Amyloidosis: Difference between revisions

Jump to navigation Jump to search
No edit summary
 
(31 intermediate revisions by 4 users not shown)
Line 4: Line 4:
'''For patient information, click [[Amyloidosis (patient information)|here]]'''
'''For patient information, click [[Amyloidosis (patient information)|here]]'''


{{CMG}}; {{AE}} {{SHH}}
{{CMG}}; {{AE}}{{Sab}}, {{HK}}, {{SHH}}
   
   
{{SK}}
==[[Amyloidosis overview|Overview]]==
==[[Amyloidosis overview|Overview]]==


== Historical Perspective ==
==[[Amyloidosis historical perspective|Historical Perspective]]==
*In 1639, Nicolaus Fontanus autopsied a young man who had ascites, jaundice, liver abscess and splenomegaly and his report has been the first description of amyloidosis.<ref name="pmid218384133">{{cite journal |vauthors=Kyle RA |title=Amyloidosis: a brief history |journal=Amyloid |volume=18 Suppl 1 |issue= |pages=6–7 |date=June 2011 |pmid=21838413 |doi=10.3109/13506129.2011.574354001 |url=}}</ref>
*In 1854, Rudolph Virchow introduced the term of amyloid as an macroscopic abnormality in some tissues.<ref name="pmid10940217">{{cite journal |vauthors=Sipe JD, Cohen AS |title=Review: history of the amyloid fibril |journal=J. Struct. Biol. |volume=130 |issue=2-3 |pages=88–98 |date=June 2000 |pmid=10940217 |doi=10.1006/jsbi.2000.4221 |url=}}</ref>
*In 1867, Weber reported the first case of amyloidosis associated with multiple myeloma.<ref name="pmid218384133">{{cite journal |vauthors=Kyle RA |title=Amyloidosis: a brief history |journal=Amyloid |volume=18 Suppl 1 |issue= |pages=6–7 |date=June 2011 |pmid=21838413 |doi=10.3109/13506129.2011.574354001 |url=}}</ref>
*In 1922, Bennhold introduced Congo red staining of amyloid that remains the gold standard for diagnosis.<ref name="pmid11677276">{{cite journal |vauthors=Khan MF, Falk RH |title=Amyloidosis |journal=Postgrad Med J |volume=77 |issue=913 |pages=686–93 |date=November 2001 |pmid=11677276 |pmc=1742163 |doi= |url=}}</ref>
*In 1959, Cohen and Calkins used ultrathin sections of amyloidotic tissues and assessed by electron microscopic examination, explained the presence of nonbranching fibrils with indeterminate length and variable width.<ref name="pmid10940217">{{cite journal |vauthors=Sipe JD, Cohen AS |title=Review: history of the amyloid fibril |journal=J. Struct. Biol. |volume=130 |issue=2-3 |pages=88–98 |date=June 2000 |pmid=10940217 |doi=10.1006/jsbi.2000.4221 |url=}}</ref><ref name="pmid218384133">{{cite journal |vauthors=Kyle RA |title=Amyloidosis: a brief history |journal=Amyloid |volume=18 Suppl 1 |issue= |pages=6–7 |date=June 2011 |pmid=21838413 |doi=10.3109/13506129.2011.574354001 |url=}}</ref>


