  • Zmiany w wyglądzie paznokci910
  • Zespół cieśni nadgarstka1526
  • Zgrubienie skóry1
  • Powiększenie języka (makroglosja)18
  • Zmiany w wyglądzie twarzy z powodu odkładania się amyloidu w tkankach miękkich35
  • Wypadanie włosów10

Progresja amyloidozy

Amyloidoza jest chorobą postępującą, co oznacza, że wraz z upływem czasu objawy zwykle się nasilają. Tempo progresji może być różne w zależności od typu amyloidozy i zajętych narządów536.

Etapy progresji

Lekarze określają stadium (zaawansowanie) amyloidozy na podstawie biomarkerów oraz zajęcia narządów. Wyższy poziom biomarkerów wskazuje na późniejsze stadium amyloidozy i większą ciężkość choroby37.

W przypadku amyloidozy AL, wyróżnia się cztery stadia:

  • Stadium 1: wszystkie biomarkery są w normie, średnie przeżycie wynosi 7,8 lat po diagnozie37
  • Stadium 2: jeden biomarker powyżej normy, średnie przeżycie wynosi 3,4 roku po diagnozie37
  • Stadium 3: dwa biomarkery powyżej normy, średnie przeżycie wynosi 14 miesięcy po diagnozie38
  • Stadium 4: wszystkie trzy biomarkery powyżej normy, średnie przeżycie wynosi 5,8 miesiąca po diagnozie38

Bez leczenia amyloidoza AL z zajęciem serca może być śmiertelna w ciągu 6 miesięcy, a amyloidoza ATTR w ciągu 2,5-3,5 roku3940.

Progresja amyloidozy serca

Amyloidoza serca często postępuje szybko36. W miarę gromadzenia się amyloidu w sercu, ściany serca stają się grubsze i sztywniejsze, co utrudnia prawidłowe funkcjonowanie serca12.

Progresja amyloidozy serca może prowadzić do:

  • Niewydolności rozkurczowej serca36
  • Niewydolności skurczowej serca36
  • Zaburzeń rytmu serca (arytmii)36
  • Zaburzeń przewodzenia36
  • Incydentów zatorowych36
  • Nagłej śmierci sercowej36

Progresja amyloidozy nerek

Amyloidoza nerek zwykle rozpoczyna się od obecności białka w moczu (białkomoczu)17. Z czasem białkomocz może stać się nasilony, prowadząc do zespołu nerczycowego17.

Progresja amyloidozy nerek może skutkować:

  • Znaczną utratą białka w moczu17
  • Niskim poziomem białka (albuminy) we krwi17
  • Obrzękami kończyn dolnych i kostek17
  • Postępującą niewydolnością nerek41
  • Koniecznością dializoterapii22

Wczesne wykrycie i leczenie podstawowej choroby zapalnej może spowolnić lub zatrzymać postęp amyloidozy AA41.

Progresja neuropatii

W miarę postępu amyloidozy, białka amyloidowe zaczynają wpływać na większe nerwy, co prowadzi do objawów takich jak drętwienie i osłabienie mięśni36.

Neuropatia w amyloidozie zwykle przebiega według pewnego wzorca:

  • Początkowe objawy obejmują ból neuropatyczny, drętwienie i mrowienie w stopach24
  • Objawy postępują w sposób zależny od długości nerwów (dystalne części kończyn są dotknięte najpierw)24
  • Po około 2 latach od wystąpienia objawów, prawie wszyscy pacjenci mają osłabienie w dystalnych częściach kończyn dolnych24
  • Neuropatia autonomiczna występuje u nawet 75% pacjentów z neuropatią obwodową w amyloidozie AL i 82% w amyloidozie ATTRv42

Neuropatia czuciowo-ruchowa w amyloidozie dziedzicznej typu ATTR może postępować ponad 10 razy szybciej niż neuropatia cukrzycowa43.

Czynniki wpływające na progresję

Na tempo progresji amyloidozy wpływa wiele czynników5:

  • Typ amyloidozy – amyloidoza AL zwykle rozwija się szybciej niż amyloidoza ATTR944
  • Zajęte narządy – zajęcie serca jest najpoważniejszym czynnikiem prognostycznym8
  • Wiek pacjenta – starszy wiek jest związany z gorszym rokowaniem38
  • Poziom białka amyloidowego we krwi38
  • Funkcja nerek – oznaki nieprawidłowego funkcjonowania nerek wskazują na gorsze rokowanie38
  • Czas do diagnozy – wczesne rozpoznanie i leczenie mogą poprawić rokowanie1644

Skutki nieleczonej amyloidozy

Nieleczona amyloidoza prowadzi do postępującego uszkodzenia narządów i ostatecznie do ich niewydolności3. Komplikacje mogą obejmować:

  • Niewydolność serca – główna przyczyna śmierci w amyloidozie815
  • Niewydolność nerek1518
  • Ciężkie zaburzenia rytmu serca36
  • Postępujące uszkodzenie nerwów36
  • Powikłania przewodu pokarmowego, w tym krwawienia31
  • Zaburzenia czynności wątroby45

Rozpoznawanie amyloidozy

Amyloidoza jest często trudna do zdiagnozowania, ponieważ jej objawy mogą naśladować inne, bardziej powszechne schorzenia12. Dodatkowo, objawy mogą być niespecyficzne, a choroba może rozwijać się przez dłuższy czas, zanim wystąpią wyraźne symptomy3.

Według badań, ponad jedna trzecia pacjentów zgłasza objawy przez rok lub dłużej, a około połowa konsultuje się z czterema lub więcej lekarzami, zanim zostanie postawiona formalna diagnoza amyloidozy AL46.

Średni czas od wystąpienia najwcześniejszego objawu do diagnozy amyloidozy AL wynosi od 3,2 do 21,4 miesięcy447. Ten opóźniony proces diagnostyczny prowadzi do tego, że wielu pacjentów jest diagnozowanych z zaawansowanym zajęciem narządów, co często wiąże się z gorszym rokowaniem46.

Najczęstsze objawy poprzedzające diagnozę amyloidozy AL to:447

  • Duszność (55,3%)
  • Zmęczenie (44,7%)
  • Neuropatia (39,9%)
  • Przewlekła choroba nerek (37,5%)
  • Zaburzenia pracy jelit (37,0%)
  • Obrzęki (36,5%)
  • Niewydolność serca (36,3%)

Zmęczenie jest najczęstszym objawem choroby, zgłaszanym przez 80% pacjentów z amyloidozą AL48.

Znaczenie wczesnej diagnozy

Wczesna diagnoza i leczenie amyloidozy są kluczowe dla poprawy rokowania i zapobiegania dalszemu uszkodzeniu narządów316.

Korzyści z wczesnej diagnozy obejmują:

  • Możliwość spowolnienia lub zatrzymania postępu choroby32
  • Zapobieganie nieodwracalnemu uszkodzeniu narządów49
  • Lepsze rokowanie i dłuższe przeżycie50
  • Większe szanse na kwalifikację do przeszczepu komórek macierzystych (w przypadku amyloidozy AL)49
  • Skuteczniejsze leczenie objawowe44

Obecnie istnieją skuteczne metody leczenia amyloidozy, które mogą spowolnić postęp choroby, złagodzić objawy i wydłużyć życie pacjentów51. Wczesne rozpoczęcie leczenia zwiększa prawdopodobieństwo sukcesu terapeutycznego51.

