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Middelheim Fabry Study (MiFaS): a retrospective Belgian study on the prevalence of Fabry disease in young patients

Raf Brouns1, Rishi Sheorajpanday, Ellen Braxel

  • 1Department of Neurology and Memory Clinic, ZNA Middelheim General Hospital, Antwerp, Belgium.

Clinical Neurology and Neurosurgery
|May 19, 2007
PubMed
Abstract

Insights

This study found no cases of Fabry disease in 103 young patients with cryptogenic stroke. The prevalence of Fabry disease in this population may be lower than previously thought.

Area of Science:

  • Neurology
  • Genetics
  • Rare Diseases

Background:

  • Cryptogenic stroke affects young individuals.
  • Fabry disease is a rare genetic disorder.
  • Previous literature suggests a higher prevalence of Fabry disease in cryptogenic stroke patients.

Purpose of the Study:

  • To determine the prevalence of Fabry disease in young patients presenting with cryptogenic stroke.
  • To evaluate the utility of enzyme activity and genetic testing in this population.

Main Methods:

  • Retrospective analysis of 103 patients (aged 16-60) with cryptogenic stroke.
  • Screening for Fabry disease via alpha-galactosidase A and beta-glucuronidase activity assays.
  • Genetic sequencing of the alpha-GAL gene for patients with abnormal or low-normal enzyme activity.

Main Results:

  • No patients with Fabry disease were identified among the 103 participants.
  • Enzyme activity and genetic testing did not reveal any cases.

Conclusions:

  • The prevalence of Fabry disease in young patients with cryptogenic stroke appears to be lower than previously reported.
  • Current diagnostic approaches may overestimate the prevalence in this specific demographic.

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