== Classification ==
==[[Amyloidosis classification|Classification]]==


=== Amyloidosis may be classified based on [[precursor]] of amyloidogenic [[protein]] into different subtypes, include:<ref name="pmid25378951">{{cite journal |vauthors=Real de Asúa D, Costa R, Galván JM, Filigheddu MT, Trujillo D, Cadiñanos J |title=Systemic AA amyloidosis: epidemiology, diagnosis, and management |journal=Clin Epidemiol |volume=6 |issue= |pages=369–77 |date=2014 |pmid=25378951 |pmc=4218891 |doi=10.2147/CLEP.S39981 |url=}}</ref><ref name="pmid24998818">{{cite journal |vauthors=Misumi Y, Ando Y |title=[Classification of amyloidosis] |language=Japanese |journal=Brain Nerve |volume=66 |issue=7 |pages=731–7 |date=July 2014 |pmid=24998818 |doi= |url=}}</ref> ===
==[[Amyloidosis pathophysiology|Pathophysiology]]==
{| class="wikitable"
!Type
!Amyloidogenic protein/ fibril
!Clinical syndrome
|-
|AL (primary amyloidosis)
|Light chains of immunoglobulines (most common type)
|Monoclonal gammopathy
|-
|AA (secondary amyloidosis)
|Serum amyloid A protein
|Chronic inflammatory diseases
|-
|AF
|Mutant transthyretin, A1-apolipoprotein, gelsolin, fibrinogen, etc.
|Familial polyneuropathy/cardiomyopathy/nephropathy
|-
|ATTRwt
|Wild-type transthyretin
|Senile restrictive cardiomyopathy _ Transthyretin-related amyloidosis wild-type
|-
|AH
|ß2-microglobulin
|Long-term hemodialysis
|}


=== Amiloidosis also may classified by their organ involvement as below: ===
==[[Amyloidosis causes|Causes]]==
{| class="wikitable"
!Classification
!subtypes
!Causes
!Important clinical findings
|-
| rowspan="3" |Systemic amyloidosis
|Primary amyloidosis (AL)
|
* Aggregation and deposition of monoclonal immunoglobulin (Ig) light chains that usually produced by [[plasma cell]] clones
|
|-
|Secondary amyloidosis (AA)
|
* Chronic [[inflammation]] (such as tuberculosis, familial mediterranean fever, rheumatoid arthritis and multiple myeloma)
|
|-
|Hereditary amyloidosis
|
* Amyloidogenic [[Mutation|mutations]] and subsequently deposition of [[Amyloid|amyloids]]
|
|-
| rowspan="6" |Organ-specific amyloidosis
|[[Renal amyloidosis]]
| rowspan="6" |
* Immunoglobulin light-chain amyloidosis
* transthyretin-related amyloidosis (associated with familial/mutant or senile/wild-type TTR)
|
* Proteinuria
* Nephrotic syndrome


* Chronic renal failure
==[[Amyloidosis differential diagnosis|Differentiating Amyloidosis from other Diseases]]==
|-
|[[Cardiac amyloidosis]]
|
* Restrictive cardiomyopathy
* Conduction disturbances
|-
|Hepatic amyloidosis
|
|-
|[[Pulmonary amyloidosis]]
|
|-
|Amyloid neuropathy
|
|-
|Gastrointestinal amyloidosis
|
|}


==== Systemic amyloidosis ====
==[[Amyloidosis epidemiology and demographics|Epidemiology and Demographics]]==
* Primary amyloidosis (AL)
 
* Secondary amyloidosis (AA)
** Most common causes of secondary amyloidosis include:
*** Tuberculosis (50%)
*** Familial Mediterranean fever (26-40%)
*** Rheumatoid arthritis (20-25%)
*** Multiple myeloma (10-15%)
* Hereditary amyloidosis


==== Organ-specific amyloidosis ====
==[[Amyloidosis risk factors|Risk Factors]]==
Organ-specific amyloidosis may include:
* [[Renal amyloidosis]]
* [[Cardiac amyloidosis]]
* Hepatic amyloidosis
* [[Pulmonary amyloidosis]]
* Amyloid neuropathy 
* Gastrointestinal amyloidosis


