Familial amyloidosis natural history, complications and prognosis: Difference between revisions
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==Overview== | ==Overview== | ||
The [[symptoms]] of familial amyloidosis usually develop after 50 years of age in [[Transthyretin amyloidosis|TTR amyloidosis]] and late adulthood for other subtypes. In [[Patient|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 (anatomy)|organ]] involvement with [[Cardiac amyloidosis|amyloid heart disease]] have the worst [[prognosis]]. TTR amyloidosis [[patients]] have 60 months [[Survival rate|survival]] from presentation with [[heart failure]] [[Symptom|symptoms]]. | |||
==Natural History, Complications, and Prognosis== | ==Natural History, Complications, and Prognosis== | ||
===Natural History=== | ===Natural History=== | ||
*The symptoms of familial amyloidosis usually develop:<ref name="pmid1685359">{{cite journal |vauthors=Holmgren G, Steen L, Ekstedt J, Groth CG, Ericzon BG, Eriksson S, Andersen O, Karlberg I, Nordén G, Nakazato M |title=Biochemical effect of liver transplantation in two Swedish patients with familial amyloidotic polyneuropathy (FAP-met30) |journal=Clin. Genet. |volume=40 |issue=3 |pages=242–6 |date=September 1991 |pmid=1685359 |doi=10.1111/j.1399-0004.1991.tb03085.x |url=}}</ref><ref name="pmid9356442">{{cite journal |vauthors=Borhani DW, Rogers DP, Engler JA, Brouillette CG |title=Crystal structure of truncated human apolipoprotein A-I suggests a lipid-bound conformation |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=94 |issue=23 |pages=12291–6 |date=November 1997 |pmid=9356442 |pmc=24911 |doi=10.1073/pnas.94.23.12291 |url=}}</ref><ref name="pmid8464497">{{cite journal |vauthors=Pepys MB, Hawkins PN, Booth DR, Vigushin DM, Tennent GA, Soutar AK, Totty N, Nguyen O, Blake CC, Terry CJ |title=Human lysozyme gene mutations cause hereditary systemic amyloidosis |journal=Nature |volume=362 |issue=6420 |pages=553–7 |date=April 1993 |pmid=8464497 |doi=10.1038/362553a0 |url=}}</ref><ref name="pmid4655034">{{cite journal |vauthors=Gudmundsson G, Hallgrímsson J, Jónasson TA, Bjarnason O |title=Hereditary cerebral haemorrhage with amyloidosis |journal=Brain |volume=95 |issue=2 |pages=387–404 |date=1972 |pmid=4655034 |doi=10.1093/brain/95.2.387 |url=}}</ref><ref name="pmid3707586">{{cite journal |vauthors=Ghiso J, Pons-Estel B, Frangione B |title=Hereditary cerebral amyloid angiopathy: the amyloid fibrils contain a protein which is a variant of cystatin C, an inhibitor of lysosomal cysteine proteases |journal=Biochem. Biophys. Res. Commun. |volume=136 |issue=2 |pages=548–54 |date=April 1986 |pmid=3707586 |doi=10.1016/0006-291x(86)90475-4 |url=}}</ref><ref name="pmid8113408">{{cite journal |vauthors=Uemichi T, Liepnieks JJ, Benson MD |title=Hereditary renal amyloidosis with a novel variant fibrinogen |journal=J. Clin. Invest. |volume=93 |issue=2 |pages=731–6 |date=February 1994 |pmid=8113408 |pmc=293912 |doi=10.1172/JCI117027 |url=}}</ref><ref name="pmid11401442">{{cite journal |vauthors=Benson MD, Liepnieks JJ, Yazaki M, Yamashita T, Hamidi Asl K, Guenther B, Kluve-Beckerman B |title=A new human hereditary amyloidosis: the result of a stop-codon mutation in the apolipoprotein AII gene |journal=Genomics |volume=72 |issue=3 |pages=272–7 |date=March 2001 |pmid=11401442 |doi=10.1006/geno.2000.6499 |url=}}</ref> | *The [[symptoms]] of familial amyloidosis usually develop:<ref name="pmid1685359">{{cite journal |vauthors=Holmgren G, Steen L, Ekstedt J, Groth CG, Ericzon BG, Eriksson S, Andersen O, Karlberg I, Nordén G, Nakazato M |title=Biochemical effect of liver transplantation in two Swedish patients with familial amyloidotic polyneuropathy (FAP-met30) |journal=Clin. Genet. |volume=40 |issue=3 |pages=242–6 |date=September 1991 |pmid=1685359 |doi=10.1111/j.1399-0004.1991.tb03085.x |url=}}</ref><ref name="pmid9356442">{{cite journal |vauthors=Borhani DW, Rogers DP, Engler JA, Brouillette CG |title=Crystal structure of truncated human apolipoprotein A-I suggests a lipid-bound conformation |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=94 |issue=23 |pages=12291–6 |date=November 1997 |pmid=9356442 |pmc=24911 |doi=10.1073/pnas.94.23.12291 |url=}}</ref><ref name="pmid8464497">{{cite journal |vauthors=Pepys MB, Hawkins PN, Booth DR, Vigushin DM, Tennent GA, Soutar AK, Totty N, Nguyen O, Blake CC, Terry CJ |title=Human lysozyme gene mutations cause hereditary systemic amyloidosis |journal=Nature |volume=362 |issue=6420 |pages=553–7 |date=April 1993 |pmid=8464497 |doi=10.1038/362553a0 |url=}}</ref><ref name="pmid4655034">{{cite journal |vauthors=Gudmundsson G, Hallgrímsson J, Jónasson TA, Bjarnason O |title=Hereditary cerebral haemorrhage with amyloidosis |journal=Brain |volume=95 |issue=2 |pages=387–404 |date=1972 |pmid=4655034 |doi=10.1093/brain/95.2.387 |url=}}</ref><ref name="pmid3707586">{{cite journal |vauthors=Ghiso J, Pons-Estel B, Frangione B |title=Hereditary cerebral amyloid angiopathy: the amyloid fibrils contain a protein which is a variant of cystatin C, an inhibitor of lysosomal cysteine proteases |journal=Biochem. Biophys. Res. Commun. |volume=136 |issue=2 |pages=548–54 |date=April 1986 |pmid=3707586 |doi=10.1016/0006-291x(86)90475-4 |url=}}</ref><ref name="pmid8113408">{{cite journal |vauthors=Uemichi T, Liepnieks JJ, Benson MD |title=Hereditary renal amyloidosis with a novel variant fibrinogen |journal=J. Clin. Invest. |volume=93 |issue=2 |pages=731–6 |date=February 1994 |pmid=8113408 |pmc=293912 |doi=10.1172/JCI117027 |url=}}</ref><ref name="pmid11401442">{{cite journal |vauthors=Benson MD, Liepnieks JJ, Yazaki M, Yamashita T, Hamidi Asl K, Guenther B, Kluve-Beckerman B |title=A new human hereditary amyloidosis: the result of a stop-codon mutation in the apolipoprotein AII gene |journal=Genomics |volume=72 |issue=3 |pages=272–7 |date=March 2001 |pmid=11401442 |doi=10.1006/geno.2000.6499 |url=}}</ref> | ||
**[[Transthyretin|Transthyretin (TTR)]]: After 50 years of age | **[[Transthyretin|Transthyretin (TTR)]]: After 50 years of age | ||
** [[Apolipoprotein AI]]: Third decade and older | ** [[Apolipoprotein AI]]: Third decade and older | ||
| Line 19: | Line 21: | ||
===Complications=== | ===Complications=== | ||
*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> | *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> | ||
**[[Heart failure]] | **[[Heart failure]] | ||
**[[Nephrotic syndrome]] | **[[Nephrotic syndrome]] | ||
| Line 26: | Line 28: | ||
===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 involvement with amyloid heart disease have the worst prognosis. | *The [[prognosis]] varies based on the type of [[Organ (anatomy)|organ]] involvement with [[Cardiac amyloidosis|amyloid heart disease]] have the worst [[prognosis]]. | ||
*TTR amyloidosis patients have 60 months survival from presentation with heart failure symptoms. | *[[Transthyretin amyloidosis|TTR amyloidosis]] [[patients]] have 60 months [[Survival rate|survival]] from presentation with [[heart failure]] [[Symptom|symptoms]]. | ||
==References== | ==References== | ||
Revision as of 16:06, 21 November 2019
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
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 have the worst prognosis. TTR amyloidosis patients have 60 months survival from presentation with heart failure symptoms.
Natural History, Complications, and Prognosis
Natural History
- The symptoms of familial amyloidosis usually develop:[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 have 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.