Fabry's disease natural history, complications and prognosis: Difference between revisions
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==Overview== | ==Overview== | ||
If Fabry's disease leaves untreated it can lead to end-stage renal disease (ESRD), [[cardiomyopathy]], and [[stroke]] which are the main causes of death in these patients. Enzyme replacement therapy (ERT) treatment has an important role in their life expectancy and disease complications. | If [[Fabry's disease]] leaves untreated it can lead to [[end-stage renal disease]] (ESRD), [[cardiomyopathy]], and [[stroke]] which are the main causes of death in these patients. [[Enzyme replacement therapy]] (ERT) treatment has an important role in their life expectancy and disease complications. | ||
==Natural History== | ==Natural History== | ||
====Homozygotes==== | ====Homozygotes==== | ||
*The symptoms of classic Fabry's disease usually develop in childhood or adolescents , and start with symptoms such as neuropathic pains, angiokeratomas, dyshidrosis, GI symptoms, and etc. | *The symptoms of classic [[Fabry's disease]] usually develop in childhood or adolescents , and start with symptoms such as [[neuropathic]] pains, [[Angiokeratoma|angiokeratomas]], [[dyshidrosis]], [[GI]] symptoms, and etc. | ||
*Without treatment, lifespan of homozygote men will dramatically reduced to fifth decade and the main causes of deaths are renal failure, heart disease or stroke.<ref name="pmid21290671">{{cite journal| author=Mehta A, Beck M, Sunder-Plassmann G| title=Fabry Disease: Perspectives from 5 Years of FOS | journal= | year= 2006 | volume= | issue= | pages= | pmid=21290671 | doi= | pmc= | url= }}</ref> | *Without treatment, lifespan of [[homozygote]] men will dramatically reduced to fifth decade and the main causes of deaths are [[renal failure]], [[heart disease]] or [[stroke]].<ref name="pmid21290671">{{cite journal| author=Mehta A, Beck M, Sunder-Plassmann G| title=Fabry Disease: Perspectives from 5 Years of FOS | journal= | year= 2006 | volume= | issue= | pages= | pmid=21290671 | doi= | pmc= | url= }}</ref> | ||
====Heterozygote==== | ====Heterozygote==== | ||
*The symptoms of late-onset Fabry's disease in females and atypical variants are accrue in higher ages and are less severe. | *The symptoms of late-onset [[Fabry's disease]] in females and atypical variants are accrue in higher ages and are less severe. | ||
*With out treatment, life span of heterozygote females will be at seventh decade and the main causes of death are cardiac dysfunction, cancer and stroke. {{Cite book}}{{Cite book}}<ref name="pmid212906712">{{cite journal| author=Mehta A, Beck M, Sunder-Plassmann G| title=Fabry Disease: Perspectives from 5 Years of FOS | journal= | year= 2006 | volume= | issue= | pages= | pmid=21290671 | doi= | pmc= | url= }}</ref> | *With out treatment, life span of [[heterozygote]] females will be at seventh decade and the main causes of death are [[cardiac dysfunction]], [[cancer]] and [[stroke]]. {{Cite book}}{{Cite book}}<ref name="pmid212906712">{{cite journal| author=Mehta A, Beck M, Sunder-Plassmann G| title=Fabry Disease: Perspectives from 5 Years of FOS | journal= | year= 2006 | volume= | issue= | pages= | pmid=21290671 | doi= | pmc= | url= }}</ref> | ||
==Complications== | ==Complications== | ||
*Common complications that can develop as a result of Fabry's disease are: | *Common complications that can develop as a result of [[Fabry's disease]] are: | ||
**Heart problems including [[cardiomyopathy]], [[Cardiac arrhythmia|Arrhythmia]], [[Heart failure]] | **Heart problems including [[cardiomyopathy]], [[Cardiac arrhythmia|Arrhythmia]], [[Heart failure]] | ||
**[[Renal failure]] (ESRD) | **[[Renal failure]] ([[ESRD]]) | ||
**[[Peripheral neuropathy]] | **[[Peripheral neuropathy]] | ||
**[[Stroke|Strokes]] (such as TIA) | **[[Stroke|Strokes]] (such as TIA) | ||
*Complications that can develop as a result of the treatment of Fabry's disease with enzyme replacement therapy are: | *Complications that can develop as a result of the treatment of Fabry's disease with [[enzyme replacement therapy]] are: | ||
