Amyloidosis classification: Difference between revisions

Jump to navigation Jump to search
VisualWikitext
(Created page with "__NOTOC__ {{Amyloidosis}} {{CMG}} == Overview == There are 15 biologically distinct forms of amyloid, some more clinically significant than others. Following is a brief desc...")
 
 
(30 intermediate revisions by 8 users not shown)
Line 1: Line 1:
__NOTOC__
__NOTOC____NOTOC__
{{Amyloidosis}}
{{Amyloidosis}}
{{CMG}}
 
{{CMG}}{{AE}}{{HK}}{{SHH}}
 
== Overview ==
== 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==


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:
=== '''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
|-
| style="background:#DCDCDC;" |'''Primary amyloidosis'''
|AL
|
* [[Light chain|Light chains]] of [[Immunoglobulin|immunoglobulines]] (most common type)
|[[Acquired disorder|Acquired]]
|[[Heart]] and [[kidneys]]
|
* [[Monoclonal gammopathy]]
|-
| style="background:#DCDCDC;" |'''Secondary amyloidosis'''
|AA
|
* [[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
|-
| style="background:#DCDCDC;" |'''Senile systemic or wild-type amyloidosis'''
|ATTRwt/ATTRvar
|
*[[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]]
|-
| style="background:#DCDCDC;" |'''β2-microglobulin related amyloidosis'''
|AH
|
*[[Beta-2 microglobulin|ß2-microglobulin]]
|[[Acquired disorder|Acquired]] or [[Hereditary]]
|[[Nerves]] ([[Peripheral nerve|peripheral]] and [[Autonomic nervous system|autonomic]])
|
* Long-term [[hemodialysis]]
|-
| style="background:#DCDCDC;" |'''Leucocyte cell–derived chemotaxin 2 related amyloidosis'''
|ALect2
|
* Leucocyte cell–derived chemotaxin 2
|[[Acquired disorder|Acquired]]
|[[Kidneys]] and [[liver]]
|
*[[Nephrotic syndrome]]
*[[Proteinuria]]


{| class="wikitable" class="sortable wikitable"
*
|-
| style="background:#DCDCDC;" |'''Fibrinogen A alpha-chain associated amyloidosis'''
|AF
|
*[[Fibrinogen]]
|[[Hereditary]]
|[[Kidneys]] and [[liver]]
|
* Familial [[polyneuropathy]]/[[cardiomyopathy]]/[[nephropathy]]
|-
| style="background:#DCDCDC;" |'''Abnormal Apolipoprotein A-I, AII, and AIV related amyloidosis'''
|AApoA-I
|
* 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)
|-
| style="background:#DCDCDC;" |'''Lysozyme amyloid related amyloidosis'''
|ALys
|
* Aberrant [[lysozyme]]
|[[Hereditary]]
|[[Liver]] and [[kidneys]]
|
*[[Gastrointestinal tract|Gastrointestinal]] involvement
|-
|-
! Official<BR>abb.
| style="background:#DCDCDC;" |'''Gelsolin related amyloidosis'''
! Amyloid type/Gene
|AGel
! Description
|
! [[OMIM]]
* Abnormal [[gelsolin]]
|[[Hereditary]]
|[[Kidneys]] and [[nerves]] ([[Peripheral nerve|peripheral]] and [[Cranial nerves|cranial]])
|
*[[Cranial nerves|Cranial]] neuropathy
|}
 
===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
|-
|-
| '''AL'''
! rowspan="3" style="background:#DCDCDC;" |Systemic amyloidosis
| [[amyloid light chain]]
! style="background:#DCDCDC;" |Primary amyloidosis (AL)
| [[AL amyloidosis]] / [[multiple myeloma]]. Contains [[immunoglobulin light-chains]] (λ,κ) derived from plasma cells.
|
| {{OMIM2|254500}}
*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]]
|-
|-
| '''AA'''
! style="background:#DCDCDC;" |Secondary amyloidosis (AA)
| [[Serum amyloid A|SAA]]
|
| [[AA amyloidosis]]
*Chronic [[inflammation]] ([[Tuberculosis|TB]], [[familial mediterranean fever]], [[rheumatoid arthritis]] and [[multiple myeloma]])
|
*[[Nephrotic syndrome]]
*[[Congestive heart failure|Heart failure]]
|-
|-
| '''Aβ'''
! style="background:#DCDCDC;" |Hereditary amyloidosis
| [[β amyloid]]/[[Amyloid precursor protein|APP]]
|
| Found in [[Alzheimer disease]] brain lesions.
*Amyloidogenic [[Mutation|mutations]] and subsequently deposition of [[Amyloid|amyloids]]
| {{OMIM2|605714}}
|
*[[Congestive heart failure|Heart failure]]
*[[Cardiac arrhythmia|Arrhythmia]]
|-
|-
| '''ATTR'''
! rowspan="5" style="background:#DCDCDC;" |Organ-specific amyloidosis
| [[transthyretin]]
! style="background:#DCDCDC;" |[[Renal amyloidosis]]
| 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]].
| rowspan="5" |
| {{OMIM2|105210}}
*[[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]]
|-
|-
| '''Aβ<sub>2</sub>M'''
! style="background:#DCDCDC;" |[[Cardiac amyloidosis]]
| [[beta-2 microglobulin|β<sub>2</sub> microglobulin]]
|
| 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]]
*[[Systolic dysfunction]]
 