W przypadku amyloidozy serca ATTR, nowe leki jak tafamidis mogą spowolnić progresję choroby, zmniejszyć objawy niewydolności serca, zwiększyć zdolność wykonywania wysiłku fizycznego i zmniejszyć częstość hospitalizacji, gdy są rozpoczęte wkrótce po diagnozie52.

Typ amyloidozy Główne objawy Typowa progresja Średni czas przeżycia bez leczenia
AL (łańcuchów lekkich) Zmęczenie, duszność, obrzęki, utrata masy ciała, powiększony język, neuropatia, plamica wokół oczu Szybka, wielonarządowa <8 miesięcy, w ciężkich przypadkach 3-6 miesięcy
ATTR (transtyretynowa) dziedziczna Neuropatia, kardiomiopatia, zespół cieśni nadgarstka, zaburzenia autonomiczne Wolniejsza niż AL, ale postępująca 2-3 lata
ATTR (transtyretynowa) dzika Głównie kardiomiopatia, zespół cieśni nadgarstka, stenoza kręgosłupa Wolna, ale postępująca 2-5 lat
AA (wtórna) Głównie objawy nerkowe, białkomocz, obrzęki, powiększenie wątroby i śledziony Zależna od aktywności choroby podstawowej Średnio 11 lat

Podsumowanie

Amyloidoza to rzadka, ale poważna choroba, która może dotknąć wielu różnych narządów i tkanek. Jej objawy są często niespecyficzne i mogą naśladować inne, bardziej powszechne schorzenia, co sprawia, że diagnoza jest często opóźniona. Najczęstsze objawy to zmęczenie, duszność, obrzęki, neuropatia i zaburzenia pracy serca447.

Choroba ma charakter postępujący, a tempo progresji zależy od typu amyloidozy i zajętych narządów. Bez leczenia amyloidoza może prowadzić do niewydolności narządów i śmierci123.

Wczesna diagnoza i leczenie są kluczowe dla poprawy rokowania i zapobiegania nieodwracalnemu uszkodzeniu narządów5049. Obecnie dostępne są skuteczne metody leczenia, które mogą spowolnić postęp choroby, złagodzić objawy i poprawić jakość życia pacjentów5144.

Jeśli doświadczasz któregokolwiek z objawów amyloidozy, szczególnie jeśli masz obciążony wywiad rodzinny, ważne jest, aby skonsultować się z lekarzem. Wczesne rozpoznanie i leczenie mogą znacząco wpłynąć na przebieg choroby i rokowanie350.

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  1. 11.04.2026
  2. www.leksykon.com.pl

