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| '''For patient information, click [[Amyloidosis (patient information)|here]]''' | | '''For patient information, click [[Amyloidosis (patient information)|here]]''' |
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| {{CMG}}; {{AE}} {{SHH}} | | {{CMG}}; {{AE}}{{Sab}}, {{HK}}, {{SHH}} |
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| ==Overview==
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| == Historical Perspective == | | ==[[Amyloidosis overview|Overview]]== |
| *In 1639, Nicolaus Fontanus [[Autopsy|autopsied]] a young man who had [[ascites|ascitis]], [[jaundice]], [[liver abscess]] and [[splenomegaly]] and his report has been the first description of amyloidosis.
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| *In 1854, Rudolph Virchow introduced the term of [[amyloid]] as an macroscopic abnormality in some tissues.
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| *In 1867, Weber reported the first case of amyloidosis associated with [[multiple myeloma]].
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| *In 1922, Bennhold introduced [[Congo red|Congo red staining]] of [[amyloid]] that remains the [[Gold standard (test)|gold standard]] for [[diagnosis]].
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| *In 1959, Cohen and Calkins used ultra-thin sections of amyloidotic tissues and assessed by [[Electron microscope|electron microscopic]] examination, explained the presence of non-branching [[Fibril|fibrils]] with indeterminate length and variable width.<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>
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| == PClassification == | | ==[[Amyloidosis historical perspective|Historical Perspective]]== |
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| === Amyloidosis may be classified based on [[precursor]] of amyloidogenic [[protein]] into different subtypes, include: === | | ==[[Amyloidosis classification|Classification]]== |
| {| class="wikitable"
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| ! align="center" style="background:#4479BA; color: #FFFFFF;" + |Type
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| ! align="center" style="background:#4479BA; color: #FFFFFF;" + |Amyloidogenic protein/ fibril
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| ! align="center" style="background:#4479BA; color: #FFFFFF;" + |Clinical syndrome
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| | style="background:#DCDCDC;" |[[Primary amyloidosis|'''AL (primary amyloidosis)''']]
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| |[[Light chain|Light chains]] of [[Immunoglobulin|immunoglobulines]] (most common type)
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| |[[Monoclonal gammopathy]]
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| | style="background:#DCDCDC;" |[[AA amyloidosis|'''AA (secondary amyloidosis)''']]
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| |[[Serum amyloid A|Serum amyloid A protein]]
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| |[[Chronic inflammation|Chronic inflammatory diseases]]
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| | style="background:#DCDCDC;" |'''AF'''
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| |Mutant [[transthyretin]], [[Apolipoprotein A1|A1-apolipoprotein,]] [[gelsolin]], [[fibrinogen]], etc.
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| |Familial [[polyneuropathy]]/[[cardiomyopathy]]/[[nephropathy]]
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| | style="background:#DCDCDC;" |'''ATTRwt'''
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| |Wild-type [[transthyretin]]
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| |[[Senile]] [[restrictive cardiomyopathy]] _ [[Transthyretin]]-related amyloidosis wild-type
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| | style="background:#DCDCDC;" |'''AH'''
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| |ß2-microglobulin
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| |Long-term [[hemodialysis]]
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| |}
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| === Amyloidosis also may classified by their extension of organ involvement as below: === | | ==[[Amyloidosis pathophysiology|Pathophysiology]]== |
| {| class="wikitable"
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| ! align="center" style="background:#4479BA; color: #FFFFFF;" + |Classification
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| ! align="center" style="background:#4479BA; color: #FFFFFF;" + |subtypes
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| ! align="center" style="background:#4479BA; color: #FFFFFF;" + |Causes
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| ! align="center" style="background:#4479BA; color: #FFFFFF;" + |Important clinical findings
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| ! rowspan="3" style="background:#DCDCDC;" |Systemic amyloidosis
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| ! style="background:#DCDCDC;" |[[AL amyloidosis|Primary amyloidosis (AL)]]
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| * Aggregation and deposition of [[immunoglobulin]] [[Light chain|light chains]] that usually produced by [[plasma cell]] clones
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| * [[Nephrotic syndrome]]
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| * [[Restrictive cardiomyopathy]]
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| * [[Peripheral neuropathy]]
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| * [[Hepatomegaly]] with elevated [[liver enzymes]]
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| * [[Macroglossia]]
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| * [[Purpura]] and an unexplained [[Hemorrhagic diathesis|bleeding diathesis]]
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| ! style="background:#DCDCDC;" |[[AA amyloidosis|Secondary amyloidosis (AA)]]
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| * Chronic [[inflammation]] ([[Tuberculosis|TB]], [[familial mediterranean fever]], [[rheumatoid arthritis]] and [[multiple myeloma]])
