Fabry's disease epidemiology and demographics: Difference between revisions

Jump to navigation Jump to search
← Older editNewer edit →
VisualWikitext
Ghsanadgol (talk | contribs)
226 edits
Line 5: Line 5:
==Overview==
==Overview==


==Epidemiology and Demographics==
==Epidemiology and Demographics<ref name="pmid28613767">{{cite journal| author=| title=StatPearls | journal= | year= 2022 | volume=  | issue=  | pages=  | pmid=28613767 | doi= | pmc= | url= }}</ref>==


* 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.
* 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. 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.[2]
*


<br />
* In 2021, the prevalence of Fabry's disease was estimated to be approximately  1:17,000 to 1:117,000 in men.
* The prevalence of Classic phenotype is estimated approximately 1:22,000 to 1:40,000 in men.
* The prevalence of atypical phenotype is about 1:1000 to 1:3000 in men and 1:6000 to 1:40,000 in females.
 
=== Incidence ===
 
* Incidence of Fabry's disease is commonly underestimated.
 
=== Gender ===
 
* Men are more commonly affected with Fabry's disease than females. The male to female ratio is approximately 2 to 1.
 
=== Race ===
 
* The prevalence of Fabry's disease does not vary by race.


==References==
==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
<br />
 
[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 />
<references />

Revision as of 09:18, 2 April 2022

Fabry's disease Microchapters

Home

Patient Information

Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Fabry's disease from other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications and Prognosis

Diagnosis

History and Symptoms

Physical Examination

Laboratory Findings

Electrocardiogram

CT

MRI

Echocardiography or Ultrasound

Other Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Surgery

Primary Prevention

Secondary Prevention

Cost-Effectiveness of Therapy

Future or Investigational Therapies

Case Studies

Case #1

Fabry's disease epidemiology and demographics On the Web

Most recent articles

Most cited articles

Review articles

CME Programs

Powerpoint slides

Images

American Roentgen Ray Society Images of Fabry's disease epidemiology and demographics

All Images
X-rays
Echo & Ultrasound
CT Images
MRI

Ongoing Trials at Clinical Trials.gov

US National Guidelines Clearinghouse

NICE Guidance

FDA on Fabry's disease epidemiology and demographics

CDC on Fabry's disease epidemiology and demographics

Fabry's disease epidemiology and demographics in the news

Blogs on Fabry's disease epidemiology and demographics

Directions to Hospitals Treating Fabry's disease

Risk calculators and risk factors for Fabry's disease epidemiology and demographics

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Overview

Epidemiology and Demographics[1]

Prevalence

  • In 2021, the prevalence of Fabry's disease was estimated to be approximately 1:17,000 to 1:117,000 in men.
  • The prevalence of Classic phenotype is estimated approximately 1:22,000 to 1:40,000 in men.
  • The prevalence of atypical phenotype is about 1:1000 to 1:3000 in men and 1:6000 to 1:40,000 in females.

Incidence

  • Incidence of Fabry's disease is commonly underestimated.

Gender

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

Race

  • The prevalence of Fabry's disease does not vary by race.

References


  1. ↑ "StatPearls". 2022. PMID 28613767.
Retrieved from "https://www.wikidoc.org/index.php?title=Fabry%27s_disease_epidemiology_and_demographics&oldid=1721803"