Materiały źródłowe

  • #1 Amyloidosis – Symptoms and causes – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/amyloidosis/symptoms-causes/syc-20353178
    Purpura around the eyes, a sign of amyloidosis. Some people with amyloidosis experience purpura a condition in which small blood vessels leak blood into the skin. This most commonly occurs around the eyes but can also affect other parts of the body. […] An enlarged tongue (macroglossia) can be a sign of amyloidosis. It can sometimes also appear rippled along its edge. […] You may not experience symptoms of amyloidosis until later in the course of the disease. Symptoms may vary, depending on which organs are affected. […] Signs and symptoms of amyloidosis may include: Severe fatigue and weakness, Shortness of breath, Numbness, tingling, or pain in the hands or feet, Swelling of the ankles and legs, Diarrhea, possibly with blood, or constipation, An enlarged tongue, which sometimes looks rippled around its edge, Skin changes, such as thickening or easy bruising, and purplish patches around the eyes. […] See your health care provider if you regularly experience any of the signs or symptoms associated with amyloidosis.
  • #2 Amyloidosis: Symptoms, Types & Treatments
    https://my.clevelandclinic.org/health/diseases/23398-amyloidosis
    Amyloidosis symptoms vary based on the specific protein type and where the fibrils land. For example, cardiac amyloidosis symptoms include weakness or shortness of breath, fainting (a sign of abnormal heart rhythms) or leg swelling with heart failure. Renal (kidney) amyloidosis symptoms may include swollen feet and legs or bubbles in your pee. […] General symptoms of amyloidosis may include: Excessive fatigue, Unexplained weight loss, General weakness or weak grip, Numbness in your hands, Skin changes, including easy bruising and purple circles around your eyes (purpura). […] Your healthcare provider can treat symptoms, slow the diseases progress and, in some cases, they can help reverse amyloidosis. Still, some amyloidosis types may cause life-threatening organ damage without treatment. This is why early diagnosis and prompt treatment are so important.
  • #3 What is amyloidosis and 10 signs you might have it – Mayo Clinic News Network
    https://newsnetwork.mayoclinic.org/discussion/what-is-amyloidosis-and-10-signs-you-might-have-it/
    Amyloidosis frequently affects the heart, kidneys, liver, spleen, nervous system and digestive tract. It is often overlooked because it may cause no symptoms at first. And when there are signs or symptoms, they can look like those of more-common diseases. […] There’s no cure for amyloidosis and severe amyloidosis can lead to life-threatening organ failure. But treatments can help you manage your symptoms and limit the production of amyloid protein. […] Diagnosis as early as possible can help prevent further organ damage caused by the protein buildup. So, it’s important to talk with your health care provider if you’re experiencing any of these 10 possible signs and symptoms. […] Many of these signs and symptoms may be caused by other conditions. But if you experience any of them, talk with your health care provider about whether they might be caused by amyloidosis. And if you have a family history of the condition, be sure to tell your health care provider. Come to your appointment ready to discuss your symptoms and when they happen.
  • #4 Timing and co-occurrence of symptoms prior to a diagnosis of light chain (AL) amyloidosis
    https://pmc.ncbi.nlm.nih.gov/articles/PMC10802702/
    It is well-established that light chain (AL) amyloidosis patients have multi-organ involvement and are often diagnosed after a lag period of increasing symptoms. […] The median number of precursor diagnoses was 5 with dyspnea and fatigue being the most prevalent. […] The most prevalent precursor diagnoses observed as a diagnostic code at AL amyloidosis diagnosis were as follows; dyspnea (55.3%), fatigue (44.7%), neuropathy (39.9%), chronic kidney disease (37.5%), altered bowels (37.0%), edema (36.5%), and heart failure (36.3%). […] The median time to AL amyloidosis diagnosis from the earliest precursor condition ranged from 3.2 to 21.4 months. […] Our prior work suggests that AL amyloidosis patients have a high prevalence of precursor diagnoses. […] The most common precursor diagnoses include dyspnea, fatigue, heart failure, edema, altered bowels, neuropathy, and chronic kidney disease.
  • #5 Staging and Progression of AL Amyloidosis | MyAmyloidosisTeam
    https://www.myamyloidosisteam.com/resources/staging-and-progression-of-al-amyloidosis
    The signs and symptoms of amyloid light-chain (AL) amyloidosis often grow worse over time. […] AL amyloidosis symptoms may become increasingly serious as the disease progresses, or gets worse. […] The more these amyloid proteins accumulate, the more they can impair organ function and cause severe symptoms. […] If your AL amyloidosis begins causing new problems, your doctor may recommend you change your treatment plan. […] Different cases of AL amyloidosis can progress at different rates. For many people, amyloidosis gets worse quickly. […] AL amyloidosis most often affects the kidneys and the heart, and it causes these organs to progressively become more damaged. […] Eventually, affected organs can completely shut down. […] Understanding signs of amyloidosis progression can clarify why you experience certain symptoms or why your doctor recommends specific tests.
  • #6 AL Amyloidosis | Amyloidosis Foundation
    https://amyloidosis.org/facts/al
    AL amyloidosis is caused by a bone marrow disorder. These misfolded amyloid proteins are deposited in and around tissues, nerves and organs. As the amyloid builds up in an organ, nerve or tissue, it gradually causes damage and affects their function. Each amyloidosis patient has a different pattern of amyloid deposition in their body. It often affects more than one organ. Symptoms of AL amyloidosis vary by patient. Initially, the symptoms can be minor or similar to those of many other conditions or systemic diseases. Fatigue, weight loss and swelling are the most common symptoms. Impairment of many organs, nerves and soft tissues can cause symptoms, among them the kidneys, heart, the GI tract (the digestive system) and the nervous system. Chronic kidney disease is common in patients with AL amyloidosis. Amyloid deposits in the kidneys can affect how they filter toxins and proteins in the blood. This may result in a condition called nephrotic syndrome, where there is excess protein in the urine and the lower legs can become swollen (also called edema). Amyloid deposits in the heart can cause it to become unusually thickened and stiff, making it unable to function efficiently. This results in shortness of breath, which may occur with only minor activity. Amyloid deposits in the digestive system can cause nausea, diarrhea or constipation, weight loss, loss of appetite, or a feeling of fullness in the stomach after eating small amounts. Amyloid deposits can affect the nerves of the hands, feet and lower legs and may cause pain, numbness and tingling. A loss of sensitivity to temperature may also occur. This is called peripheral neuropathy. There are other symptoms that are common and may have been present for some time before diagnosis, such as chronic fatigue and weakness. Some patients with AL amyloidosis experience purpura, which is bruising around the eyes or other skin areas. Swelling may develop and cause symptoms as a result of the amyloid deposits. For example, patients may have carpal tunnel syndrome, where amyloid deposits in the wrist area can squeeze and irritate the nerve, causing tingling and numbness in the fingers and thumb. One significant, but less common, symptom is that some patients can develop bleeding or clotting problems.
  • #7 Amyloidosis – Leukaemia Foundation
    https://www.leukaemia.org.au/blood-cancer/types-of-blood-cancer/amyloidosis/
    Amyloidosis is the general term given to a relatively rare and serious group of disorders in which an abnormal protein known as amyloid is produced. […] Without treatment this may eventually lead to organ damage and failure. […] Symptoms of amyloidosis depend on which tissues and organs are affected and to what degree. Symptoms vary greatly from patient to patient and between the different types of amyloidosis. […] The most common symptoms are: fatigue/tiredness, unexplained weight loss, swelling of the ankles and legs due to fluid accumulation. […] Other symptoms vary depending on the organ or tissues most affected and may include: shortness of breath, loss of appetite, enlarged tongue, unexplained bruising around the eyes, numbness or tingling in the hands and feet, lumps in the soft tissue. […] Due to the rarity of the disease and vagueness of symptoms, diagnosis may be difficult or delayed.
  • #8 Amyloidosis | Stanford Health Care
    https://stanfordhealthcare.org/medical-conditions/blood-heart-circulation/amyloidosis.html
