Amyloidosis: Difference between revisions
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== 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 1639, Nicolaus Fontanus [[Autopsy|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 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 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 1922, Bennhold introduced [[Congo red|Congo red staining]] of [[amyloid]] that remains the [[Gold standard (test)|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> | *In 1959, Cohen and Calkins used ultrathin sections of amyloidotic tissues and assessed by [[Electron microscope|electron microscopic]] examination, explained the presence of nonbranching [[Fibril|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 == | == Classification == | ||
| Line 23: | Line 23: | ||
!Clinical syndrome | !Clinical syndrome | ||
|- | |- | ||
|AL (primary amyloidosis) | |[[Primary amyloidosis|AL (primary amyloidosis)]] | ||
|Light chains of immunoglobulines (most common type) | |[[Light chain|Light chains]] of [[Immunoglobulin|immunoglobulines]] (most common type) | ||
|Monoclonal gammopathy | |[[Monoclonal gammopathy]] | ||
|- | |- | ||
|AA (secondary amyloidosis) | |[[AA amyloidosis|AA (secondary amyloidosis)]] | ||
|Serum amyloid A protein | |[[Serum amyloid A|Serum amyloid A protein]] | ||
|Chronic inflammatory diseases | |[[Chronic inflammation|Chronic inflammatory diseases]] | ||
|- | |- | ||
|AF | |AF | ||
|Mutant transthyretin, A1-apolipoprotein, gelsolin, fibrinogen, etc. | |Mutant [[transthyretin]], [[Apolipoprotein A1|A1-apolipoprotein,]] [[gelsolin]], [[fibrinogen]], etc. | ||
|Familial polyneuropathy/cardiomyopathy/nephropathy | |Familial [[polyneuropathy]]/[[cardiomyopathy]]/[[nephropathy]] | ||
|- | |- | ||
|ATTRwt | |ATTRwt | ||
|Wild-type transthyretin | |Wild-type [[transthyretin]] | ||
|Senile restrictive cardiomyopathy _ Transthyretin-related amyloidosis wild-type | |[[Senile]] [[restrictive cardiomyopathy]] _ [[Transthyretin]]-related amyloidosis wild-type | ||
|- | |- | ||
|AH | |AH | ||
|ß2-microglobulin | |ß2-microglobulin | ||
|Long-term hemodialysis | |Long-term [[hemodialysis]] | ||
|} | |} | ||
| Line 52: | Line 52: | ||
|- | |- | ||
| rowspan="3" |Systemic amyloidosis | | rowspan="3" |Systemic amyloidosis | ||
|Primary amyloidosis (AL) | |[[AL amyloidosis|Primary amyloidosis (AL)]] | ||
| | | | ||
* Aggregation and deposition of | * Aggregation and deposition of [[immunoglobulin]] [[Light chain|light chains]] that usually produced by [[plasma cell]] clones | ||
| | | | ||
* Nephrotic syndrome | * [[Nephrotic syndrome]] | ||
* Restrictive cardiomyopathy | * [[Restrictive cardiomyopathy]] | ||
* Peripheral neuropathy | * [[Peripheral neuropathy]] | ||
* Hepatomegaly with elevated liver enzymes | * [[Hepatomegaly]] with elevated [[liver enzymes]] | ||
* Macroglossia | * [[Macroglossia]] | ||
* Purpura and an unexplained bleeding diathesis | * [[Purpura]] and an unexplained [[Hemorrhagic diathesis|bleeding diathesis]] | ||
|- | |- | ||
|Secondary amyloidosis (AA) | |[[AA amyloidosis|Secondary amyloidosis (AA)]] | ||
| | | | ||
* Chronic [[inflammation]] (TB, familial mediterranean fever, rheumatoid arthritis and multiple myeloma) | * Chronic [[inflammation]] ([[Tuberculosis|TB]], [[familial mediterranean fever]], [[rheumatoid arthritis]] and [[multiple myeloma]]) | ||
| | | | ||
* Nephrotic syndrome | * [[Nephrotic syndrome]] | ||
* Heart failure | * [[Congestive heart failure|Heart failure]] | ||
|- | |- | ||
|Hereditary amyloidosis | |[[Heredity|Hereditary]] amyloidosis | ||
| | | | ||
* Amyloidogenic [[Mutation|mutations]] and subsequently deposition of [[Amyloid|amyloids]] | * Amyloidogenic [[Mutation|mutations]] and subsequently deposition of [[Amyloid|amyloids]] | ||
| | | | ||
* Heart failure | * [[Congestive heart failure|Heart failure]] | ||
* Arrhythmia | * [[Cardiac arrhythmia|Arrhythmia]] | ||
|- | |- | ||
| rowspan="5" |Organ-specific amyloidosis | | rowspan="5" |Organ-specific amyloidosis | ||
|[[Renal amyloidosis]] | |[[Renal amyloidosis]] | ||
| rowspan="5" | | | rowspan="5" | | ||
* Immunoglobulin light-chain amyloidosis | * [[AL amyloidosis|Immunoglobulin light-chain amyloidosis (AL amyloidosis)]] | ||
* Transthyretin-related amyloidosis (associated with familial/mutant or senile/wild-type TTR) | * [[Transthyretin-related hereditary amyloidosis|Transthyretin-related amyloidosis]] (associated with familial/mutant or senile/wild-type [[Transthyretin|TTR]]) | ||
| | | | ||
* Proteinuria | * [[Proteinuria]] | ||
* Nephrotic syndrome | * [[Nephrotic syndrome]] | ||
