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

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 α-galactosidase A and β-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 α-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 α-galactosidase A and β-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.