    Amyloid deposits may develop in one or more parts of the body, such as: […] Common signs and symptoms of amyloid involvement in the heart include: […] Heart complications are the most common cause of death in patients with amyloidosis. The degree to which amyloidosis affects the heart is important in determining your prognosis. […] Amyloid deposits commonly lead to protein loss in the urine and, in some cases, can lead to kidney failure. […] Edema, or fluid retention, is a sign that your kidneys may be failing. Your ankles and/or legs may swell up as a result. […] Amyloid deposits in the nerves lead to numbness, tingling, pain or, less commonly, weakness. In addition, amyloid deposits in the nerves may contribute to low blood pressure. […] The gastrointestinal tract is a frequent site of amyloid deposits. Amyloid deposits can form in the tongue and cause it to enlarge, known as macroglossia.
  • #9
    https://www.emea.jnjwithme.com/en/blood-cancer/amyloidosis/symptoms-of-al-amyloidosis
    AL amyloidosis is not easily recognisable as the symptoms often mimic other conditions, making it difficult to diagnose. […] Symptoms will depend on which organs are affected by the amyloid deposits and the degree that organ function is impaired. […] Common symptoms include fatigue, weakness, loss of appetite and weight loss, bruising around the eyes or other skin areas, nail changes and fluid retention that causes swelling (oedema). […] Amyloid deposits in the heart can cause muscles to become unusually thickened and stiff, making it harder to pump blood around the body. […] This results in shortness of breath occurring during low intensity activity, as well as dizziness or fainting. […] Amyloid deposits in the kidneys can affect how they filter toxins and proteins in the blood.
  • #10
    https://www.emea.jnjwithme.com/en/blood-cancer/amyloidosis/symptoms-of-al-amyloidosis
    This may result in a condition called nephrotic syndrome, where there is excess protein in the urine causing the lower legs to become swollen (oedema). […] Amyloid deposits can affect the nerves in a patient’s hands, feet or lower legs resulting in pain, numbness and/or tingling. […] Symptoms that are more likely to be experienced in a person who has AL amyloidosis include: Shortness of breath, Swelling of the lower extremities, Swelling of the salivary glands, Skin changes, such as bruising around the eyes, Unexplained severe fatigue or weakness, Weight loss, Nail changes, Hair loss, Numbness, burning, tingling or pain in your hands or feet, Diarrhoea, possibly with blood, or constipation, Enlarged tongue, Irregular heartbeat (arrhythmia). […] Amyloid proteins can continue to build up in parts of the body, such as the heart, kidneys, spleen, liver, nerves or digestive system.
  • #11 Cardiac Amyloidosis: Causes, Symptoms and Treatment
    https://my.clevelandclinic.org/health/diseases/22598-cardiac-amyloidosis
    Cardiac amyloidosis is a condition where faulty proteins build up in your heart. As faulty proteins accumulate, your heart struggles to pump, ultimately leading to heart failure and death. However, this condition is usually treatable and in some cases is curable. […] Cardiac amyloidosis is a heart condition where misshapen proteins get stuck in and around different parts of your heart. As these proteins build up, your heart struggles to pump blood so it tries to pump harder. Ultimately, the extra effort weakens and damages your heart, causing it to fail. […] Symptoms of cardiac amyloidosis typically involve your heart, plus other vital organs like your liver and kidneys. In the end stages of cardiac amyloidosis, the severe symptoms of heart failure are likely. […] Possible symptoms include, but aren’t limited to, the following: Shortness of breath. This can happen when you’re active or lying down. Swelling from fluid accumulation. This usually affects your feet, ankles, legs and abdomen. Fatigue. This is feeling very tired or exhausted for an extended period, usually days or more. Heart palpitations. This is the unpleasant ability to feel your heartbeat without trying. Enlarged neck veins. These happen with heart failure because your heart is struggling to pump hard enough. The extra effort puts too much pressure on the veins in your neck, causing them to get bigger. Swollen liver (hepatomegaly). This also happens with heart failure, and for the same reason as enlargement in your neck veins. The extra pressure from your heart puts too much pressure on the blood vessels in your liver, making that organ swell up. Kidney problems. This includes inflammation in your kidneys or changes in how effectively your kidneys are operating.
  • #12 Cardiac Amyloidosis: Causes, Symptoms and Treatment
    https://my.clevelandclinic.org/health/diseases/22598-cardiac-amyloidosis
    Cardiac amyloidosis is a disease that changes the structure of your heart and interferes with the heart’s ability to pump. It does that in the following ways: Thickening of heart walls. As amyloid proteins build up in your heart muscle, the walls of your heart thicken and your heart enlarges. As that happens, your heart has to work harder to pump enough blood through your body. Your heart’s extra effort ultimately leads to heart failure. […] Cardiac amyloidosis is a condition that gets progressively worse, with heart failure symptoms that become more and more severe. Ultimately, this condition causes your heart to weaken to the point where you can’t survive. If it isn’t treated, the outlook is especially bad. […] Without treatment, the typical survival time with AL amyloidosis is less than eight months. For those with especially severe cases, it’s three to six months. With ATTR amyloidosis, the typical survival time without treatment is two to five years. People with untreated familial ATTR amyloidosis tend to do worse, with an average survival time of two to three years.
  • #13 Cardiac Amyloidosis > Fact Sheets > Yale Medicine
    https://www.yalemedicine.org/conditions/cardiac-amyloidosis
    Symptoms include fatigue, weakness, shortness of breath, dizziness, swelling of abdomen and legs […] Fatigue, shortness of breath, and leg swelling are symptoms you should always pay attention to, as they may be signs of a heart issue, such as heart failure. These symptoms can also be caused by cardiac amyloidosis, a disease caused by the buildup of clumps of abnormally folded protein in the heart muscle. […] Cardiac amyloidosis can cause heart failure symptoms, such as shortness of breath and leg swelling, and irregular heartbeat (arrhythmia) and it can lead to reduced life expectancy. […] Cardiac amyloidosis can cause a range of symptoms including: Fatigue, Shortness of breath during exercise or other physical activities, Shortness of breath while lying down, Feeling faint or light-headed, Swelling in the legs, Abdominal distension or „swelling”.
  • #14 Cardiac Amyloidosis Symptoms and Treatment | Froedtert & MCW
    https://www.froedtert.com/cardiac-amyloidosis
    Common symptoms of cardiac amyloidosis can include: […] Abnormal heart rhythm (arrhythmia, such as atrial fibrillation or AFib) […] Chest pain […] Fatigue […] Shortness of breath. […] While there is no cure for cardiac amyloidosis, we can successfully delay or stop the progression of the disease. […] Average life expectancy varies based on the type of cardiac amyloid (protein), how much the organs are involved and the stage at diagnosis. Based on these factors, the worst case scenario could be six months, while in some cases, life expectancy can be eight to 10 years after diagnosis. […] Cardiac amyloidosis is treated based on the type of protein that is making up the amyloid fibrils. AL amyloidosis is commonly treated with chemotherapy. ATTR amyloidosis can be treated with agents designed to stabilize the TTR protein or decrease production of the protein.
  • #15
    https://www.emea.jnjwithme.com/en/blood-cancer/amyloidosis/symptoms-of-al-amyloidosis
    If this happens you may experience some of the following symptoms: Feeling lightheaded or fainting, particularly after standing or sitting up, Numbness or a tingling feeling in the hands and feet, which may feel a bit like pins and needles (peripheral neuropathy), Numbness, tingling and pain in the wrist, hand and fingers (carpal tunnel syndrome), Nausea, diarrhoea or constipation, Easy bruising, Swelling, Kidney failure, Heart impairment (the leading cause of death from the condition).
  • #16 Cardiac Amyloidosis: Causes, Symptoms and Treatment
    https://my.clevelandclinic.org/health/diseases/22598-cardiac-amyloidosis
    The prognosis for cardiac amyloidosis strongly depends on two factors: What type of amyloidosis you have and the severity of your case. That’s why early detection can make a big difference. People who undergo successful transplants of their heart, kidneys or liver typically do better, but the majority of people who need a transplant either aren’t eligible or have to wait a very long time to receive one.
  • #17 AA Amyloidosis | Amyloidosis Foundation
    https://www.amyloidosis.org/facts/aa