* Chronic renal failure | * [[Chronic renal failure]] | ||
|- | |- | ||
|[[Cardiac amyloidosis]] | |[[Cardiac amyloidosis]] | ||
| | | | ||
* Systolic dysfunction | * [[Systolic dysfunction]] | ||
* Diastolic dysfunction | * [[Diastolic dysfunction]] | ||
* | * [[Cardiac arrhythmia|Arrhythmia]] | ||
|- | |- | ||
|Hepatic amyloidosis | |[[Hepatic amyloidosis with intrahepatic cholestasis|Hepatic amyloidosis]] | ||
| | | | ||
* | * [[Hepatomegaly]] | ||
* Elevated liver enzymes | * Elevated [[liver enzymes]] | ||
|- | |- | ||
|Amyloid neuropathy | |Amyloid neuropathy | ||
| | | | ||
* Peripheral and autonomic neuropathy | * [[Peripheral neuropathy]] and [[autonomic neuropathy]] | ||
* Neurodegenerative disorders | * [[Neurodegenerative disease|Neurodegenerative disorders]] | ||
** Parkinson, Alzheimer, and Huntington disease | ** [[Parkinson's disease|Parkinson]], [[Alzheimer's disease|Alzheimer]], and [[Huntington's disease]] | ||
|- | |- | ||
|Gastrointestinal amyloidosis | |Gastrointestinal amyloidosis | ||
| | | | ||
* Nonspecific findings | * Nonspecific findings | ||
** Dyspepsia, abdominal pain, diarrhea, malabsorption | ** [[Dyspepsia]], [[abdominal pain]], [[diarrhea]], [[malabsorption]] | ||
|} | |} | ||
| Line 167: | Line 167: | ||
{{Metabolic pathology}} | {{Metabolic pathology}} | ||
[[Category:Medicine]] | [[Category:Medicine]] | ||
<references /> | <references /> | ||
Revision as of 17:12, 13 June 2018
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Amyloidosis Microchapters |
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Diagnosis |
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Treatment |
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Case Studies |
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Amyloidosis On the Web |
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American Roentgen Ray Society Images of Amyloidosis |
For patient information, click here
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Shaghayegh Habibi, M.D.[2]
Overview
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.[1]
- In 1854, Rudolph Virchow introduced the term of amyloid as an macroscopic abnormality in some tissues.[2]
- In 1867, Weber reported the first case of amyloidosis associated with multiple myeloma.[1]
- In 1922, Bennhold introduced Congo red staining of amyloid that remains the gold standard for diagnosis.[3]
- 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.[2][1]
Classification
Amyloidosis may be classified based on precursor of amyloidogenic protein into different subtypes, include:[4][5]
| 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 |
Amyloidosis also may classified by their organ involvement as below:[6][7]
| Classification | subtypes | Causes | Important clinical findings |
|---|---|---|---|
| Systemic amyloidosis | Primary amyloidosis (AL) |
|
|
| Secondary amyloidosis (AA) |
|
||
| Hereditary amyloidosis | |||
| Organ-specific amyloidosis | Renal amyloidosis |
|
|
| Cardiac amyloidosis | |||
| Hepatic amyloidosis |
| ||
| Amyloid neuropathy | |||
| Gastrointestinal amyloidosis |
|
Pathophysiology
- Amyloid is an abnormal insoluble extracellular protein that deposits in the different tissues and causes organic dysfunction and a wide variety of clinical syndromes.[8][9]
- These abnormal amyloids derived from misfolding and aggregation of normally soluble proteins.[10]
- Amyloid deposition can disrupt tissue structure of involved organ and consequently leads to organ failure.[11]
Systemic Amyloidosis
- In systemic amyloidosis, amyloid gradually accumulate and amyloid deposition is widespread in the viscera, blood vessel walls, and in the different connective tissues.[9][10]
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.[12]
- This type of amyloidosis most frequently involve the kidney (usually proteinuria with the nephrotic syndrome) and the heart.[13]
- In primary (AL) amyloidosis survival rate depends on:[14]
- 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.[15]
For more information about primary amyloidosis click here.
Secondary Amyloidosis (AA)
- Secondary amyloidosis is associated with chronic inflammation (such as tuberculosis or rheumatoid arthritis).[13]
- Secondary or reactive amyloidosis (AA) is approximately 45% of all systemic amyloidosis.[16]
- Pathogenesis of secondary or reactive amyloidosis is multifactorial that include:
- Primary structure of the precursor protein
- Acute phase response
- Nonfibril proteins (amyloid P component, apo E, GAGs, proteoglycans and basement membrane proteins)
- Receptors
- Lipid metabolism
- Proteases
For more information about secondary amyloidosis click here.
