Fabry's disease epidemiology and demographics: Difference between revisions

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Latest revision as of 10:28, 14 July 2022

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Ghazal Sanadgol, M.D.[2]

Overview

Fabry's disease is a rare condition with a prevalence of approximately 6:100,000 to 0.8:100,000 in men. This disease mostly affects men and has no rational disparities.

Epidemiology and Demographics

Prevalence

In 2021, the prevalence of Fabry's disease was estimated to be approximately 6:100,000 to 0.8:100,000 in men.
The prevalence of classic phenotype is estimated approximately 4.5:100,000 to 2.5:100,000 in men.
The prevalence of atypical phenotype is about 100:100,000 to 33:100,000 in men and 16:100,000 to 2.5:100,000 in females.^[1]

Incidence

Incidence of Fabry's disease is commonly underestimated.^[1]

Gender

Men are more commonly affected with Fabry's disease than females. The male to female ratio is approximately 2 to 1.^[1]

Race

The prevalence of Fabry's disease does not vary by race.^[1]

References

↑ ^1.0 ^1.1 ^1.2 ^1.3 "StatPearls". 2022. PMID 28613767.

[pmid28613767-1] 1.0 ^1.1 ^1.2 ^1.3 "StatPearls". 2022. PMID 28613767.

[1]

@@ Line 1: / Line 1: @@
+__NOTOC__
 {{Fabry's disease}}
-{{CMG}}
+{{CMG}} {{AE}} {{GhazalS}}
 ==Overview==
+[[Fabry's disease]] is a rare condition with a [[prevalence]] of approximately 6:100,000 to 0.8:100,000 in men. This disease mostly affects men and has no rational disparities.
 ==Epidemiology and Demographics==
-* FD belong to a group of lysosomal storage diseases that are related biochemically but not genetically.
+===Prevalence===
-*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.
+*In 2021, the [[prevalence]] of [[Fabry's disease|Fabry's]] disease was estimated to be approximately  6:100,000 to 0.8:100,000 in men.
-* FD is a rare genetic disease that is pan ethnic in origin i.e no particular ethnicity is more involved than the other.
+*The [[prevalence]] of classic [[phenotype]] is estimated approximately 4.5:100,000 to 2.5:100,000 in men.
-*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.
+*The [[prevalence]] of atypical [[phenotype]] is about 100:100,000 to 33:100,000 in men and 16:100,000 to 2.5:100,000 in females.<ref name="pmid28613767">{{cite journal| author=| title=StatPearls | journal= | year= 2022 | volume=  | issue=  | pages=  | pmid=28613767 | doi= | pmc= | url= }}</ref>
-*
-<br />
+===Incidence===
+*Incidence of [[Fabry's disease|Fabry's]] disease is commonly underestimated.<ref name="pmid28613767">{{cite journal| author=| title=StatPearls | journal= | year= 2022 | volume=  | issue=  | pages=  | pmid=28613767 | doi= | pmc= | url= }}</ref>
+===Gender===
+*Men are more commonly affected with [[Fabry's disease]] than females. The male to female ratio is approximately 2 to 1.<ref name="pmid28613767">{{cite journal| author=| title=StatPearls | journal= | year= 2022 | volume=  | issue=  | pages=  | pmid=28613767 | doi= | pmc= | url= }}</ref>
+===Race===
+*The [[prevalence]] of Fabry's disease does not vary by race.<ref name="pmid28613767">{{cite journal| author=| title=StatPearls | journal= | year= 2022 | volume=  | issue=  | pages=  | pmid=28613767 | doi= | pmc= | url= }}</ref>
 ==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
+{{Reflist|2}}
+[[Category:Needs english review]]
-[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.
-<references />