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{{Amyloidosis}}
{{Amyloidosis}}
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== Overview ==
== Overview ==
Amyloidosis can be systemic or organ specific. In systemic amyloidosis, the secondary form (AL, AA) is much more common than the primary form.
Hereditary amyloidosis can be caused by [[genetic mutations]] in different genes. Causes of acquired amyloidosis can include [[tuberculosis]], [[Familial mediterranean fever|familial Mediterranean fever]], [[rheumatoid arthritis]], [[multiple myeloma]], [[ankylosing spondylitis]], and [[psoriatic arthritis]].  


==Causes==
==Causes==
===Systemic Amyloidosis===
====Primary/Hereditary Amyloidosis====
These rare hereditary disorders are usually due to [[point mutations]] in precursor proteins, and are also usually [[autosomal dominant]]ly transmitted. The precursor proteins are:
* [[Transthyretin]]-the most commonly implicated protein.
* [[Lysozyme]]
* [[Apolipoprotein B]]
* [[Fibrinogen]]
* [[Apolipoprotein A1]]
* [[Gelsolin]]


====Secondary Amyloidosis====
=== Causes of Hereditary Amyloidosis ===
These are far more common than the primary amyloidoses.
[[Mutation|Genetic mutations]] responsible for the development of amyloidosis can involve the following [[genes]]:<ref name="pmid8464497">{{cite journal |vauthors=Pepys MB, Hawkins PN, Booth DR, Vigushin DM, Tennent GA, Soutar AK, Totty N, Nguyen O, Blake CC, Terry CJ |title=Human lysozyme gene mutations cause hereditary systemic amyloidosis |journal=Nature |volume=362 |issue=6420 |pages=553–7 |date=April 1993 |pmid=8464497 |doi=10.1038/362553a0 |url=}}</ref>
* AL amyloidosis: ([[immunoglobulin light chains]] are the precursor protein, overproduced in [[multiple myeloma]]).  This is sometimes, confusingly and erroneously, called 'primary amyloidosis'.
 
* AA amyloidosis: (the precursor protein is [[serum amyloid A protein]] (SAA), an [[acute-phase protein]] due to chronic [[inflammation]]).  In contrast to AL amyloid, this has previously been termed 'secondary amyloidosis'.  These occur with a wide variety of diseases associated with chronic inflammation, such as [[rheumatoid arthritis]], [[familial Mediterranean fever]] or chronic infection.
*LYZ [[gene]]
* Dialysis related amyloidosis: (the precursor protein is [[beta-2-microglobulin]] which is not removed with [[dialysis]], and thus accumulates in patients with [[end stage renal failure]] on dialysis).
*[[FAP (gene)|Fibrinogen A alpha polypeptide gene]]
*FGA [[gene]]
*APOA1 [[gene]]
*[[Lysozyme]] [[gene]]
*B2M [[gene]]
 
=== Causes of Acquired Amyloidosis ===
 
* Most common causes of acquired amyloidosis include:<ref name="pmid21494083">{{cite journal |vauthors=Shin YM |title=Hepatic amyloidosis |journal=Korean J Hepatol |volume=17 |issue=1 |pages=80–3 |date=March 2011 |pmid=21494083 |pmc=3304630 |doi=10.3350/kjhep.2011.17.1.80 |url=}}</ref>


===Organ-Specific Amyloidosis===
**[[Tuberculosis]] (50%)
In almost all of the organ-specific pathologies, there is '''significant debate''' as to whether the amyloid plaques are the causal agent of the disease or instead a downstream consequence of a common [[idiopathic]] agent.  The associated proteins are indicated in parentheses. 
**[[Familial mediterranean fever|Familial Mediterranean fever]] (26 - 40%)
**[[Rheumatoid arthritis]] (20 - 25%)
**[[Multiple myeloma]] (10 - 15%)


'''Neurological Amyloid'''
* Less common causes of acquired amyloidosis include:<ref name="pmid26351592">{{cite journal |vauthors=Meira T, Sousa R, Cordeiro A, Ilgenfritz R, Borralho P |title=Intestinal Amyloidosis in Common Variable Immunodeficiency and Rheumatoid Arthritis |journal=Case Rep Gastrointest Med |volume=2015 |issue= |pages=405695 |date=2015 |pmid=26351592 |pmc=4553190 |doi=10.1155/2015/405695 |url=}}</ref><ref name="pmid24558615">{{cite journal |vauthors=Kadiroğlu AK, Yıldırım Y, Yılmaz Z, Kayabaşı H, Avcı Y, Yıldırım MS, Yılmaz ME |title=A rare cause of secondary amyloidosis: common variable immunodeficiency disease |journal=Case Rep Nephrol |volume=2012 |issue= |pages=860208 |date=2012 |pmid=24558615 |pmc=3914192 |doi=10.1155/2012/860208 |url=}}</ref><ref name="pmid26161016">{{cite journal |vauthors=Lim AY, Lee JH, Jung KS, Gwag HB, Kim DH, Kim SJ, Lee GY, Kim JS, Kim HJ, Lee SY, Lee JE, Jeon ES, Kim K |title=Clinical features and outcomes of systemic amyloidosis with gastrointestinal involvement: a single-center experience |journal=Korean J. Intern. Med. |volume=30 |issue=4 |pages=496–505 |date=July 2015 |pmid=26161016 |pmc=4497337 |doi=10.3904/kjim.2015.30.4.496 |url=}}</ref>
* [[Alzheimer's disease]] ([[Amyloid beta|Aβ 39-43]])
 
