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Clin Neurol Neurosurg. 2007 Jul;109(6):479-84. Epub 2007 May 16.

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

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

Abstract

OBJECTIVE:

To assess the prevalence of Fabry disease in young patients with cryptogenic stroke.

PATIENTS AND METHODS:

We retrospectively assessed the prevalence of Fabry disease in patients aged 16-60 years that were admitted to ZNA Middelheim Hospital from January 1, 2000 to December 31, 2004 for cryptogenic stroke. We screened for Fabry disease by measurement of alpha-galactosidase A and beta-glucuronidase activity on blood spot. In all patients with abnormal enzymatic activity and in all female patients with low normal values, genetic sequencing of the alpha-GAL-gene was performed.

RESULTS:

In a population of 103 young patients with cryptogenic stroke that met the in- and exclusion criteria, we were unable to identify any patient with Fabry disease.

CONCLUSION:

Based on the results of alpha-galactosidase A and beta-glucuronidase activity, genetic sequencing and the low prevalence of clinical signs and symptoms of Fabry disease in this population, we believe that the true prevalence of Fabry disease in patients with cryptogenic stroke may be less than currently accepted in literature.

PMID:
17509753
[PubMed - indexed for MEDLINE]
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