Hereditary Amyloidosis
- Hereditary (or familial) amyloidosis are autosomal dominant diseases that inherited variant proteins cause the production and deposition of amyloid fibrils.[13]
- Hereditary amyloidosis are due to amyloidogenic mutations and subsequently deposition of amyloids, include:[17]
- Transthyretin (TTR) (most common inherited mutation)
- Fibrinogen
- Apolipoprotein A1
- Apolipoprotein A2
- Lysozyme
- Gelsolin genes
Organ-specific Amyloidosis
- In this type of amyloidoses, amyloid deposition occurs only in the origin organ or tissue of precursor protein.[18]
- 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.
- Huntington's disease: intracellular protein deposition
- 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:[16][13]
- Typical green birefringence under polarized light after Congo red staining (appears in red under normal light)
- Linear non-branching fibrils (indefinite length with an approximately same diameter)
- Distinct X-ray diffraction pattern consistent with Pauling's model of a cross-beta fibril
Case Studies
- ↑ 1.0 1.1 1.2 Kyle RA (June 2011). "Amyloidosis: a brief history". Amyloid. 18 Suppl 1: 6–7. doi:10.3109/13506129.2011.574354001. PMID 21838413.
- ↑ 2.0 2.1 Sipe JD, Cohen AS (June 2000). "Review: history of the amyloid fibril". J. Struct. Biol. 130 (2–3): 88–98. doi:10.1006/jsbi.2000.4221. PMID 10940217.
- ↑ Khan MF, Falk RH (November 2001). "Amyloidosis". Postgrad Med J. 77 (913): 686–93. PMC 1742163. PMID 11677276.
- ↑ Real de Asúa D, Costa R, Galván JM, Filigheddu MT, Trujillo D, Cadiñanos J (2014). "Systemic AA amyloidosis: epidemiology, diagnosis, and management". Clin Epidemiol. 6: 369–77. doi:10.2147/CLEP.S39981. PMC 4218891. PMID 25378951.
- ↑ Misumi Y, Ando Y (July 2014). "[Classification of amyloidosis]". Brain Nerve (in Japanese). 66 (7): 731–7. PMID 24998818.
- ↑ Bilginer Y, Akpolat T, Ozen S (August 2011). "Renal amyloidosis in children". Pediatr. Nephrol. 26 (8): 1215–27. doi:10.1007/s00467-011-1797-x. PMC 3119800. PMID 21360109.
- ↑ 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.
- ↑ Gillmore JD, Hawkins PN (October 2013). "Pathophysiology and treatment of systemic amyloidosis". Nat Rev Nephrol. 9 (10): 574–86. doi:10.1038/nrneph.2013.171. PMID 23979488.
- ↑ 9.0 9.1 Baker KR, Rice L (2012). "The amyloidoses: clinical features, diagnosis and treatment". Methodist Debakey Cardiovasc J. 8 (3): 3–7. PMC 3487569. PMID 23227278.
- ↑ 10.0 10.1 Pepys MB (2006). "Amyloidosis". Annu. Rev. Med. 57: 223–41. doi:10.1146/annurev.med.57.121304.131243. PMID 16409147.
- ↑ Jerzykowska S, Cymerys M, Gil LA, Balcerzak A, Pupek-Musialik D, Komarnicki MA (2014). "Primary systemic amyloidosis as a real diagnostic challenge - case study". Cent Eur J Immunol. 39 (1): 61–6. doi:10.5114/ceji.2014.42126. PMC 4439975. PMID 26155101.
- ↑ 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 (August 2012). "Al amyloidosis". Orphanet J Rare Dis. 7: 54. doi:10.1186/1750-1172-7-54. PMC 3495844. PMID 22909024.
- ↑ 13.0 13.1 13.2 13.3 Khan MF, Falk RH (November 2001). "Amyloidosis". Postgrad Med J. 77 (913): 686–93. PMC 1742163. PMID 11677276.
- ↑ 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 (August 2012). "Al amyloidosis". Orphanet J Rare Dis. 7: 54. doi:10.1186/1750-1172-7-54. PMC 3495844. PMID 22909024.
- ↑ Merlini G, Seldin DC, Gertz MA (May 2011). "Amyloidosis: pathogenesis and new therapeutic options". J. Clin. Oncol. 29 (14): 1924–33. doi:10.1200/JCO.2010.32.2271. PMC 3138545. PMID 21483018.
- ↑ 16.0 16.1 Röcken C, Shakespeare A (February 2002). "Pathology, diagnosis and pathogenesis of AA amyloidosis". Virchows Arch. 440 (2): 111–122. doi:10.1007/s00428-001-0582-9. PMID 11964039.
- ↑ Mahmood S, Palladini G, Sanchorawala V, Wechalekar A (February 2014). "Update on treatment of light chain amyloidosis". Haematologica. 99 (2): 209–21. doi:10.3324/haematol.2013.087619. PMC 3912950. PMID 24497558.
- ↑ Blancas-Mejía LM, Ramirez-Alvarado M (2013). "Systemic amyloidoses". Annu. Rev. Biochem. 82: 745–74. doi:10.1146/annurev-biochem-072611-130030. PMC 4044913. PMID 23451869.