== Pathophysiology ==
==[[Amyloidosis screening|Screening]]==
*[[Amyloid]] is an abnormal insoluble extracellular [[protein]] that deposits in the different tissues and causes organic dysfunction and a wide variety of clinical syndromes.<ref name="pmid23979488">{{cite journal |vauthors=Gillmore JD, Hawkins PN |title=Pathophysiology and treatment of systemic amyloidosis |journal=Nat Rev Nephrol |volume=9 |issue=10 |pages=574–86 |date=October 2013 |pmid=23979488 |doi=10.1038/nrneph.2013.171 |url=}}</ref><ref name="pmid23227278">{{cite journal |vauthors=Baker KR, Rice L |title=The amyloidoses: clinical features, diagnosis and treatment |journal=Methodist Debakey Cardiovasc J |volume=8 |issue=3 |pages=3–7 |date=2012 |pmid=23227278 |pmc=3487569 |doi= |url=}}</ref>
*These abnormal [[Amyloid|amyloids]] derived from misfolding and aggregation of normally soluble [[Protein|proteins]].<ref name="pmid16409147">{{cite journal |vauthors=Pepys MB |title=Amyloidosis |journal=Annu. Rev. Med. |volume=57 |issue= |pages=223–41 |date=2006 |pmid=16409147 |doi=10.1146/annurev.med.57.121304.131243 |url=}}</ref>
*[[Amyloid]] deposition can disrupt tissue structure of involved organ and consequently leads to organ failure.<ref name="pmid26155101">{{cite journal |vauthors=Jerzykowska S, Cymerys M, Gil LA, Balcerzak A, Pupek-Musialik D, Komarnicki MA |title=Primary systemic amyloidosis as a real diagnostic challenge - case study |journal=Cent Eur J Immunol |volume=39 |issue=1 |pages=61–6 |date=2014 |pmid=26155101 |pmc=4439975 |doi=10.5114/ceji.2014.42126 |url=}}</ref>
===Systemic Amyloidosis===
*In systemic amyloidosis, [[amyloid]] gradually accumulate and [[amyloid]] deposition is widespread in the viscera, [[blood vessel]] walls, and in the different [[Connective tissue|connective tissues]].<ref name="pmid23227278">{{cite journal |vauthors=Baker KR, Rice L |title=The amyloidoses: clinical features, diagnosis and treatment |journal=Methodist Debakey Cardiovasc J |volume=8 |issue=3 |pages=3–7 |date=2012 |pmid=23227278 |pmc=3487569 |doi= |url=}}</ref><ref name="pmid16409147">{{cite journal |vauthors=Pepys MB |title=Amyloidosis |journal=Annu. Rev. Med. |volume=57 |issue= |pages=223–41 |date=2006 |pmid=16409147 |doi=10.1146/annurev.med.57.121304.131243 |url=}}</ref>
====Primary Amyloidosis (AL)====
*Primary amyloidosis (AL amyloidosis) is the most common type of amyloidosis. It results from aggregation and deposition of monoclonal immunoglobulin (Ig) light chains that usually produced by [[plasma cell]] clones.
*Change in the secondary or tertiary structure of a monoclonal light chain results in abnormal folding of the light chain that abnormally form amyloid fibrils.<ref name="pmid22909024">{{cite journal |vauthors=Desport E, Bridoux F, Sirac C, Delbes S, Bender S, Fernandez B, Quellard N, Lacombe C, Goujon JM, Lavergne D, Abraham J, Touchard G, Fermand JP, Jaccard A |title=Al amyloidosis |journal=Orphanet J Rare Dis |volume=7 |issue= |pages=54 |date=August 2012 |pmid=22909024 |pmc=3495844 |doi=10.1186/1750-1172-7-54 |url=}}</ref>
*This type of amyloidosis most frequently involve the kidney (usually proteinuria with the nephrotic syndrome) and the heart.<ref name="pmid116772762">{{cite journal |vauthors=Khan MF, Falk RH |title=Amyloidosis |journal=Postgrad Med J |volume=77 |issue=913 |pages=686–93 |date=November 2001 |pmid=11677276 |pmc=1742163 |doi= |url=}}</ref>
*In primary (AL) amyloidosis survival rate depends on:<ref name="pmid229090242">{{cite journal |vauthors=Desport E, Bridoux F, Sirac C, Delbes S, Bender S, Fernandez B, Quellard N, Lacombe C, Goujon JM, Lavergne D, Abraham J, Touchard G, Fermand JP, Jaccard A |title=Al amyloidosis |journal=Orphanet J Rare Dis |volume=7 |issue= |pages=54 |date=August 2012 |pmid=22909024 |pmc=3495844 |doi=10.1186/1750-1172-7-54 |url=}}</ref>
**Type of organ involvement (amyloid heart disease is the main prognostic factor)
**The severity of different organs involvement
**Haematological response to treatment
*The median survival of patients with AL amyloidosis is aproximately 3.8 years.<ref name="pmid21483018">{{cite journal |vauthors=Merlini G, Seldin DC, Gertz MA |title=Amyloidosis: pathogenesis and new therapeutic options |journal=J. Clin. Oncol. |volume=29 |issue=14 |pages=1924–33 |date=May 2011 |pmid=21483018 |pmc=3138545 |doi=10.1200/JCO.2010.32.2271 |url=}}</ref>
For more information about primary amyloidosis click [[AL amyloidosis|'''here''']].


