Fabry's disease epidemiology and demographics: Difference between revisions
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* FD belong to a group of lysosomal storage diseases that are related biochemically but not genetically. | * FD belong to a group of lysosomal storage diseases that are related biochemically but not genetically. | ||
*FD pattern of inheritance is described as X linked recessive. Contrary to the misconception that females will be marginally affected given the X-chromosome linked inheritance pattern, many female heterozygotes develop symptoms early in their lifetime and develop severe organ failure as the disease progresses. | *FD pattern of inheritance is described as X linked recessive. Contrary to the misconception that females will be marginally affected given the X-chromosome linked inheritance pattern, many female heterozygotes develop symptoms early in their lifetime and develop severe organ failure as the disease progresses. | ||
* | *Incidences, ranging from 1 in 476,000 to 1 in 117,000 in the general population. More common in males than females. [1] | ||
* It seems plausible to describe FD as a disease with a wide spectrum of clinical phenotypes. This spectrum includes the classical type that is more severe and predominant in males and the less common asymptomatic or variant type seen in some women carriers of the disease that encompasses a variety of clinical presentations. | * It seems plausible to describe FD as a disease with a wide spectrum of clinical phenotypes. This spectrum includes the classical type that is more severe and predominant in males and the less common asymptomatic or variant type seen in some women carriers of the disease that encompasses a variety of clinical presentations. | ||
Revision as of 19:27, 17 August 2020
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Epidemiology and Demographics
- FD belong to a group of lysosomal storage diseases that are related biochemically but not genetically.
- FD pattern of inheritance is described as X linked recessive. Contrary to the misconception that females will be marginally affected given the X-chromosome linked inheritance pattern, many female heterozygotes develop symptoms early in their lifetime and develop severe organ failure as the disease progresses.
- Incidences, ranging from 1 in 476,000 to 1 in 117,000 in the general population. More common in males than females. [1]
- It seems plausible to describe FD as a disease with a wide spectrum of clinical phenotypes. This spectrum includes the classical type that is more severe and predominant in males and the less common asymptomatic or variant type seen in some women carriers of the disease that encompasses a variety of clinical presentations.
- FD is a rare genetic disease that is pan ethnic in origin i.e no particular ethnicity is more involved than the other.
- Various barriers prevent the early diagnosis and management of the disease. FD being a genetically acquired disease has its primary disease process starting in the fetal stage of development or during early infancy However in contrast to the many other lysosomal storage diseases that present early, most patients in FD remain clinically asymptomatic during their very first years of life. [2] Another barrier is the heterogeneous nature of the disease. The symptoms seen in FD resemble more common diseases and the major renal or cardiac dysfunction are usually uncommon in the pediatric patients and more commonly seen in adulthood further delaying the diagnosis of the disease.
References
[1] Migeon BR. X inactivation, female mosaicism, and sex differences in renal diseases. J Am Soc Nephrol. 2008;19:2052–2059. doi: 10.1681/ASN.2008020198
[2] Popli S, Leehey DJ, Molnar ZV, Nawab ZM, Ing TS. Demonstration of Fabry's disease deposits in placenta. Am J Obstet Gynecol. 1990;162:464–465.