    The first symptom of AA amyloidosis is usually protein in the urine. Often proteinuria (protein in the urine) becomes massive, and nephrotic syndrome develops. This means that patients are losing so much protein in their urine that they develop low levels of protein (albumin) in their blood, leading to swelling of the ankles and legs (edema). […] AA amyloidosis involves other organs in addition to the kidneys. An enlarged spleen, enlarged liver, and enlarged thyroid are not uncommon. Autonomic neuropathy is frequent with symptoms of orthostatic hypotension (low blood pressure on standing), gastrointestinal atony (slowing of stomach emptying) and diarrhea or constipation. AA amyloid deposits in the heart causing congestive heart failure and arrhythmias (irregular heart beat) may develop later in the course of the disease.
  • #18 Amyloidosis & Kidney Disease – NIDDK
    https://www.niddk.nih.gov/health-information/kidney-disease/amyloidosis
    Amyloidosis can affect different organs and tissues in different people, and it can affect more than one organ at the same time. The symptoms and severity of amyloidosis depend on which organs and tissues are affected. Amyloidosis most frequently affects the kidneys, heart, nervous system, liver, and gastrointestinal tract. […] When amyloidosis affects your kidneys, the most common symptom is nephrotic syndromea group of symptoms that indicate kidney damage. These symptoms include too much protein in your urine, low levels of protein in your blood, swelling in parts of your body, high levels of cholesterol and other fats in your blood. […] Other signs and symptoms of amyloidosis may include anemia, fatigue or tiredness, inflammation in the hands or numbness, tingling, or burning sensation in the hands or feet, low blood pressure, shortness of breath, weight loss. […] Amyloid that builds up in the kidneys can damage the kidneys and affect the kidneys ability to filter blood. This damage can cause wastes to build up in your body, which may worsen kidney damage and lead to kidney failure.
  • #19 Amyloidosis – Endocrine and Metabolic Disorders – Merck Manual Professional Edition
    https://www.merckmanuals.com/professional/endocrine-and-metabolic-disorders/amyloidosis/amyloidosis
    Symptoms and signs of systemic amyloidosis are nonspecific, often resulting in delays in diagnosis. Suspicion of amyloidosis should be increased in patients with a progressive multisystem disease process. […] Renal amyloid deposits typically occur in the glomerular membrane leading to proteinuria, but in approximately 15% of cases the tubules are affected, causing azotemia with minimal proteinuria. These processes can progress to nephrotic syndrome with marked hypoalbuminemia, edema, and anasarca or to end-stage kidney disease. […] Hepatic involvement causes painless hepatomegaly, which may be massive. Liver tests typically suggest intrahepatic cholestasis with elevation of alkaline phosphatase and later bilirubin, although jaundice is rare. Occasionally, portal hypertension develops, with resulting esophageal varices and ascites.
  • #20 Amyloidosis: Causes, Types, Symptoms, Diagnosis, Treatment, and Prognosis
    https://www.webmd.com/cancer/lymphoma/amyloidosis-symptoms-causes-treatments
    Your kidneys filter waste and toxins from your blood. Amyloid deposits in the kidneys make it hard for them to do this job. When your kidneys do not work properly, water and dangerous toxins build up in your body. If amyloidosis affects the kidneys, you may have: Signs of kidney failure, including swelling of the feet and ankles and puffiness around the eyes, High levels of protein in your urine, High fat and cholesterol levels in your blood. […] Amyloid deposits along your gastrointestinal (GI) tract slow down the movement of food through your intestines. This interferes with digestion. If amyloidosis affects your GI tract, you may have: Less appetite, Diarrhea, Nausea, Stomach pain, Weight loss. […] Amyloid deposits can damage the nerves outside your brain and spinal cord, called the peripheral nerves. The peripheral nerves carry information from your brain and spinal cord to the rest of your body. For example, they make your brain perceive pain if you burn your hand or stub your toes. If amyloidosis affects your nerves, you may have: Balance problems, Problems controlling your bladder and bowel, Sweating problems, Tingling and weakness, Lightheadedness when standing due to a problem with your body’s ability to control blood pressure, Nausea or vomit. […] Amyloidosis can be deadly, especially if it affects your heart or kidneys. Early diagnosis and treatment are important and can help improve survival.
  • #21 Symptoms of AL amyloidosis – Myeloma Patients Europe
    https://www.mpeurope.org/myeloma-and-al-amyloidosis/about-al-amyloidosis/symptoms-of-al-amyloidosis/
    Constipation or diarrhoea: Stools may become loose or bowel movements may decrease. […] Muscle weakness: Muscle weakness is especially common in the legs. […] Enlarged liver (hepatomegaly): This means that the liver is swollen to a larger size than usual. […] Excessive bubbles in the urine: Your urine may become foamy, which can be a sign of protein in the urine; this can indicate kidney abnormalities. […] Decreased urination: You may urinate less than normal. […] Nocturia: You may feel the need to get up at night to urinate. […] Brittle nails: Fingernails and toenails may become weaker and break more easily. […] Oedema: Your feet or legs may become visibly swollen. […] Bruising or bleeding easily. […] Purple colour in skin folds. […] Periorbital purpura: The eyelids and/or around the eyes may become purple in colour. […] Macroglossia: Your tongue can become enlarged, if the disease affects the oral tissues. […] Painfull joints.
  • #21 Symptoms of AL amyloidosis – Myeloma Patients Europe
    https://www.mpeurope.org/myeloma-and-al-amyloidosis/about-al-amyloidosis/symptoms-of-al-amyloidosis/
    Shortness of breath: You may experience a tight sensation in the chest and feel the need to breathe more or quicker than usual, especially at exercise such as climbing stairs. […] Palpitations (arrhythmias): Palpitations are feelings or sensations that the heart is racing or pounding. You may experience an unpleasant awareness of your own heartbeat or may feel like your heart skips some beats. You may feel a pounding sensation in the chest, throat, or neck. […] Fatigue: You may tire easily, even from day-to-day activities that normally would not tire you out. […] Light-headedness: You may feel dizzy or have the feeling that you might faint, especially when standing up. […] Poor appetite: You might experience a loss of appetite and struggle to consume enough food. […] Bloating or excessive gas: Symptoms of this include frequent burping and passing of gas, abdominal pain, pressure, or cramps. A feeling of fullness and a visible increase in the size of the abdomen can also be experienced.
  • #22 Amyloidosis – Wikipedia
    https://en.wikipedia.org/wiki/Amyloidosis
    Amyloidosis symptoms are often vague and require different physician specialists for diagnosis. Telltale symptoms may include an enlarged tongue (macroglossia) or bruising around the eyes (purpura) […] Symptoms include fatigue, peripheral edema, weight loss, shortness of breath, palpitations, and feeling faint with standing. […] In AL amyloidosis, specific indicators can include enlargement of the tongue and periorbital purpura. […] Approximately 20% and 40-60% of people with AL and AA amyloidosis respectively progress to end-stage kidney disease requiring dialysis. […] Cardiac amyloidosis can present with symptoms of heart failure including shortness of breath, fatigue, and edema. […] As cardiac amyloidosis progresses, the amyloid deposition can affect the heart’s ability to pump and fill blood as well as its ability to maintain normal rhythm, which leads to worsening heart function and decline in people’s quality of life.
  • #23 Amyloidosis – Endocrine and Metabolic Disorders – Merck Manual Professional Edition
    https://www.merckmanuals.com/professional/endocrine-and-metabolic-disorders/amyloidosis/amyloidosis
    Airway and laryngeal involvement leads to dyspnea, hoarseness, wheezing, hemoptysis, or airway obstruction. […] Infiltration of the myocardium causes a restrictive cardiomyopathy, eventually leading to diastolic dysfunction and heart failure; heart block or arrhythmia may occur. Hypotension is common. […] Peripheral neuropathy with paresthesias of the toes and fingers is a common presenting manifestation in AL and ATTRv amyloidoses. Autonomic neuropathy may cause orthostatic hypotension, erectile dysfunction, sweating abnormalities, urinary retention, and gastrointestinal motility disturbances. […] Cerebrovascular amyloid angiopathy most often causes spontaneous cerebral hemorrhage, but some patients have brief, transient neurologic symptoms. […] Gastrointestinal amyloid may cause motility abnormalities of the esophagus and small and large intestines. Gastric atony, malabsorption, bleeding, or pseudo-obstruction may also occur. Macroglossia is common in AL amyloidosis.
