Amyloidosis

metabolic disease involving abnormal deposited amyloid proteins

Amyloidosis is a rare and serious disease that causes abnormal proteins to build up in the body's tissues.[1][2] These abnormal, insoluble proteins are called amyloid fibrils.[1] Amyloidosis can be fatal.[2]

In "local amyloidosis," amyloid deposits build up in just one part of the body, or in a single organ system. In "systemic amyloidosis," the deposits build up in organs and tissues throughout the body.

Because amyloidosis can affect different parts of the body, it can cause many different symptoms. It can be challenging to confirm that amyloid fibrils are in the body's tissues, which can delay diagnosis.

There are many different types of amyloidosis. Each is caused by the formation of amyloid fibrils. However, these fibrils develop from different types of proteins in different patients.[2][3] About 30 different proteins are known to form amyloid fibrils in humans.[4] Amyloidosis is named and classified according to which protein is causing a person's amyloid fibrils.[3]

Though this disease is rare, many famous people have died from amyloidosis, including Martin McGuinness, David Lange, Robert Jordan and Robert P. Casey.

References

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  1. 1.0 1.1 Wechalekar, Ashutosh D.; Gillmore, Julian D.; Hawkins, Philip N. (2015-12-21). "Systemic amyloidosis". Lancet (London, England). 387 (10038): 2641–2654. doi:10.1016/S0140-6736(15)01274-X. ISSN 1474-547X. PMID 26719234. S2CID 4762107.
  2. 2.0 2.1 2.2 Pepys, Mark B. (2006-01-01). "Amyloidosis". Annual Review of Medicine. 57: 223–241. doi:10.1146/annurev.med.57.121304.131243. ISSN 0066-4219. PMID 16409147.
  3. 3.0 3.1 Pepys MB and Hawkins PN, Amyloidosis (2010). Warrell, David A; Cox, Timothy M; Firth, John D (eds.). "Oxford Textbook of Medicine" (5th ed.). Edited by Warrel DA, Cox TM, Firth JD (published 2012). doi:10.1093/med/9780199204854.001.1. ISBN 978-0-19-920485-4. {{cite journal}}: Cite journal requires |journal= (help)
  4. Sipe, Jean D.; Benson, Merrill D.; Buxbaum, Joel N.; Ikeda, Shu-ichi; Merlini, Giampaolo; Saraiva, Maria J. M.; Westermark, Per (2014-12-01). "Nomenclature 2014: Amyloid fibril proteins and clinical classification of the amyloidosis". Amyloid. 21 (4): 221–224. doi:10.3109/13506129.2014.964858. ISSN 1744-2818. PMID 25263598. S2CID 41000320.

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