Amyloidosis classification: Difference between revisions

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{{Amyloidosis}}
{{Amyloidosis}}
{{CMG}}
 
{{CMG}}{{AE}}{{HK}}{{SHH}}
 
== Overview ==
== Overview ==
Of the 15 biologically distinct forms of amyloid, the most common ones include AL, AA, Aβ, ATTR and Aβ<sub>2</sub>M.
Amyloidosis may be classified on the basis of type of amyloidogenic protein and associated clinical syndromes into primary (AL) amyloidosis, secondary (AA) amyloidosis, familial (AF) amyloidosis, transthyretin (ATTRwt) amyloidosis and dialysis-associated (AH) amyloidosis. It can also be classified based on extent of [[organ system]] involvement.  


==Classification==
==Classification==
There are 15 biologically distinct forms of amyloid, some more clinically significant than others.  Following is a brief description of the more common types of amyloid:


{| class="wikitable" class="sortable wikitable"
=== '''Classification Based on [[Precursor]] of Amyloidogenic [[Protein]]:''' <ref name="pmid28134587">{{cite journal |vauthors=Khoor A, Colby TV |title=Amyloidosis of the Lung |journal=Arch. Pathol. Lab. Med. |volume=141 |issue=2 |pages=247–254 |date=February 2017 |pmid=28134587 |doi=10.5858/arpa.2016-0102-RA |url=}}</ref><ref name="pmid30614283">{{cite journal |vauthors=Benson MD, Buxbaum JN, Eisenberg DS, Merlini G, Saraiva MJM, Sekijima Y, Sipe JD, Westermark P |title=Amyloid nomenclature 2018: recommendations by the International Society of Amyloidosis (ISA) nomenclature committee |journal=Amyloid |volume=25 |issue=4 |pages=215–219 |date=December 2018 |pmid=30614283 |doi=10.1080/13506129.2018.1549825 |url=}}</ref> ===
{| class="wikitable"
! align="center" style="background:#4479BA; color: #FFFFFF;" + |Type
! align="center" style="background:#4479BA; color: #FFFFFF;" + |Abbreviation
! align="center" style="background:#4479BA; color: #FFFFFF;" + |Amyloidogenic Protein/Fibril
! align="center" style="background:#4479BA; color: #FFFFFF;" + |Acquired/Inherited
! align="center" style="background:#4479BA; color: #FFFFFF;" + |Most Common Organ Involvement
! align="center" style="background:#4479BA; color: #FFFFFF;" + |Associated Conditions
|-
|-
! Official<BR>abb.
| style="background:#DCDCDC;" |'''Primary amyloidosis'''
! Amyloid type/Gene
|AL
! Description
|
! [[OMIM]]
* [[Light chain|Light chains]] of [[Immunoglobulin|immunoglobulines]] (most common type)
|[[Acquired disorder|Acquired]]
|[[Heart]] and [[kidneys]]
|
* [[Monoclonal gammopathy]]
|-
|-
| '''AL'''
| style="background:#DCDCDC;" |'''Secondary amyloidosis'''
| [[amyloid light chain]]
|AA
| [[AL amyloidosis]] / [[multiple myeloma]]. Contains [[immunoglobulin light-chains]] (λ,κ) derived from plasma cells.
|
| {{OMIM2|254500}}
* [[Serum amyloid A|Serum amyloid A protein]]
|[[Acquired disorder|Acquired]]
|[[Kidneys]] (early), [[heart]] and [[liver]] (late)
|
* [[Chronic inflammation|Chronic inflammatory diseases:]]
** [[Rheumatoid arthritis]]
** [[Juvenile arthritis|Juvenile inflammatory arthritis]]
** [[Intravenous drug use]]
** Familial periodic fever syndromes
|-
|-
| '''AA'''
| style="background:#DCDCDC;" |'''Senile systemic or wild-type amyloidosis'''
| [[Serum amyloid A|SAA]]
|ATTRwt/ATTRvar
| [[AA amyloidosis]]
|
*[[Transthyretin|Wild-type transthyretin (TTRwt)]]
* Abnormal TTR gene (TTRvar)
|[[Acquired disorder|Acquired]] (ATTRwt) or [[Hereditary]] (ATTRvar)
|[[Heart]] and [[nerves]] (more common in hereditary type)
|
* [[Senile]] [[restrictive cardiomyopathy]]/[[Transthyretin]]-related amyloidosis wild-type
*ATTRwt common in males and exhibits involvement of [[ligaments]] and tenosynovium
*ATTRvar may involve [[eyes]] and [[leptomeninges]]
|-
|-
| '''Aβ'''
| style="background:#DCDCDC;" |'''β2-microglobulin related amyloidosis'''
| [[β amyloid]]/[[Amyloid precursor protein|APP]]
|AH
| Found in [[Alzheimer disease]] brain lesions.
|
| {{OMIM2|605714}}
*[[Beta-2 microglobulin|ß2-microglobulin]]
|[[Acquired disorder|Acquired]] or [[Hereditary]]
|[[Nerves]] ([[Peripheral nerve|peripheral]] and [[Autonomic nervous system|autonomic]])
|
* Long-term [[hemodialysis]]
|-
|-
| '''ATTR'''
| style="background:#DCDCDC;" |'''Leucocyte cell–derived chemotaxin 2 related amyloidosis'''
| [[transthyretin]]
|ALect2
| A mutant form of a normal serum protein that is deposited in the genetically determined [[familial amyloid polyneuropathies]].  TTR is also deposited in the heart in [[senile systemic amyloidosis]].<ref name="pmid16107109">{{cite journal |author=Hassan W, Al-Sergani H, Mourad W, Tabbaa R |title=Amyloid heart disease. New frontiers and insights in pathophysiology, diagnosis, and management |journal=Tex Heart Inst J |volume=32 |issue=2 |pages=178–84 |year=2005 |pmid=16107109 |doi= |url= |pmc=1163465}}</ref> Also found in [[Leptomeningeal amyloidosis]].
|
| {{OMIM2|105210}}
* Leucocyte cell–derived chemotaxin 2
|[[Acquired disorder|Acquired]]
|[[Kidneys]] and [[liver]]
|
*[[Nephrotic syndrome]]
*[[Proteinuria]]
 
