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Diagnosis of Fabry disease via analysis of family history

Dawn A Laney1, Paul M Fernhoff

  • 1Emory Department of Human Genetics, 2165 North Decatur Road, Decatur, GA 30033, USA. dlaney@genetics.emory.edu

Journal of Genetic Counseling
|January 4, 2008
PubMed

Insights

Fabry disease diagnosis in a proband often reveals an average of five additional affected family members. This highlights the importance of genetic counseling and testing for relatives of Fabry patients.

Area of Science:

  • Genetics
  • Rare Diseases
  • Metabolic Disorders

Background:

  • Fabry disease is an X-linked lysosomal storage disorder.
  • It results from a deficiency of the enzyme alpha-galactosidase A.
  • Early diagnosis and intervention are crucial for managing Fabry disease.

Purpose of the Study:

  • To determine the average number of diagnosed family members per proband with Fabry disease.
  • To assess the familial aggregation of Fabry disease.
  • To emphasize the need for comprehensive family screening.

Main Methods:

  • Retrospective review of patient pedigrees from four US lysosomal storage disease centers.
  • Inclusion of data from three additional Fabry disease families submitted directly by patients.
  • Analysis of diagnosed family members in relation to probands.

Main Results:

  • A total of 74 probands (54 males, 20 females) were analyzed.
  • These probands had 357 diagnosed family members (223 females, 146 males).
  • On average, five family members were diagnosed with Fabry disease per proband.

Conclusions:

  • The findings underscore the significant familial transmission of Fabry disease.
  • Healthcare professionals must create detailed pedigrees for all Fabry patients.
  • Encouraging genetic testing for at-risk family members is essential, especially with enzyme replacement therapy (ERT) available.

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