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| * [[Nephrotic syndrome]]
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| * [[Congestive heart failure|Heart failure]]
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| ! style="background:#DCDCDC;" |[[Heredity|Hereditary]] amyloidosis
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| * Amyloidogenic [[Mutation|mutations]] and subsequently deposition of [[Amyloid|amyloids]]
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| * [[Congestive heart failure|Heart failure]]
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| * [[Cardiac arrhythmia|Arrhythmia]]
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| ! rowspan="5" style="background:#DCDCDC;" |Organ-specific amyloidosis
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| ! style="background:#DCDCDC;" |[[Renal amyloidosis]]
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| | rowspan="5" |
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| * [[AL amyloidosis|Immunoglobulin light-chain amyloidosis (AL amyloidosis)]]
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| * [[Transthyretin-related hereditary amyloidosis|Transthyretin-related amyloidosis]] (associated with familial/mutant or senile/wild-type [[Transthyretin|TTR]])
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| * [[Proteinuria]]
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| * [[Nephrotic syndrome]]
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| * [[Chronic renal failure]]
| | ==[[Amyloidosis causes|Causes]]== |
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| ! style="background:#DCDCDC;" |[[Cardiac amyloidosis]]
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| * [[Systolic dysfunction]]
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| * [[Diastolic dysfunction]]
| | ==[[Amyloidosis differential diagnosis|Differentiating Amyloidosis from other Diseases]]== |
| * [[Cardiac arrhythmia|Arrhythmia]]
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| ! style="background:#DCDCDC;" |[[Hepatic amyloidosis with intrahepatic cholestasis|Hepatic amyloidosis]]
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| * [[Hepatomegaly]]
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| * Elevated [[liver enzymes]]
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| ! style="background:#DCDCDC;" |Amyloid neuropathy
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| * [[Peripheral neuropathy]] and [[autonomic neuropathy]]
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| * [[Neurodegenerative disease|Neurodegenerative disorders]]
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| ** [[Parkinson's disease|Parkinson]], [[Alzheimer's disease|Alzheimer]], and [[Huntington's disease]]
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| ! style="background:#DCDCDC;" |Gastrointestinal amyloidosis
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| * Nonspecific findings
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| ** [[Dyspepsia]], [[abdominal pain]], [[diarrhea]], [[malabsorption]]
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| |}
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| | ==[[Amyloidosis epidemiology and demographics|Epidemiology and Demographics]]== |
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| | ==[[Amyloidosis risk factors|Risk Factors]]== |
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| == Natural History, Complications and Prognosis == | | ==[[Amyloidosis screening|Screening]]== |
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| *In amyloidosis, insoluble fibrils of amyloid are deposited in body organs, causing organ dysfunction and eventually death.<ref name="pmid232272782">{{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>
| | ==[[Amyloidosis natural history, complications and prognosis|Natural History, Complications and Prognosis]]== |
| *In AL amyloidosis untreated individuals have the worst prognosis. In this group of patients median survival is one to two years.<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>
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| In patients with amyloidosis the most frequent complications include:<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>
| | ==Diagnosis== |
| | [[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]] |
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| *Heart failure
| | ==Treatment== |
| *Nephrotic syndrome
| | [[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]] |
| *Hepatomegaly
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| *Peripheral neuropathy
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| In primary (AL) amyloidosis survival rate depends on:<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>
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| *Type of organ involvement (amyloid heart disease is the main prognostic factor)
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| *The severity of different organs involvement
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| * Haematological response to treatment
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| *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>
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| *In primary (AL) amyloidosis 27% of patients dying within 1 year from diagnosis.
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| * The major determinant of outcome in amyloidosis is the extent of cardiac involvement.
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| **Cardiac amyloidosis is the cause of death in 75% of the patients who died, including sudden death in 25%.
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| ==Case Studies== | | ==Case Studies== |
| [[Amyloidosis case study one|Case #1]] | | [[Amyloidosis case study one|Case #1]] |
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| [[Category:Medicine]] | | [[Category:Disease]] |
| [[Category:Up-To-Date]] | | [[Category:Cardiology]] |
| <references />
| | [[Category:Pulmonology]] |
| | [[Category:Immunology]] |