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.


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.


CONCLUSIONS
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.
Brouns
Raf
R
Department of Neurology and Memory Clinic, ZNA Middelheim General Hospital, Antwerp, Belgium.
Sheorajpanday
Rishi
R
Braxel
Ellen
E
Eyskens
François
F
Baker
Robert
R
Hughes
Derralynn
D
Mehta
Atul
A
Timmerman
Therese
T
Vincent
Marie-Françoise
MF
De Deyn
Peter Paul
PP
D000293:Adolescent; D000328:Adult; D001530:Belgium; D002544:Cerebral Infarction / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics; D003430:Cross-Sectional Studies; D000795:Fabry Disease / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics; D005260:Female; D005820:Genetic Testing; D005966:Glucuronidase / Q000097:blood / Q000235:genetics; D006801:Humans; D002546:Ischemic Attack, Transient / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics; D008297:Male; D008875:Middle Aged; D012189:Retrospective Studies; D012307:Risk Factors; D017422:Sequence Analysis, DNA; D013223:Statistics as Topic; D000519:alpha-Galactosidase / Q000097:blood / Q000235:genetics
D000519:alpha-Galactosidase; D005966:Glucuronidase