Familial amyloidosis causes: Difference between revisions

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__NOTOC__
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{{Familial amyloidosis}}
{{Familial amyloidosis}}
{{CMG}}; {{AE}}  
{{CMG}}; {{AE}} {{Fs}}


== Overview ==
== Overview ==
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]].  
Hereditary amyloidosis can be caused by [[genetic mutations]] in [[genes]] encoding [[Transthyretin amyloidosis|transthyretin]], [[Apolipoprotein AI amyloidosis|apolipoprotein AI]], [[Apolipoprotein AII amyloidosis|apolipoprotein AII]], [[Lysozyme amyloidosis|Lysozyme]], [[Gelsolin related amyloidosis|gelsolin]], [[Fibrinogen A alpha chain amyloidosis|fibrinogen Aa-chain]], and [[Cystatin C amyloidosis|cystatin C]].


==Causes==
==Causes==


=== Causes of Hereditary Amyloidosis ===
=== Common Causes ===
[[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>
Common causes of familial amyloidosis may include genetic mutations in:<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><ref name="Benson2003">{{cite journal|last1=Benson|first1=Merrill D|title=The hereditary amyloidoses|journal=Best Practice & Research Clinical Rheumatology|volume=17|issue=6|year=2003|pages=909–927|issn=15216942|doi=10.1016/j.berh.2003.09.001}}</ref><ref name="Benson20032">{{cite journal|last1=Benson|first1=Merrill D|title=The hereditary amyloidoses|journal=Best Practice & Research Clinical Rheumatology|volume=17|issue=6|year=2003|pages=909–927|issn=15216942|doi=10.1016/j.berh.2003.09.001}}</ref><ref>{{cite book | last = Scriver | first = Charles | title = The metabolic & molecular bases of inherited disease | publisher = McGraw-Hill | location = New York | year = 2001 | isbn = 978-0079130358 }}</ref>


*LYZ [[gene]]
* [[Transthyretin|Transthyretin (TTR)]]
*[[FAP (gene)|Fibrinogen A alpha polypeptide gene]]
* [[Apolipoprotein AI]]
*FGA [[gene]]
* Apolipoprotein AII
*APOA1 [[gene]]
* [[Fibrinogen A alpha-chain associated amyloidosis|Fibrinogen Aa]]
*[[Lysozyme]] [[gene]]
* [[Lysozyme]]
*B2M [[gene]]
* [[Gelsolin]]
* [[Cystatin C]]


=== 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>
**[[Tuberculosis]] (50%)
**[[Familial mediterranean fever|Familial Mediterranean fever]] (26 - 40%)
**[[Rheumatoid arthritis]] (20 - 25%)
**[[Multiple myeloma]] (10 - 15%)
* 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>
**[[Ankylosing spondylitis]]
**[[Psoriatic arthritis]]
**[[Crohn's disease]]
**[[Osteomyelitis]]
**[[Common variable immunodeficiency]]


== References ==
== References ==

Latest revision as of 19:11, 7 February 2020

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

Overview

Hereditary amyloidosis can be caused by genetic mutations in genes encoding transthyretin, apolipoprotein AI, apolipoprotein AII, Lysozyme, gelsolin, fibrinogen Aa-chain, and cystatin C.

Causes

Common Causes

Common causes of familial amyloidosis may include genetic mutations in:[1][2][3][4]


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. ↑ Benson, Merrill D (2003). "The hereditary amyloidoses". Best Practice & Research Clinical Rheumatology. 17 (6): 909–927. doi:10.1016/j.berh.2003.09.001. ISSN 1521-6942.
  3. ↑ Benson, Merrill D (2003). "The hereditary amyloidoses". Best Practice & Research Clinical Rheumatology. 17 (6): 909–927. doi:10.1016/j.berh.2003.09.001. ISSN 1521-6942.
  4. ↑ Scriver, Charles (2001). The metabolic & molecular bases of inherited disease. New York: McGraw-Hill. ISBN 978-0079130358.

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