====Secondary Amyloidosis (AA)====
==[[Amyloidosis natural history, complications and prognosis|Natural History, Complications and Prognosis]]==
*Secondary amyloidosis is associated with chronic [[inflammation]] (such as tuberculosis or rheumatoid arthritis).<ref name="pmid116772762">{{cite journal |vauthors=Khan MF, Falk RH |title=Amyloidosis |journal=Postgrad Med J |volume=77 |issue=913 |pages=686–93 |date=November 2001 |pmid=11677276 |pmc=1742163 |doi= |url=}}</ref>
*Secondary or reactive amyloidosis (AA) is approximately 45% of all systemic amyloidosis.<ref name="pmid119640392">{{cite journal |vauthors=Röcken C, Shakespeare A |title=Pathology, diagnosis and pathogenesis of AA amyloidosis |journal=Virchows Arch. |volume=440 |issue=2 |pages=111–122 |date=February 2002 |pmid=11964039 |doi=10.1007/s00428-001-0582-9 |url=}}</ref>
*[[Pathogenesis]] of secondary or reactive amyloidosis is multifactorial that include:
**Primary structure of the precursor protein
**Acute phase response
**Nonfibril [[Protein|proteins]] (amyloid P component, [[Apolipoprotein E|apo E]], [[Glycosaminoglycan|GAGs]], [[Proteoglycan|proteoglycans]] and [[basement membrane]] [[Protein|proteins]])
**[[Receptor (biochemistry)|Receptors]]
**[[Lipid metabolism]]
**[[Protease|Proteases]]
For more information about secondary amyloidosis click '''[[AA amyloidosis|here]]'''.


====Hereditary Amyloidosis====
==Diagnosis==
*Hereditary (or familial) amyloidosis are autosomal dominant diseases that inherited variant proteins cause the production and deposition of amyloid fibrils.<ref name="pmid116772762">{{cite journal |vauthors=Khan MF, Falk RH |title=Amyloidosis |journal=Postgrad Med J |volume=77 |issue=913 |pages=686–93 |date=November 2001 |pmid=11677276 |pmc=1742163 |doi= |url=}}</ref>
[[Amyloidosis diagnostic study of choice|Diagnostic study of choice]] | [[Amyloidosis history and symptoms|History and Symptoms]] | [[Amyloidosis physical examination|Physical Examination]] | [[Amyloidosis laboratory findings|Laboratory Findings]] | [[Amyloidosis electrocardiogram|Electrocardiogram]] | [[Amyloidosis x ray|X-ray]] | [[Amyloidosis echocardiography and ultrasound|Echocardiography and Ultrasound]] | [[Amyloidosis CT scan|CT scan]] | [[Amyloidosis MRI|MRI]] | [[Amyloidosis other imaging findings|Other Imaging Findings]] | [[Amyloidosis other diagnostic studies|Other Diagnostic Studies]]
*Hereditary amyloidosis are due to amyloidogenic [[Mutation|mutations]] and subsequently deposition of [[Amyloid|amyloids]], include:<ref name="pmid24497558">{{cite journal |vauthors=Mahmood S, Palladini G, Sanchorawala V, Wechalekar A |title=Update on treatment of light chain amyloidosis |journal=Haematologica |volume=99 |issue=2 |pages=209–21 |date=February 2014 |pmid=24497558 |pmc=3912950 |doi=10.3324/haematol.2013.087619 |url=}}</ref>
**[[Transthyretin|Transthyretin (TTR)]] (most common inherited mutation)
**[[Fibrinogen]]
**[[Apolipoprotein A1]]
**[[Apolipoprotein A2]]
**[[Lysozyme]]
**Gelsolin [[Gene|genes]]
===Organ-specific Amyloidosis===
*In this type of amyloidoses, amyloid deposition occurs only in the origin organ or tissue of precursor protein.<ref name="pmid23451869">{{cite journal |vauthors=Blancas-Mejía LM, Ramirez-Alvarado M |title=Systemic amyloidoses |journal=Annu. Rev. Biochem. |volume=82 |issue= |pages=745–74 |date=2013 |pmid=23451869 |pmc=4044913 |doi=10.1146/annurev-biochem-072611-130030 |url=}}</ref>
*Some neurodegenerative disorders such as Parkinson disease, Alzheimer, and Huntington disease may occur in localized amyloidosis.