* [[Parkinson's disease]] ([[alpha-synuclein]])
**[[Ankylosing spondylitis]]
* [[Huntington's disease]] ([[huntingtin]])
**[[Psoriatic arthritis]]
* [[Transmissible spongiform encephalopathy|Transmissible spongiform encephalopathies]] caused by [[prion|prion protein]] (PrP) were sometimes classed as amyloidoses, as one of the four pathological features in diseased tissue is the presence of [[amyloid plaques]]. These diseases include
**[[Crohn's disease]]
** [[Creutzfeldt-Jakob disease]] (PrP in [[cerebrum]])
**[[Osteomyelitis]]
** [[Kuru]] (diffuse PrP deposits in brain)
**[[Common variable immunodeficiency]]  
** [[Fatal Familial Insomnia]] (PrP in [[thalamus]])
** [[Bovine spongiform encephalopathy]] (PrP in [[cerebrum]] of cows)
'''Cardiovascular amyloid'''
* [[Cardiac amyloidosis]]
* See the chapter on [[CMR in Cardiac Amyloidosis]]
** Senile cardiac amyloidosis-may cause [[heart failure]]
* [[Congophilic angiopathy]]
'''Other'''
* [[Amylin]] deposition can occur in the [[pancreas]] in some cases of [[Diabetes mellitus type 2|type 2 diabetes mellitus]]


== References ==
== References ==
{{reflist|2}}
{{reflist|2}}
{{WH}}
{{WS}}
[[CME Category::Cardiology]]


[[Category:Disease]]
[[Category:Disease]]
[[Category:Rheumatology]]
[[Category:Rheumatology]]
[[Category:Cardiology]]
[[Category:Cardiology]]
[[Category:Mature chapter]]
[[Category:Metabolic disorders]]
[[Category:Inborn errors of metabolism]]
[[Category:Endocrinology]]
[[Category:Endocrinology]]
[[Category:Needs causes]]
[[Category:Needs causes]]
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Latest revision as of 01:29, 26 October 2019

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Shaghayegh Habibi, M.D.[2]

Overview

Hereditary amyloidosis can be caused by genetic mutations in different genes. Causes of acquired amyloidosis can include tuberculosis, familial Mediterranean fever, rheumatoid arthritis, multiple myeloma, ankylosing spondylitis, and psoriatic arthritis.

Causes

Causes of Hereditary Amyloidosis

Genetic mutations responsible for the development of amyloidosis can involve the following genes:[1]

Causes of Acquired Amyloidosis

  • Most common causes of acquired amyloidosis include:[2]
  • Less common causes of acquired amyloidosis include:[3][4][5]

References

  1. Pepys MB, Hawkins PN, Booth DR, Vigushin DM, Tennent GA, Soutar AK, Totty N, Nguyen O, Blake CC, Terry CJ (April 1993). "Human lysozyme gene mutations cause hereditary systemic amyloidosis". Nature. 362 (6420): 553–7. doi:10.1038/362553a0. PMID 8464497.
  2. Shin YM (March 2011). "Hepatic amyloidosis". Korean J Hepatol. 17 (1): 80–3. doi:10.3350/kjhep.2011.17.1.80. PMC 3304630. PMID 21494083.
  3. Meira T, Sousa R, Cordeiro A, Ilgenfritz R, Borralho P (2015). "Intestinal Amyloidosis in Common Variable Immunodeficiency and Rheumatoid Arthritis". Case Rep Gastrointest Med. 2015: 405695. doi:10.1155/2015/405695. PMC 4553190. PMID 26351592.
  4. Kadiroğlu AK, Yıldırım Y, Yılmaz Z, Kayabaşı H, Avcı Y, Yıldırım MS, Yılmaz ME (2012). "A rare cause of secondary amyloidosis: common variable immunodeficiency disease". Case Rep Nephrol. 2012: 860208. doi:10.1155/2012/860208. PMC 3914192. PMID 24558615.
  5. Lim AY, Lee JH, Jung KS, Gwag HB, Kim DH, Kim SJ, Lee GY, Kim JS, Kim HJ, Lee SY, Lee JE, Jeon ES, Kim K (July 2015). "Clinical features and outcomes of systemic amyloidosis with gastrointestinal involvement: a single-center experience". Korean J. Intern. Med. 30 (4): 496–505. doi:10.3904/kjim.2015.30.4.496. PMC 4497337. PMID 26161016.

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