Familial amyloidosis natural history, complications and prognosis: Difference between revisions
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** [[Gelsolin]]: Late adulthood | ** [[Gelsolin]]: Late adulthood | ||
** [[Cystatin C]]: Third to fourth decade | ** [[Cystatin C]]: Third to fourth decade | ||
*In amyloidosis, insoluble fibrils of [[amyloid]] are deposited in the 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> | *In amyloidosis, insoluble fibrils of [[amyloid]] are deposited in the [[Organ (anatomy)|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> | ||
===Complications=== | ===Complications=== | ||
*In patients with familial 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> | *In [[Patient|patients]] with familial amyloidosis, the most frequent [[Complication (medicine)|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> | ||
**[[Heart failure]] | **[[Heart failure]] | ||
**[[Nephrotic syndrome]] | **[[Nephrotic syndrome]] | ||
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===Prognosis=== | ===Prognosis=== | ||
*[[Prognosis]] is generally poor.<ref name="pmid19752327">{{cite journal |vauthors=Rapezzi C, Merlini G, Quarta CC, Riva L, Longhi S, Leone O, Salvi F, Ciliberti P, Pastorelli F, Biagini E, Coccolo F, Cooke RM, Bacchi-Reggiani L, Sangiorgi D, Ferlini A, Cavo M, Zamagni E, Fonte ML, Palladini G, Salinaro F, Musca F, Obici L, Branzi A, Perlini S |title=Systemic cardiac amyloidoses: disease profiles and clinical courses of the 3 main types |journal=Circulation |volume=120 |issue=13 |pages=1203–12 |date=September 2009 |pmid=19752327 |doi=10.1161/CIRCULATIONAHA.108.843334 |url=}}</ref> | *[[Prognosis]] is generally poor.<ref name="pmid19752327">{{cite journal |vauthors=Rapezzi C, Merlini G, Quarta CC, Riva L, Longhi S, Leone O, Salvi F, Ciliberti P, Pastorelli F, Biagini E, Coccolo F, Cooke RM, Bacchi-Reggiani L, Sangiorgi D, Ferlini A, Cavo M, Zamagni E, Fonte ML, Palladini G, Salinaro F, Musca F, Obici L, Branzi A, Perlini S |title=Systemic cardiac amyloidoses: disease profiles and clinical courses of the 3 main types |journal=Circulation |volume=120 |issue=13 |pages=1203–12 |date=September 2009 |pmid=19752327 |doi=10.1161/CIRCULATIONAHA.108.843334 |url=}}</ref> | ||
*The [[prognosis]] varies based on the type of [[Organ (anatomy)|organ]] involvement with [[Cardiac amyloidosis|amyloid heart disease]] | *The [[prognosis]] varies based on the type of [[Organ (anatomy)|organ]] involvement with [[Cardiac amyloidosis|amyloid heart disease]] having the worst [[prognosis]]. | ||
*[[Transthyretin amyloidosis|TTR amyloidosis]] [[patients]] have 60 months [[Survival rate|survival]] from presentation with [[heart failure]] [[Symptom|symptoms]]. | *[[Transthyretin amyloidosis|TTR amyloidosis]] [[patients]] have 60 months [[Survival rate|survival]] from presentation with [[heart failure]] [[Symptom|symptoms]]. | ||
Latest revision as of 19:40, 7 February 2020
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Fahimeh Shojaei, M.D.
Overview
The symptoms of familial amyloidosis usually develop after 50 years of age in TTR amyloidosis and late adulthood for other subtypes. In patients with familial amyloidosis, the most frequent complications include heart failure, nephrotic syndrome, hepatomegaly, and peripheral neuropathy. Prognosis is generally poor. The prognosis varies based on the type of organ involvement with amyloid heart disease having the worst prognosis. TTR amyloidosis patients have 60 months survival from presentation with heart failure symptoms.