*Localized amyloidoses can accure due to deposition of intracellular and/or extracellular amyloid.
==Treatment==
**Huntington's disease: intracellular protein deposition
[[Amyloidosis medical therapy|Medical Therapy]] | [[Amyloidosis surgery|Surgery]] | [[Amyloidosis primary prevention|Primary Prevention]] | [[Amyloidosis secondary prevention|Secondary Prevention]] | [[Amyloidosis cost-effectiveness of therapy|Cost-Effectiveness of Therapy]] | [[Amyloidosis future or investigational therapies|Future or Investigational Therapies]]
**Parkinson's disease: intracellular protein deposition
**Alzheimer's disease: intracellular (Tau protein fibrils) and extracellular (amyloid β fibrils) deposition
===Microscopic Pathology===
In microscopy pathology of amyloidosis, [[amyloid]] is detectable as:<ref name="pmid119640392">{{cite journal |vauthors=Röcken C, Shakespeare A |title=Pathology, diagnosis and pathogenesis of AA amyloidosis |journal=Virchows Arch. |volume=440 |issue=2 |pages=111–122 |date=February 2002 |pmid=11964039 |doi=10.1007/s00428-001-0582-9 |url=}}</ref><ref name="pmid116772762">{{cite journal |vauthors=Khan MF, Falk RH |title=Amyloidosis |journal=Postgrad Med J |volume=77 |issue=913 |pages=686–93 |date=November 2001 |pmid=11677276 |pmc=1742163 |doi= |url=}}</ref>
*Typical green [[birefringence]] under [[Polarization|polarized]] light after [[Congo red]] staining (appears in red under normal light)
*Linear non-branching [[Fibril|fibrils]] (indefinite length with an approximately same diameter)
*Distinct X-ray diffraction pattern consistent with Pauling's model of a cross-beta fibril
==[[Amyloidosis epidemiology and demographics|Epidemiology and Demographics]]==


==Case Studies==
==Case Studies==
[[Amyloidosis case study one|Case #1]]
[[Amyloidosis case study one|Case #1]]


{{Metabolic pathology}}
[[Category:Disease]]
 
[[Category:Cardiology]]
 
[[Category:Pulmonology]]
{{WikiDoc Help Menu}}
[[Category:Immunology]]
{{WikiDoc Sources}}
 
[[Category:Medicine]]
<references />

Latest revision as of 20:03, 5 February 2020

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 On the Web

Most recent articles

Most cited articles

Review articles

CME Programs

Powerpoint slides

Images

American Roentgen Ray Society Images of Amyloidosis

All Images
X-rays
Echo & Ultrasound
CT Images
MRI

Ongoing Trials at Clinical Trials.gov

US National Guidelines Clearinghouse

NICE Guidance

FDA on Amyloidosis

CDC on Amyloidosis

Amyloidosis in the news

Blogs on Amyloidosis

Directions to Hospitals Treating Psoriasis

Risk calculators and risk factors for Amyloidosis

For patient information, click here

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Sabawoon Mirwais, M.B.B.S, M.D.[2], Syed Hassan A. Kazmi BSc, MD [3], Shaghayegh Habibi, M.D.[4]

Synonyms and keywords:

Overview

Historical Perspective

Classification

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