Zurich Fabry study - prevalence of Fabry disease in young patients with first cryptogenic ischaemic stroke or TIA.
OBJECTIVE
The etiology of stroke in young patients remains undetermined in up to half of the cases. Data on prevalence of Fabry disease (FD) in young people with cryptogenic ischaemic stroke are limited and controversial. We aimed to evaluate the frequency of unrecognized FD in a cohort of stroke patients at a tertiary stroke center.


METHODS
Patients suffering from first cryptogenic ischaemic stroke or transient ischaemic attack (TIA) at the age of 18-55 years were screened for the presence of FD. We measured the serum activity of α-galactosidase (α-GAL) in all patients. In addition, sequencing of α-GAL gene was performed in men with low enzyme activity and in all women.


RESULTS
Between January, 2006, and October, 2009, we recruited 150 patients (102 men, 48 women) with a mean age of 43 ± 9 years at symptom onset (135 ischaemic stroke, 15 TIA). The α-GAL activity was low in nine patients (6%; six men and three women). Genetic sequencing in six men with low enzyme activity and all 48 women detected no α-GAL gene mutation.


CONCLUSIONS
Our study suggests that the yield of screening for FD in patients with first cryptogenic ischaemic stroke or TIA is very low. Further large-scale studies are needed to investigate the importance of FD amongst patients with recurrent cryptogenic strokes.
Department of Neurology, University Hospital of Zürich, Zurich, Switzerland. hakan.sarikaya@usz.ch
H
H
Sarikaya
M
M
Yilmaz
N
N
Michael
A R
AR
Miserez
B
B
Steinmann
R W
RW
Baumgartner
D000293:Adolescent; D000328:Adult; D000795:Fabry Disease / Q000150:complications* / Q000453:epidemiology*; D005260:Female; D006801:Humans; D002546:Ischemic Attack, Transient / Q000209:etiology*; D008297:Male; D008875:Middle Aged; D015995:Prevalence; D020521:Stroke / Q000209:etiology*; D013557:Switzerland / Q000453:epidemiology; D055815:Young Adult; D000519:alpha-Galactosidase / Q000032:analysis / Q000097:blood / Q000235:genetics
C576330:GLA protein, human; D000519:alpha-Galactosidase