*
|-
|-
| '''Aβ<sub>2</sub>M'''
| style="background:#DCDCDC;" |'''Fibrinogen A alpha-chain associated amyloidosis'''
| [[beta-2 microglobulin|β<sub>2</sub> microglobulin]]
|AF
| Not to be confused with '''Aβ''', β<sub>2</sub>m is a normal serum protein, part of [[major histocompatibility complex]] (MHC) Class 1 molecules. [[Haemodialysis-associated amyloidosis]]
|
*[[Fibrinogen]]
|[[Hereditary]]
|[[Kidneys]] and [[liver]]
|
* Familial [[polyneuropathy]]/[[cardiomyopathy]]/[[nephropathy]]
|-
|-
| '''AIAPP'''
| style="background:#DCDCDC;" |'''Abnormal Apolipoprotein A-I, AII, and AIV related amyloidosis'''
| [[amylin]]
|AApoA-I
| Found in the pancreas of patients with [[Diabetes mellitus type 2|type 2 diabetes]].
|
* Aberrant [[apolipoprotein A-I]], [[Apolipoprotein A2|A-II]] and A-IV proteins
|[[Hereditary]]
|[[Kidneys]], [[liver]] and [[nerves]] ([[Peripheral nerve|peripheral]])
|
*[[Testicular]] involvement (possible relation to [[steroidogenic]] tissues)
|-
|-
| '''APrP'''
| style="background:#DCDCDC;" |'''Lysozyme amyloid related amyloidosis'''
| [[prion protein]]
|ALys
| In [[prion]] diseases, misfolded prion proteins deposit in tissues and resemble amyloid proteins.  Some examples are [[Creutzfeldt–Jakob disease]] (humans), [[Bovine spongiform encephalopathy|BSE or "mad cow disease"]] (cattle), and [[scrapie]] (sheep and goats).
|
| {{OMIM2|123400}}
* Aberrant [[lysozyme]]
|[[Hereditary]]
|[[Liver]] and [[kidneys]]
|
*[[Gastrointestinal tract|Gastrointestinal]] involvement
|-
|-
| '''AGel'''
| style="background:#DCDCDC;" |'''Gelsolin related amyloidosis'''
| [[gelsolin|GSN]]
|AGel
|  [[Finnish type amyloidosis]]
|
| {{OMIM2|105120}}
* Abnormal [[gelsolin]]
|-
|[[Hereditary]]
| '''ACys'''
|[[Kidneys]] and [[nerves]] ([[Peripheral nerve|peripheral]] and [[Cranial nerves|cranial]])
| [[Cystatin C|CST3]]
|
| [[Cerebral amyloid angiopathy]], Icelandic-type
*[[Cranial nerves|Cranial]] neuropathy
| {{OMIM2|105150}}
|-
| '''AApoA1'''
|  [[APOA1]]
|  [[Familial visceral amyloidosis]]
| {{OMIM2|105200}}
|-
| '''AFib'''
|   [[Fibrinogen alpha chain|FGA]]
| [[Familial visceral amyloidosis]]
| {{OMIM2|105200}}
|-
| '''ALys'''
|  [[LYZ]]
|  [[Familial visceral amyloidosis]]
| {{OMIM2|105200}}
|-
| ?
| [[OSMR]]
| [[Primary cutaneous amyloidosis]]
| {{OMIM2|105250}}
|-
| '''ABri'''<BR>'''ADan'''
| [[ITM2B]]
| [[Cerebral amyloid angiopathy]], British-type<BR>Danish-type
| {{OMIM2|176500}}<BR>{{OMIM2|117300}}
|-
| '''APro'''
| [[prolactin]]
| [[Prolactinoma]]
|
|-
| '''AKer'''
| [[keratoepithelin]]
| [[Familial corneal amyloidosis]]
|
|-
| '''AANF'''
| [[atrial natriuretic factor]]
| [[Senile amyloid of atria of heart]]
|
|-
| '''ACal'''
| [[calcitonin]]
| [[Medullary carcinoma of the thyroid]]
|
|}
|}


