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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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| ==[[Amyloidosis overview|Overview]]== | | ==[[Amyloidosis overview|Overview]]== |
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| == 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>
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| *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>
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| *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>
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| *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>
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| *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>
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| == Classification == | | ==[[Amyloidosis classification|Classification]]== |
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| === 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"
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| !Type
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| !Amyloidogenic protein/ fibril
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| !Clinical syndrome
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| |AL (primary amyloidosis)
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| |Light chains of immunoglobulines (most common type)
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| |Monoclonal gammopathy
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| |-
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| |AA (secondary amyloidosis)
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| |Serum amyloid A protein
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| |Chronic inflammatory diseases
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| |AF
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| |Mutant transthyretin, A1-apolipoprotein, gelsolin, fibrinogen, etc.
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| |Familial polyneuropathy/cardiomyopathy/nephropathy
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| |-
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| |ATTRwt
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| |Wild-type transthyretin
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| |Senile restrictive cardiomyopathy _ Transthyretin-related amyloidosis wild-type
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| |-
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| |AH
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| |ß2-microglobulin
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| |Long-term hemodialysis
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| |}
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| === Amiloidosis also may classified by their organ involvement as below: === | | ==[[Amyloidosis causes|Causes]]== |
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| ==== Systemic amyloidosis ==== | | ==[[Amyloidosis differential diagnosis|Differentiating Amyloidosis from other Diseases]]== |
| * Primary amyloidosis (AL)
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| * Secondary amyloidosis (AA)
| | ==[[Amyloidosis epidemiology and demographics|Epidemiology and Demographics]]== |
| ** Most common causes of secondary amyloidosis include:
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| *** Tuberculosis (50%)
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| *** Familial Mediterranean fever (26-40%)
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| *** Rheumatoid arthritis (20-25%)
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| *** Multiple myeloma (10-15%)
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| * Hereditary amyloidosis
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| ==== Organ-specific amyloidosis ==== | | ==[[Amyloidosis risk factors|Risk Factors]]== |
| * Renal amyloidosis
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| * Cardiac amyloidosis
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| * Hepatic amyloidosis
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| * Pulmonary amyloidosis
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| == 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>
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| *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>
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| *[[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>
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| ===Systemic Amyloidosis===
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| *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>
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| ====Primary Amyloidosis (AL)====
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| *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.
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| *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>
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| *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>
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| ====Secondary Amyloidosis (AA)====
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| *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>
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| *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>
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| *[[Pathogenesis]] of secondary or reactive amyloidosis is multifactorial that include:
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| **Primary structure of the precursor protein
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| **Acute phase response
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| **Nonfibril [[Protein|proteins]] (amyloid P component, [[Apolipoprotein E|apo E]], [[Glycosaminoglycan|GAGs]], [[Proteoglycan|proteoglycans]] and [[basement membrane]] [[Protein|proteins]])
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| **[[Receptor (biochemistry)|Receptors]]
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| **[[Lipid metabolism]]
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| **[[Protease|Proteases]]
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| ====Hereditary Amyloidosis====
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| *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>
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| *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>
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| **[[Transthyretin|Transthyretin (TTR)]] (most common inherited mutation)
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| **[[Fibrinogen]]
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| **[[Apolipoprotein A1]]
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| **[[Apolipoprotein A2]]
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| **[[Lysozyme]]
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| **Gelsolin [[Gene|genes]]
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| ===Organ-specific Amyloidosis===
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| *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>
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| *Some neurodegenerative disorders such as Parkinson disease, Alzheimer, and Huntington disease may occur in localized amyloidosis.
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| *Localized amyloidoses can accure due to deposition of intracellular and/or extracellular amyloid.
| | ==[[Amyloidosis natural history, complications and prognosis|Natural History, Complications and Prognosis]]== |
| **Huntington's disease: intracellular protein deposition
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| **Parkinson's disease: intracellular protein deposition
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| **Alzheimer's disease: intracellular (Tau protein fibrils) and extracellular (amyloid β fibrils) deposition
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| ===Microscopic Pathology===
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| 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>
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| *Typical green [[birefringence]] under [[Polarization|polarized]] light after [[Congo red]] staining (appears in red under normal light)
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| *Linear non-branching [[Fibril|fibrils]] (indefinite length with an approximately same diameter)
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| *Distinct X-ray diffraction pattern consistent with Pauling's model of a cross-beta fibril
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| ==[[Amyloidosis causes|Causes]]==
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| ==[[Amyloidosis epidemiology and demographics|Epidemiology and Demographics]]==
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| ==Complications== | | ==Diagnosis== |
| In patients with amyloidosis the most frequent complications include:<ref name="pmid261551012">{{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>
| | [[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]] |
| *Heart failure
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| *Nephrotic syndrome
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| *Hepatomegaly
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| *Peripheral neuropathy
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| == Prognosis == | | ==Treatment== |
| *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>
| | [[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]] |
| **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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