*[[Diastolic dysfunction]]
*[[Cardiac arrhythmia|Arrhythmia]]  
|-
|-
| '''AIAPP'''
! style="background:#DCDCDC;" |[[Hepatic amyloidosis with intrahepatic cholestasis|Hepatic amyloidosis]]
| [[amylin]]
|
| Found in the pancreas of patients with [[Diabetes mellitus type 2|type 2 diabetes]].
*[[Hepatomegaly]]  
*Elevated [[liver enzymes]]
|-
|-
| '''APrP'''
! style="background:#DCDCDC;" |Amyloid neuropathy
| [[prion protein]]
|
| 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).
*[[Peripheral neuropathy]] and [[autonomic neuropathy]]
| {{OMIM2|123400}}
*[[Neurodegenerative disease|Neurodegenerative disorders]]:
**[[Parkinson's disease|Parkinson]], [[Alzheimer's disease|Alzheimer]], and [[Huntington's disease]]
|-
|-
| '''AGel'''
! style="background:#DCDCDC;" |Gastrointestinal amyloidosis
| [[gelsolin|GSN]]
|
|  [[Finnish type amyloidosis]]
*Nonspecific findings:
| {{OMIM2|105120}}
**[[Dyspepsia]], [[abdominal pain]], [[diarrhea]], [[malabsorption]]
|-
| '''ACys'''
| [[Cystatin C|CST3]]
| [[Cerebral amyloid angiopathy]], Icelandic-type
| {{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 ==
==Refrences==
{{reflist|2}}
{{reflist|2}}
{{WH}}
{{WS}}
ocrinology]]


{{WH}}
{{WH}}
{{WS}}
{{WS}}

Latest revision as of 21:52, 10 December 2019

Amyloidosis Microchapters

Home

Patient Information

Overview

Historical Perspective

Classification

• Primary amyloidosis
• Secondary amyloidosis
• Familial amyloidosis
• Wild-type (senile) amyloidosis
• Cardiac amyloidosis
• Beta-2 microglobulin related amyloidosis
• Gelsolin related amyloidosis
• Lysozyme amyloid related amyloidosis
• Leucocyte cell-derived chemotaxin 2 related amyloidosis
• Fibrinogen A alpha-chain associated amyloidosis

Pathophysiology

Causes

Differentiating Amyloidosis from other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications and Prognosis

Diagnosis

Diagnostic Study of Choice

History and Symptoms

Physical Examination

Laboratory Findings

Electrocardiogram

X-ray

Echocardiography and Ultrasound

CT scan

MRI

Other Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Surgery

Primary Prevention

Secondary Prevention

Cost-Effectiveness of Therapy

Future or Investigational Therapies

Case Studies

Case #1

Amyloidosis classification On the Web

Most recent articles

Most cited articles

Review articles

CME Programs

Powerpoint slides

Images

American Roentgen Ray Society Images of Amyloidosis classification

All Images
X-rays
Echo & Ultrasound
CT Images
MRI

Ongoing Trials at Clinical Trials.gov

US National Guidelines Clearinghouse

NICE Guidance

FDA on Amyloidosis classification

CDC on Amyloidosis classification

Amyloidosis classification in the news

Blogs on Amyloidosis classification

Directions to Hospitals Treating Psoriasis

Risk calculators and risk factors for Amyloidosis classification

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.

Template:WH Template:WS

ocrinology]]

Template:WH Template:WS

Retrieved from "https://www.wikidoc.org/index.php?title=Amyloidosis_classification&oldid=1591322"