== References ==
===Classification Based on Organ Involvement:<ref name="pmid26719234">{{cite journal |vauthors=Wechalekar AD, Gillmore JD, Hawkins PN |title=Systemic amyloidosis |journal=Lancet |volume=387 |issue=10038 |pages=2641–2654 |date=June 2016 |pmid=26719234 |doi=10.1016/S0140-6736(15)01274-X |url=}}</ref><ref name="pmid27634125">{{cite journal |vauthors=Falk RH, Alexander KM, Liao R, Dorbala S |title=AL (Light-Chain) Cardiac Amyloidosis: A Review of Diagnosis and Therapy |journal=J. Am. Coll. Cardiol. |volume=68 |issue=12 |pages=1323–41 |date=September 2016 |pmid=27634125 |doi=10.1016/j.jacc.2016.06.053 |url=}}</ref>===
{| class="wikitable"
! align="center" style="background:#4479BA; color: #FFFFFF;" + |Classification
! align="center" style="background:#4479BA; color: #FFFFFF;" + |Subtypes
! align="center" style="background:#4479BA; color: #FFFFFF;" + |Causes
! align="center" style="background:#4479BA; color: #FFFFFF;" + |Clinical Features
|-
! rowspan="3" style="background:#DCDCDC;" |Systemic amyloidosis
! style="background:#DCDCDC;" |Primary amyloidosis (AL)
|
*Aggregation and deposition of [[immunoglobulin]] [[Light chain|light chains]] that usually produced by [[plasma cell]] clones
|
*[[Nephrotic syndrome]]
*[[Restrictive cardiomyopathy]]
*[[Peripheral neuropathy]]
*[[Hepatomegaly]] with elevated [[liver enzymes]]
*[[Macroglossia]]
*[[Purpura]] and an unexplained [[Hemorrhagic diathesis|bleeding diathesis]]
|-
! style="background:#DCDCDC;" |Secondary amyloidosis (AA)
|
*Chronic [[inflammation]] ([[Tuberculosis|TB]], [[familial mediterranean fever]], [[rheumatoid arthritis]] and [[multiple myeloma]])
|
*[[Nephrotic syndrome]]
*[[Congestive heart failure|Heart failure]]
|-
! style="background:#DCDCDC;" |Hereditary amyloidosis
|
*Amyloidogenic [[Mutation|mutations]] and subsequently deposition of [[Amyloid|amyloids]]
|
*[[Congestive heart failure|Heart failure]]
*[[Cardiac arrhythmia|Arrhythmia]]
|-
! rowspan="5" style="background:#DCDCDC;" |Organ-specific amyloidosis
! style="background:#DCDCDC;" |[[Renal amyloidosis]]
| rowspan="5" |
*[[AL amyloidosis|Immunoglobulin light-chain amyloidosis (AL amyloidosis)]]
*[[Transthyretin-related hereditary amyloidosis|Transthyretin-related amyloidosis]] (associated with familial/mutant or senile/wild-type [[Transthyretin|TTR]])
|
*[[Proteinuria]]
*[[Nephrotic syndrome]]
 
*[[Chronic renal failure]]
|-
! style="background:#DCDCDC;" |[[Cardiac amyloidosis]]
|
*[[Systolic dysfunction]]
 
