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Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study

Arndt Rolfs1, Tobias Böttcher, Marlies Zschiesche

  • 1Department of Neurology, University of Rostock, Rostock, Germany. arndt.rolfs@med.uni-rostock.de

Lancet (London, England)
|November 22, 2005
PubMed

Insights

Fabry disease is a significant, often unrecognized cause of stroke in young adults. Screening for this genetic condition is crucial for unexplained stroke cases, particularly those involving the vertebrobasilar artery system.

Area of Science:

  • Neurology
  • Genetics
  • Vascular Medicine

Background:

  • Strokes are a leading cause of death and disability in young adults, with causes often remaining unknown.
  • Anderson-Fabry disease, an X-linked genetic disorder, can lead to endothelial vasculopathy and cerebral ischemia.
  • Unrecognized Fabry disease may contribute to a substantial portion of cryptogenic strokes in younger populations.

Purpose of the Study:

  • To investigate the prevalence of undiagnosed Fabry disease in a cohort of young adult patients presenting with acute cryptogenic stroke.
  • To assess the clinical significance of Fabry disease mutations in the context of cerebrovascular events.

Main Methods:

  • Screened 721 German patients aged 18-55 with acute cryptogenic stroke between 2001 and 2004.
  • Measured plasma alpha-galactosidase activity in men, followed by alpha-GAL gene sequencing for low enzyme activity.
  • Genetically screened the alpha-GAL gene for mutations in women, irrespective of enzyme activity levels.

Main Results:

  • Identified biologically significant mutations in the alpha-GAL gene in 4.9% of male (21/432) and 2.4% of female (7/289) stroke patients.
  • The mean age of stroke onset was 38.4 years for men and 40.3 years for women.
  • Observed a higher incidence of vertebrobasilar artery infarctions and dolichoectatic vascular changes in patients with Fabry disease mutations.

Conclusions:

  • Fabry disease is a frequent underlying cause of cryptogenic stroke in young adults, accounting for approximately 1.2% of cases.
  • Consideration of Fabry disease is essential for all young patients with unexplained strokes.
  • Specific attention should be given to patients presenting with vertebrobasilar artery system infarctions and proteinuria, as these may indicate Fabry disease.
Abstract

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