  • #24 Neuromuscular Amyloidosis
    https://practicalneurology.com/articles/2021-july-aug/neuromuscular-amyloidosis
    Amyloidosis is a rare group of disorders caused by misfolding and extracellular deposition of proteins as amyloid fibrils. These amyloid deposits are resistant to cleavage and clearance processes and lead to tissue damage and dysfunction. Symptoms depend on which organs have the amyloid deposits, with a wide variety of symptoms and heterogeneous presentations, making diagnosis often a challenge. […] Peripheral neuropathy occurs in 15% to 35% of people with AL amyloidosis, whereas myopathy is seen in only 1.5% of cases. Other organs, including the heart (75%), kidneys (57%), and gastrointestinal tract (17%) are affected. […] Symptoms usually begin with neuropathic pain, numbness, and tingling in the feet and progress to decreased sensation and weakness in a length-dependent fashion. Unlike most peripheral neuropathies, amyloid neuropathy relentlessly progresses. Approximately 2 years after symptom onset, essentially all patients have weakness in the distal lower extremities on examination.
  • #25 Amyloidosis | Better Health Channel
    https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/amyloidosis
    The symptoms of amyloidosis vary widely, depending on which tissues and organs are affected. […] In some cases, amyloidosis has no symptoms until extensive tissue damage has occurred. […] Some of the symptoms may include: ankle and leg swelling (oedema), muscular weakness, unexplained weight loss, pins and needles or numbness in the extremities, memory loss, diarrhoea, swollen tongue, dizziness when standing up suddenly (orthostatic hypotension). […] Systemic amyloidosis can be serious or even life-threatening, depending on which parts of the body are affected. […] The heart is a four-chambered pump that circulates blood around the body. Amyloid deposits within the heart muscle restrict its function, leading to heart failure (cardiomyopathy). Symptoms may include breathlessness and irregular heartbeat.
  • #26 Signs & Symptoms of ATTR | ATTR Revealed
    https://www.hattrbridge.com/about-hattr-amyloidosis/symptoms
    Symptoms related to nerves in hands, feet, arms, and legs include tingling, numbness, burning pain, loss of sensitivity to temperature, loss of movement control, and weakness. […] Symptoms related to control over bodily functions include digestive issues (nausea and vomiting, diarrhea, constipation), dizziness upon standing, recurrent urinary tract infections (UTIs), abnormal sweating, sexual dysfunction, and unintentional weight loss. […] Symptoms that affect the muscles, joints, and tendons may appear years before symptoms of heart failure in people living with ATTR. […] Carpal tunnel syndrome, especially in both wrists, may be one of the first symptoms of ATTR. This condition is common and causes pain, numbness, and tingling in the hands, wrists, and arms. Carpal tunnel syndrome may appear up to 10 years before ATTR is diagnosed.
  • #27 Understanding hATTR Amyloidosis | ONPATTRO® (patisiran)
    https://www.onpattro.com/understanding-hattr-amyloidosis
    Symptoms related to other bodily functions: Abnormal sweating, Difficulty urinating, Dizziness upon standing, Recurrent urinary tract infections, Sexual dysfunction. […] Other symptoms of hATTR amyloidosis include: Blurred or spotty vision, Floaters in eyes, Glaucoma, Kidney dysfunction. […] This is not a complete list of symptoms that may be experienced in patients with hATTR amyloidosis. Each patient has a different experience, and you may not experience all of these symptoms, or you may not experience them at the same time. […] As the disease progresses, quality of life can continue to decline: Decreased mobility, Trouble with self-care, Difficulty performing usual activities, Anxiety, Depression. […] Worsening symptoms may require a loved one to help you from time to time.
  • #27 Understanding hATTR Amyloidosis | ONPATTRO® (patisiran)
    https://www.onpattro.com/understanding-hattr-amyloidosis
    hATTR amyloidosis can cause a range of symptoms that do not seem connected. […] Some symptoms of hATTR amyloidosis are caused by polyneuropathy, which is damage to nerves that affects sensation, movement, strength, and bodily functions such as digestion, urination, and sexual function. […] Symptoms related to the nerves in hands, feet, arms and legs: Burning pain, Carpal tunnel syndrome, Decreased reflexes, Difficulty walking, Temperature sensitivity loss, Tingling and/or numbness, Weakness. […] Symptoms related to the digestive system: Diarrhea, Feeling full quickly, Nausea, Severe constipation, Unintentional weight loss, Vomiting. […] Symptoms related to the heart: Abnormal heart rhythms and palpitations (atrial fibrillation), Fatigue, Heart failure, Leg swelling (edema), Shortness of breath.
  • #28 Amyloidosis: Symptoms, Treatment, and More
    https://www.healthline.com/health/amyloidosis
    In its early stages, amyloidosis might not cause any symptoms. When the condition becomes more severe, the symptoms you experience depend on the type of amyloidosis you have and the organ or organs that are affected. […] For example, if your heart is affected, you may experience: shortness of breath, fast, slow, or irregular heart rate, chest pain, low blood pressure, which could cause lightheadedness. […] If your kidneys are affected, you may experience swelling in your legs due to fluid buildup (edema) or foamy urine from excess protein. […] If your liver is affected, you may experience pain and swelling in the upper part of your abdomen. […] If your gastrointestinal tract is affected, you may experience: nausea, diarrhea, constipation, appetite loss, weight loss, feeling of fullness right after eating.
  • #29 For Patients – Signs and Symptoms | UCSF Cardiology
    https://ucsfhealthcardiology.ucsf.edu/patient-care/clinical-services/cardiac-amyloidosis-program/patients/patients-signs-and-symptoms
    Gastrointestinal system: Amyloid can deposit anywhere in the digestive system. This can lead to weight loss, bleeding in the intestines, and difficulty swallowing. Other symptoms such as diarrhea or constipation can occur due to involvement of the autonomic nervous system. […] Other symptoms: Enlargement of the tongue, Hoarseness, Bleeding or easy bruising, Skin and nail changes.
  • #30 Amyloidosis | Cedars-Sinai
    https://www.cedars-sinai.org/health-library/diseases-and-conditions/a/amyloidosis.html
    Symptoms vary widely from person to person and depending on which organs are affected. Some people do not even have symptoms, which makes the condition difficult to diagnose. […] Symptoms include: An enlarged liver, An enlarged tongue (macroglossia), An irregular heartbeat, Diarrhea alternating with constipation, Difficulty swallowing, Dizziness or feeling faint, Loss of weight, Numbness or tingling in the hands or feet, Severe fatigue, Shortness of breath, Skin changes, Swelling of the ankles and legs, Weakness. […] The severity of amyloidosis depends on which organs it affects. It can be life threatening if it causes kidney or heart failure. […] If the amyloidosis affects the kidneys, their ability to filter the blood becomes impaired. Protein leaks from the blood into the urine. The loss of protein from the blood can cause fluid to leak out of the blood vessels, resulting in swelling in the feet, ankles and calves. Eventually, there is so much damage to the kidneys that they are not able to remove waste products from the body and they fail.
  • #31 Primary Systemic Amyloidosis Clinical Presentation: History, Physical Examination, Complications
    https://emedicine.medscape.com/article/1093258-clinical
    Renal amyloidosis usually manifests as proteinuria, often resulting in nephrotic syndrome. […] Edema is frequently found and may be the result of cardiac failure or nephrotic syndrome. […] Amyloid infiltration of the gastrointestinal tract may result in hemorrhage or malabsorption. Gut bleeding may also be fatal. […] Hepatomegaly occurs in about 50% of patients with primary systemic amyloidosis, but splenomegaly is present in less than 10% of patients. […] Autonomic and sensory neuropathies are relatively common features. Autonomic neuropathy may result in symptomatic postural hypotension, impotence, and disturbances in gastrointestinal motility. […] Cardiac involvement may cause angina, infarction, arrhythmias, or orthostatic hypotension. […] Congestive heart failure or arrhythmias account for death in about 40% of the cases of primary systemic amyloidosis. […] Amyloid infiltration of the gastrointestinal tract may result in hemorrhage that can cause malabsorption or even death.
  • #32 Understanding the symptoms of AL Amyloidosis | MCH Blog
    https://www.mycancerhaven.org/blog/amyloidosis/what-are-the-symptoms-of-amyloidosis