**'''[[Infusion reaction|Infusion reactions]]:''' [[Rigor|rigors]], [[fever]], etc. | **'''[[Infusion reaction|Infusion reactions]]:''' [[Rigor|rigors]], [[fever]], etc. | ||
**'''[[Seroconversion]]:''' presents of [[Anti-body|anti-bodies]] may lower the efficacy of [[ERT]].<ref name="pmid212906713">{{cite journal| author=Mehta A, Beck M, Sunder-Plassmann G| title=Fabry Disease: Perspectives from 5 Years of FOS | journal= | year= 2006 | volume= | issue= | pages= | pmid=21290671 | doi= | pmc= | url= }}</ref> | **'''[[Seroconversion]]:''' presents of [[Anti-body|anti-bodies]] may lower the efficacy of [[ERT]].<ref name="pmid212906713">{{cite journal| author=Mehta A, Beck M, Sunder-Plassmann G| title=Fabry Disease: Perspectives from 5 Years of FOS | journal= | year= 2006 | volume= | issue= | pages= | pmid=21290671 | doi= | pmc= | url= }}</ref> | ||
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==Prognosis== | ==Prognosis== | ||
*The prognosis of Fabry's disease improves with treatment. Without treatment, Fabry's disease will result in reduced life expectancy.<ref name="pmid28975091">{{cite journal| author=Jamboti J, Forrest CH| title=Fabry disease; early diagnosis improves prognosis but diagnosis is often delayed. | journal=J Nephropathol | year= 2017 | volume= 6 | issue= 3 | pages= 130-133 | pmid=28975091 | doi=10.15171/jnp.2017.22 | pmc=5607972 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=28975091 }}</ref><br /> | *The prognosis of [[Fabry's disease]] improves with treatment. Without treatment, Fabry's disease will result in reduced life expectancy.<ref name="pmid28975091">{{cite journal| author=Jamboti J, Forrest CH| title=Fabry disease; early diagnosis improves prognosis but diagnosis is often delayed. | journal=J Nephropathol | year= 2017 | volume= 6 | issue= 3 | pages= 130-133 | pmid=28975091 | doi=10.15171/jnp.2017.22 | pmc=5607972 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=28975091 }}</ref><br /> | ||
==References== | ==References== | ||
Revision as of 19:39, 23 May 2022
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief:
Overview
If Fabry's disease leaves untreated it can lead to end-stage renal disease (ESRD), cardiomyopathy, and stroke which are the main causes of death in these patients. Enzyme replacement therapy (ERT) treatment has an important role in their life expectancy and disease complications.
Natural History
Homozygotes
- The symptoms of classic Fabry's disease usually develop in childhood or adolescents , and start with symptoms such as neuropathic pains, angiokeratomas, dyshidrosis, GI symptoms, and etc.
- Without treatment, lifespan of homozygote men will dramatically reduced to fifth decade and the main causes of deaths are renal failure, heart disease or stroke.[1]
Heterozygote
- The symptoms of late-onset Fabry's disease in females and atypical variants are accrue in higher ages and are less severe.
- With out treatment, life span of heterozygote females will be at seventh decade and the main causes of death are cardiac dysfunction, cancer and stroke. Empty citation (help)Empty citation (help)[2]
Complications
- Common complications that can develop as a result of Fabry's disease are:
- Heart problems including cardiomyopathy, Arrhythmia, Heart failure
- Renal failure (ESRD)
- Peripheral neuropathy
- Strokes (such as TIA)
- Complications that can develop as a result of the treatment of Fabry's disease with enzyme replacement therapy are:
- Infusion reactions: rigors, fever, etc.
- Seroconversion: presents of anti-bodies may lower the efficacy of ERT.[3]
Prognosis
- The prognosis of Fabry's disease improves with treatment. Without treatment, Fabry's disease will result in reduced life expectancy.[4]
References
- ↑ Mehta A, Beck M, Sunder-Plassmann G (2006). "Fabry Disease: Perspectives from 5 Years of FOS". PMID 21290671.
- ↑ Mehta A, Beck M, Sunder-Plassmann G (2006). "Fabry Disease: Perspectives from 5 Years of FOS". PMID 21290671.
- ↑ Mehta A, Beck M, Sunder-Plassmann G (2006). "Fabry Disease: Perspectives from 5 Years of FOS". PMID 21290671.
- ↑ Jamboti J, Forrest CH (2017). "Fabry disease; early diagnosis improves prognosis but diagnosis is often delayed". J Nephropathol. 6 (3): 130–133. doi:10.15171/jnp.2017.22. PMC 5607972. PMID 28975091.