Fabry's disease natural history, complications and prognosis: Difference between revisions
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== Natural History | ==Natural History {{Cite book}}{{Cite book}}[1]== | ||
__NOTOC__ | __NOTOC__ | ||
{{Fabry's disease}} | {{Fabry's disease}} | ||
==== 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, 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. | *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. | ||
==== 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. | *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. | ||
== Complications == | |||
* Common complications that can develop as a result of Fabry's disease are: | |||
** Heart problems including [[cardiomyopathy]], [[Cardiac arrhythmia|Arrhythmia]], [[Heart failure]] | |||
** [[Renal failure]] (ESRD) | |||
** [[Peripheral neuropathy]] | |||
** [[Stroke|Strokes]] (such as TIA) | |||
* 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. | |||
** '''[[Seroconversion]]:''' presents of [[Anti-body|anti-bodies]] may lower the efficacy of [[ERT]]. | |||
== Prognosis == | |||
<br /> | |||
==References== | ==References== | ||
[1] 1-903539-03-XFabry, Hermann, et al. Fabry disease : perspectives from 5 years of FOS. Oxford: PharmaGenesis, 2006. Print. | |||
[[Category:Needs content]] | [[Category:Needs content]] | ||
Revision as of 09:28, 4 April 2022
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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.
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.
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.
Prognosis
References
[1] 1-903539-03-XFabry, Hermann, et al. Fabry disease : perspectives from 5 years of FOS. Oxford: PharmaGenesis, 2006. Print.