    Symptoms related to the gastrointestinal tract: If the digestive system is affected, individuals may experience a loss of appetite, weight loss, diarrhea, or constipation. […] Symptoms related to the liver: Amyloidosis in the liver may cause the organ to enlarge, leading to a feeling of fullness or discomfort in the upper abdomen. […] Symptoms related to soft tissues: Amyloid deposits can lead to conditions like carpal tunnel syndrome or an enlarged tongue, which can cause difficulty swallowing or breathing. […] Symptoms related to the skin: Individuals may notice changes in their skin, such as easy bruising or purplish patches around the eyes.
  • #33 Amyloidosis – Endocrine and Metabolic Disorders – Merck Manual Professional Edition
    https://www.merckmanuals.com/professional/endocrine-and-metabolic-disorders/amyloidosis/amyloidosis
    Soft tissue amyloid involvement characteristically precedes clinical expression of ATTRwt amyloid cardiomyopathy. Manifestations of soft tissue amyloid disease include carpal tunnel syndrome, trigger finger, bicipital tendon rupture, and spinal stenosis. […] Amyloidosis of the thyroid gland may cause a firm, symmetric, nontender goiter resembling that found in Hashimoto thyroiditis. Other endocrinopathies can also occur. […] Lung involvement (mostly in AL amyloidosis) can be characterized by focal pulmonary nodules and cysts, tracheobronchial lesions, pleural effusions, or diffuse alveolar-septal (interstitial) deposits. […] Other manifestations include bruising, often around the eyes (raccoon eyes), caused by amyloid deposits in blood vessels. Amyloid deposits cause weakening of the blood vessels, which may rupture after minor trauma, such as sneezing or coughing.
  • #34 Amyloidosis Symptoms
    https://www.health.com/amyloidosis-symptoms-7972879
    Pulmonary (lung-related) amyloidosis occurs due to amyloid build-up in the trachea (windpipe), larynx (voice box), and nasal sinuses. This can lead to a blockage in your airways, which can cause symptoms such as: Cough, often accompanied by mucus or blood, Shortness of breath, Wheezing, Fluid build-up in the lungs, Recurrent respiratory tract infections, Lung failure, over time. […] Your gastrointestinal (GI) tract is a passageway that connects your mouth to your anus. Amyloidosis in the GI tract can affect any organ including your esophagus, intestines, stomach, and colon. As a result, you may experience the following symptoms: Unintentional weight loss, Diarrhea, Abdominal pain, Constipation, Bloating, Nausea and vomiting, Fatigue, Internal bleeding. […] When amyloid build up in your nerves, the blood vessels that supply blood to your nerves, or in tissues located near your nerves, you will likely experience neurological (brain-related) symptoms. Because your brain serves as the control center for the rest of your body, you may experience symptoms that affect different parts of the body. These symptoms may include: Tingling or burning sensation in the hands or feet, Feeling lightheaded when standing, Difficulty walking and keeping balance, Sexual dysfunction, Lack of sweating.
  • #35 Amyloidosis | Stanford Health Care
    https://stanfordhealthcare.org/medical-conditions/blood-heart-circulation/amyloidosis.html
    Deposits in other areas of the gastrointestinal tract may cause: […] In some people, amyloid deposits build up in the skin and soft tissue. These deposits can cause significant changes in appearance, particularly if they occur in the face. […] People with this condition experience varying symptoms depending on where the amyloid deposits accumulate.
  • #36 Staging and Progression of AL Amyloidosis | MyAmyloidosisTeam
    https://www.myamyloidosisteam.com/resources/staging-and-progression-of-al-amyloidosis
    When amyloid deposits form in the heart, the walls of this critical organ become thickened and stiff. Amyloid deposits make the heart unable to efficiently function. […] As amyloidosis progresses, people may experience heart problems including: Diastolic heart failure, Systolic heart failure, Arrhythmias, Conduction disturbances, Embolic events, Sudden death. […] Cardiac amyloidosis often progresses quickly. […] Complications associated with protein accumulation in the gastrointestinal system can be quite dangerous. […] As amyloidosis progresses, amyloid proteins begin to affect bigger nerves. This can lead to symptoms like numbness and feelings of muscle weakness.
  • #37 Stages of Amyloidosis | MyAmyloidosisTeam
    https://www.myamyloidosisteam.com/resources/stages-of-amyloidosis
    If you are diagnosed with amyloidosis, your doctor will try to determine the stage (how advanced the disease is). […] As you undergo amyloidosis treatments, your doctor may recommend tests to determine whether the disease is progressing (getting worse). […] These tests can help your doctor estimate your outlook (also called prognosis). […] The higher each of these biomarkers is, the later the amyloidosis stage and the more severe the disease is. […] People with early-stage AL amyloidosis live longer than people with advanced disease: […] People with stage 1 AL amyloidosis have all biomarkers at normal levels and live an average of 7.8 years after being diagnosed. […] People with stage 2 AL amyloidosis have one biomarker above normal levels and live an average of 3.4 years after diagnosis.
  • #38 Stages of Amyloidosis | MyAmyloidosisTeam
    https://www.myamyloidosisteam.com/resources/stages-of-amyloidosis
    People with stage 3 AL amyloidosis have two biomarkers above normal levels and live an average of 14 months after being diagnosed. […] People with stage 4 AL amyloidosis have all three biomarkers above normal levels and live an average of 5.8 months after diagnosis. […] Having abnormal levels means that the AL amyloidosis is at a later stage: […] People with later-stage AL amyloidosis are more likely to have kidney problems and need to undergo dialysis treatments in the future. […] Overall, people with AA amyloidosis live for an average of 11 years after being diagnosed. […] However, doctors can use several factors to identify whether the amyloidosis is progressing and estimate the outlook. […] Signs that the kidney is not working correctly indicate that a person has a worse outlook. […] Other factors that increase the risk of a poor outcome include older age, high levels of amyloid protein in the blood, and heart or liver damage.
  • #39 Amyloidosis – Wikipedia
    https://en.wikipedia.org/wiki/Amyloidosis
    People with amyloidosis may experience dysfunction in various organ systems depending on the location and extent of nervous system involvement. […] Potential symptoms include weight loss, diarrhea, abdominal pain, heartburn (gastrointestinal reflux), and GI bleeding. […] Amyloid deposits in tissue can cause enlargement of structures. Twenty percent of people with AL amyloidosis have an enlarged tongue, that can lead to obstructive sleep apnea, difficulty swallowing, and altered taste. […] Prognosis for untreated AL cardiac amyloidosis is poor, with a median survival of six months. […] People with ATTR, mutant ATTR and wild-type ATTR have a better prognosis when compared to people with AL and may survive for over a decade.
  • #40 The Amyloidosis Center
    https://www.rwjbh.org/rwj-university-hospital-new-brunswick/treatment-care/heart-and-vascular-care/programs-and-specialties/amyloidosis-center/
    Amyloidosis is a rare condition caused by an abnormal protein that accumulates in organs, like the heart, kidneys, nerves or liver. Often misdiagnosed or undiagnosed due to its subtle symptoms and multiple organ involvement, at least one type of amyloidosis can be fatal in six months. […] In the heart, for example, amyloidosis stiffens the walls of the heart, making it much less efficient at pumping blood through the body. […] If left untreated, AL amyloidosis can be fatal in six months. Hereditary or wild type amyloidosis can be fatal in 2.5 to 3.5 years on average. […] Diagnosing amyloidosis can be challenging because the symptoms can be similar to other conditions, such as carpal tunnel syndrome, heart failure, renal failure or neuropathy. Other signs of potential amyloidosis include an irregular heartbeat, heart blocks, lightheadedness, tingling or numbness of extremities, diarrhea or constipation, shortness of breath, severe fatigue and swelling in the legs and ankles. […] Your medical team can manage the condition with therapeutic prescription drugs. If detected early, patients can expect a normal quality of life and normal life span.
  • #41 AA Amyloidosis | Amyloidosis Foundation
    https://www.amyloidosis.org/facts/aa
    Symptoms in a patient with AA amyloidosis can be misunderstood as symptoms that relate to their chronic infection or inflammation. At first, a patient may have symptoms such as weight loss, weakness, and swelling (edema). […] With effective treatment of the underlying inflammation amyloid deposits have been known to reduce and nephrotic syndrome can improve. However, if the kidney function has become significantly impaired, it rarely recovers.
  • #42 Neuromuscular Amyloidosis
    https://practicalneurology.com/articles/2021-july-aug/neuromuscular-amyloidosis
