We sought to determine the incidence of Fabry disease (FD) in young cryptogenic stroke patients who lived in the City of Edirne, Turkey, and to define the clinical features helping to recognize patients with FD.

Acute ischemic stroke patients aged 18 to 55 years who were admitted to our hospital between January 2017 and September 2019 were evaluated for inclusion. The screening was performed for α-galactosidase A activity on dried blood spot, and DNA was sequenced for GLA mutation in patients with low-plasma α-galactosidase A activity.

Two proband cases were detected. The first proband patient was identified as having a 427G>A (rs 104894845) (p.A143T) hemizygous mutation along with his family; 3 patients were identified as having the same hemizygous mutation; and 6 patients were identified as having the same heterozygous mutations. The second proband patient was identified as having a c.352C>T (rs 148158093) (p.R118C) heterozygote mutation along with her family; 5 patients were identified as having the same heterozygote mutation; and 1 patient was identified as having the same hemizygous mutation. Our study identified the FD incidence as 3.27%.

This research is just one of a few studies conducted on FD screening studies in Turkish stroke patients. Our results underlined the importance of considering FD during the etiologic evaluation of young cryptogenic stroke patients, as it is a rare but potentially treatable entity.