*[[Diastolic dysfunction]]
*[[Cardiac arrhythmia|Arrhythmia]]
|-
! style="background:#DCDCDC;" |[[Hepatic amyloidosis with intrahepatic cholestasis|Hepatic amyloidosis]]
|
*[[Hepatomegaly]]
*Elevated [[liver enzymes]]
|-
! style="background:#DCDCDC;" |Amyloid neuropathy
|
*[[Peripheral neuropathy]] and [[autonomic neuropathy]]
*[[Neurodegenerative disease|Neurodegenerative disorders]]:
**[[Parkinson's disease|Parkinson]], [[Alzheimer's disease|Alzheimer]], and [[Huntington's disease]]
|-
! style="background:#DCDCDC;" |Gastrointestinal amyloidosis
|
*Nonspecific findings:
**[[Dyspepsia]], [[abdominal pain]], [[diarrhea]], [[malabsorption]]
|}
 
==Refrences==
{{reflist|2}}
{{reflist|2}}
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[[Category:Disease]]
 
[[Category:Rheumatology]]
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[[Category:Cardiology]]
 
[[Category:Mature chapter]]
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[[Category:Metabolic disorders]]
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[[Category:Inborn errors of metabolism]]
[[Category:Endocrinology]]

Latest revision as of 21:52, 10 December 2019

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• Primary amyloidosis
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• Gelsolin related amyloidosis
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Syed Hassan A. Kazmi BSc, MD [2]Shaghayegh Habibi, M.D.[3]

Overview

Amyloidosis may be classified on the basis of type of amyloidogenic protein and associated clinical syndromes into primary (AL) amyloidosis, secondary (AA) amyloidosis, familial (AF) amyloidosis, transthyretin (ATTRwt) amyloidosis and dialysis-associated (AH) amyloidosis. It can also be classified based on extent of organ system involvement.

Classification

Classification Based on Precursor of Amyloidogenic Protein: [1][2]

Type Abbreviation Amyloidogenic Protein/Fibril Acquired/Inherited Most Common Organ Involvement Associated Conditions
Primary amyloidosis AL Acquired Heart and kidneys
Secondary amyloidosis AA Acquired Kidneys (early), heart and liver (late)
Senile systemic or wild-type amyloidosis ATTRwt/ATTRvar Acquired (ATTRwt) or Hereditary (ATTRvar) Heart and nerves (more common in hereditary type)
β2-microglobulin related amyloidosis AH Acquired or Hereditary Nerves (peripheral and autonomic)
Leucocyte cell–derived chemotaxin 2 related amyloidosis ALect2
  • Leucocyte cell–derived chemotaxin 2
 Acquired Kidneys and liver
Fibrinogen A alpha-chain associated amyloidosis AF Hereditary Kidneys and liver
Abnormal Apolipoprotein A-I, AII, and AIV related amyloidosis AApoA-I Hereditary Kidneys, liver and nerves (peripheral)
Lysozyme amyloid related amyloidosis ALys Hereditary Liver and kidneys
Gelsolin related amyloidosis AGel Hereditary Kidneys and nerves (peripheral and cranial)

Classification Based on Organ Involvement:[3][4]

Classification Subtypes Causes Clinical Features
Systemic amyloidosis Primary amyloidosis (AL)
Secondary amyloidosis (AA)
Hereditary amyloidosis
Organ-specific amyloidosis Renal amyloidosis
Cardiac amyloidosis
Hepatic amyloidosis
Amyloid neuropathy
Gastrointestinal amyloidosis

Refrences

  1. ↑ Khoor A, Colby TV (February 2017). "Amyloidosis of the Lung". Arch. Pathol. Lab. Med. 141 (2): 247–254. doi:10.5858/arpa.2016-0102-RA. PMID 28134587.
  2. ↑ Benson MD, Buxbaum JN, Eisenberg DS, Merlini G, Saraiva M, Sekijima Y, Sipe JD, Westermark P (December 2018). "Amyloid nomenclature 2018: recommendations by the International Society of Amyloidosis (ISA) nomenclature committee". Amyloid. 25 (4): 215–219. doi:10.1080/13506129.2018.1549825. PMID 30614283. Vancouver style error: initials (help)
  3. ↑ Wechalekar AD, Gillmore JD, Hawkins PN (June 2016). "Systemic amyloidosis". Lancet. 387 (10038): 2641–2654. doi:10.1016/S0140-6736(15)01274-X. PMID 26719234.
  4. ↑ Falk RH, Alexander KM, Liao R, Dorbala S (September 2016). "AL (Light-Chain) Cardiac Amyloidosis: A Review of Diagnosis and Therapy". J. Am. Coll. Cardiol. 68 (12): 1323–41. doi:10.1016/j.jacc.2016.06.053. PMID 27634125.

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