Natural History, Complications, and Prognosis
Natural History
- The time at which symptoms of familial amyloidosis usually develop depends on the type of protein involved:[1][2][3][4][5][6][7]
- Transthyretin (TTR): After 50 years of age
- Apolipoprotein AI: Third decade and older
- Apolipoprotein AII: Early adulthood
- Fibrinogen Aa: Fourth to fifth decade
- Lysozyme: Third to fourth decade
- Gelsolin: Late adulthood
- Cystatin C: Third to fourth decade
- In amyloidosis, insoluble fibrils of amyloid are deposited in the organs, causing organ dysfunction and eventually death.[8]
Complications
- In patients with familial amyloidosis, the most frequent complications include:[9]
Prognosis
- Prognosis is generally poor.[10]
- The prognosis varies based on the type of organ involvement with amyloid heart disease having the worst prognosis.
- TTR amyloidosis patients have 60 months survival from presentation with heart failure symptoms.
References
- ↑ Holmgren G, Steen L, Ekstedt J, Groth CG, Ericzon BG, Eriksson S, Andersen O, Karlberg I, Nordén G, Nakazato M (September 1991). "Biochemical effect of liver transplantation in two Swedish patients with familial amyloidotic polyneuropathy (FAP-met30)". Clin. Genet. 40 (3): 242–6. doi:10.1111/j.1399-0004.1991.tb03085.x. PMID 1685359.
- ↑ Borhani DW, Rogers DP, Engler JA, Brouillette CG (November 1997). "Crystal structure of truncated human apolipoprotein A-I suggests a lipid-bound conformation". Proc. Natl. Acad. Sci. U.S.A. 94 (23): 12291–6. doi:10.1073/pnas.94.23.12291. PMC 24911. PMID 9356442.
- ↑ Pepys MB, Hawkins PN, Booth DR, Vigushin DM, Tennent GA, Soutar AK, Totty N, Nguyen O, Blake CC, Terry CJ (April 1993). "Human lysozyme gene mutations cause hereditary systemic amyloidosis". Nature. 362 (6420): 553–7. doi:10.1038/362553a0. PMID 8464497.
- ↑ Gudmundsson G, Hallgrímsson J, Jónasson TA, Bjarnason O (1972). "Hereditary cerebral haemorrhage with amyloidosis". Brain. 95 (2): 387–404. doi:10.1093/brain/95.2.387. PMID 4655034.
- ↑ Ghiso J, Pons-Estel B, Frangione B (April 1986). "Hereditary cerebral amyloid angiopathy: the amyloid fibrils contain a protein which is a variant of cystatin C, an inhibitor of lysosomal cysteine proteases". Biochem. Biophys. Res. Commun. 136 (2): 548–54. doi:10.1016/0006-291x(86)90475-4. PMID 3707586.
- ↑ Uemichi T, Liepnieks JJ, Benson MD (February 1994). "Hereditary renal amyloidosis with a novel variant fibrinogen". J. Clin. Invest. 93 (2): 731–6. doi:10.1172/JCI117027. PMC 293912. PMID 8113408.
- ↑ Benson MD, Liepnieks JJ, Yazaki M, Yamashita T, Hamidi Asl K, Guenther B, Kluve-Beckerman B (March 2001). "A new human hereditary amyloidosis: the result of a stop-codon mutation in the apolipoprotein AII gene". Genomics. 72 (3): 272–7. doi:10.1006/geno.2000.6499. PMID 11401442.
- ↑ Baker KR, Rice L (2012). "The amyloidoses: clinical features, diagnosis and treatment". Methodist Debakey Cardiovasc J. 8 (3): 3–7. PMC 3487569. PMID 23227278.
- ↑ 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.
- ↑ Rapezzi C, Merlini G, Quarta CC, Riva L, Longhi S, Leone O, Salvi F, Ciliberti P, Pastorelli F, Biagini E, Coccolo F, Cooke RM, Bacchi-Reggiani L, Sangiorgi D, Ferlini A, Cavo M, Zamagni E, Fonte ML, Palladini G, Salinaro F, Musca F, Obici L, Branzi A, Perlini S (September 2009). "Systemic cardiac amyloidoses: disease profiles and clinical courses of the 3 main types". Circulation. 120 (13): 1203–12. doi:10.1161/CIRCULATIONAHA.108.843334. PMID 19752327.