    Autonomic neuropathy is among the most debilitating aspects of these conditions, occurring in up to 75% of people with AL-amyloid peripheral neuropathy (AL-PN) and 82% with ATTRv amyloid peripheral neuropathy (ATTRv-PN). […] Amyloid neuropathy can also present with small and large sensory nerve fiber involvement (panmodality sensory loss) and mild or no autonomic symptoms, indistinguishable from common causes of distal symmetric polyneuropathy (eg, diabetes or idiopathic polyneuropathy). […] The progressive nature and autonomic dysfunction are 2 of the most important features of amyloid neuropathy. […] Systemic-amyloidosisassociated myopathy usually presents with proximal predominant symmetrical weakness. One-third of people with AL amyloid myopathy present with dysphagia, which can also be the first manifestation of the disease.
  • #43 hATTR Amyloidosis Disease Overview and Patient Impact
    https://www.hattramyloidosis.com/disease-background
    hATTR amyloidosis is a multisystem, rapidly progressive, often fatal disease. […] Accumulation results in worsening symptoms. […] Amyloid is deposited at multiple sites in the body, causing damage that leads to clinical symptoms. […] Sensory-motor neuropathy can progress more than 10x faster than diabetic neuropathy. […] Significant and measurable decline in cardiac function results in heart failure. […] Heart failure due to hATTR amyloidosis progresses more quickly than with other cardiac conditions. […] Rapid symptom progression. […] Progressive sensory-motor and autonomic neuropathy may suggest hATTR amyloidosis. […] Rapidly progressive sensory-motor neuropathy with multisystem involvement may suggest hATTR amyloidosis. […] Sensory and autonomic neuropathy with HFpEF may suggest hATTR amyloidosis.
  • #44 Cardiac Amyloidosis: Symptoms & Treatment | Mass General Brigham
    https://www.massgeneralbrigham.org/en/patient-care/services-and-specialties/heart/conditions/cardiac-amyloidosis
    Cardiac amyloidosis may cause symptoms such as shortness of breath, leg or abdominal swelling, and atrial fibrillation, leading to palpitations or a rapid, irregular heartbeat. These symptoms, along with others, could indicate amyloidosis involvement beyond the heart. Additional signs may include: […] AL amyloidosis develops rapidly, but chemotherapy can effectively halt its progression. […] Progress in the diagnosis and treatment of cardiac amyloidosis has been significant over the past decade. Early diagnosis is has enabled successful treatment, allowing patients to lead active lives. Ongoing clinical trials for novel therapies also offer hope for removing amyloid from the heart and other affected organs. The prognosis can be very good when patients are diagnosed early and receive treatment from a specialist in cardiac amyloidosis who can accurately identify the type of amyloid and develop a personalized treatment plan.
  • #45 Amyloid heart disease: Definition, symptoms, treatment, and outlook
    https://www.medicalnewstoday.com/articles/amyloid-heart-disease
    Amyloid heart disease occurs when amyloid fibrils build up in the heart, making it more difficult for the heart to pump blood around the body. Eventually, this can lead to heart failure. […] Symptoms that relate to the heart may include: chest pain, exertion, shortness of breath, muscle weakness, lightheadedness and fainting, palpitations. […] A person with end-stage cardiac amyloidosis may experience the following symptoms: breathing difficulties, extreme fatigue, abdominal swelling and pain, unexplained and severe weight loss, irregular heartbeat, kidney or liver dysfunction or failure. […] Generally, people with ATTR amyloidosis have a better outlook than people with the AL type. However, this can vary depending on the severity of the condition at the time of diagnosis and the treatment a person receives.
  • #46 Timing and co-occurrence of symptoms prior to a diagnosis of light chain (AL) amyloidosis | Blood Cancer Journal
    https://www.nature.com/articles/s41408-024-01040-8
    It is well-established that most patients with systemic light chain (AL) amyloidosis have multi-organ involvement and are often diagnosed after a lag period of increasing symptoms. […] The median number of precursor diagnoses was 5 with dyspnea and fatigue being the most prevalent. […] The disease often entails distinct and disparate symptoms across different organ systems over time leading to healthcare visits with multiple specialists. […] Existing literature suggests that more than one-third of patients report symptoms for a year or longer and approximately half sought four or more different physicians before their AL amyloidosis diagnosis was formally established. […] The delay in AL amyloidosis diagnosis leads to many patients being diagnosed with advanced organ involvement, often associated with poor prognosis.
  • #47 Timing and co-occurrence of symptoms prior to a diagnosis of light chain (AL) amyloidosis | Blood Cancer Journal
    https://www.nature.com/articles/s41408-024-01040-8
    The most prevalent precursor diagnoses observed as a diagnostic code at AL amyloidosis diagnosis were as follows; dyspnea (55.3%), fatigue (44.7%), neuropathy (39.9%), chronic kidney disease (37.5%), altered bowels (37.0%), edema (36.5%), and heart failure (36.3%). […] The median time to AL amyloidosis diagnosis from the earliest precursor condition ranged from 3.2 to 21.4 months. […] Our data show that fatigue is also the most catalogued of the precursor diagnoses as an ICD code, seen in 45% of patients with median time 15.6 months before the diagnosis of AL amyloidosis. […] This concordance with known symptoms of the disease document the feasibility to using EHR data of diagnosis codes toward creating algorithms that could improve time from symptom onset to AL amyloidosis diagnosis.
  • #48 Timing and co-occurrence of symptoms prior to a diagnosis of light chain (AL) amyloidosis
    https://pmc.ncbi.nlm.nih.gov/articles/PMC10802702/
    Fatigue is the most common symptom of the disease as reported by 80% of AL amyloidosis patients. […] Other common AL amyloidosis symptoms including dyspnea and edema are also commonly identified as ICD codes by healthcare providers at one year or longer prior to the diagnosis of AL amyloidosis. […] The majority of AL amyloidosis patients have more than one organ involvement, thus correlations between organ systems was of greater interest in our analysis.
  • #49 Transthyretin amyloidosis: MedlinePlus GeneticsLock
    https://medlineplus.gov/genetics/condition/transthyretin-amyloidosis/
  • #50 Amyloid heart disease: Definition, symptoms, treatment, and outlook
    https://www.medicalnewstoday.com/articles/amyloid-heart-disease
    Receiving a diagnosis of amyloid heart disease earlier and getting appropriate treatment can improve outlook and reduce the risk of complications, such as heart damage and failure. […] Amyloid heart disease causes a buildup of misshapen proteins, known as amyloid proteins, in the heart. These proteins can make it more challenging for the heart to pump blood around the body and, over time, damage the heart.
  • #51 AL Amyloidosis | Amyloidosis Foundation
    https://amyloidosis.org/facts/al
    The type of treatment is based upon disease progression and seriousness of the patients organ, tissue, and nerve involvement. Today’s treatment plans are two-fold: Supportive treatment treating your symptoms and organ damage; and, Source treatment slowing down, or stopping, the overproduction of amyloid at the source of the disease. Reversing any damage to the organs and other parts of the body is difficult to achieve. If treatment begins during the early onset of clinical symptoms, the overall success rate is higher, so early detection is essential.
  • #52 Cardiac amyloidosis | Cardiomyopathy UK
    https://www.cardiomyopathy.org/about-cardiomyopathy/related-disorders/cardiac-amyloidosis
    Cardiac amyloidosis is recognised as one of the leading causes of heart failure with preserved ejection fraction (HeFPEF). […] If amyloid deposits build up in the heart it can cause the left ventricle (the main pumping chamber of the heart) to become thicker and stiff, this causes the heart to become weaker and less able to supply the body with blood (known as heart failure). […] Amyloid protein deposits in the heart can in some people lead to: Heart failure – symptoms can include: shortness of breath during activity or while at rest, fatigue, fluid build-up in the abdomen, legs and ankles and for some people difficulty lying flat at night. […] Medications which treat the condition and stabilise the amyloid deposits, for example, Tafamidis, have been shown to help slow the progression of the condition, help reduce symptoms, increase exercise ability and reduce hospitalisation of people diagnosed with wATTR-CM when started soon after diagnosis. […] Tafamidis is approved in England and by The Scottish Medicines Consortium (SMC) for treating transthyretin amyloidosis with cardiomyopathy. It is a once-daily medication which can slow the rate of disease progression and may reduce heart failure symptoms.