AISYF: ARGENTINEAN INITIATIVE OF STROKE IN THE YOUNG AND FABRY DISEASE (FD)

AISYF RESEARCH GROUP; SÁNCHEZ LUCEROS A

Buenos Aires

Congreso; Congreso Latinoamericano de Enfermedades Lisosomales COLATEL 2013; 2013

COLATEL

Introduction Up to 10% of all strokes occur in young patients, causing great morbidity and mortality in this group. One third of CVA remain cryptogenic despite extensive evaluation. FD is as an underdiagnosed etiology of stroke in the young, but the frequency of this association is still controversial. There are not registries of young patients with stroke in Argentina and therefore the frequency of FD in this population has never been investigated. Objective To evaluate the clinical characteristics of stroke in young adults in Argentina and to identify the frequency of FD in this population. Methods This is a prospective, multicentric study of stroke and FD in young adults (18-55 years) in Argentina. Patients included, presented their stroke within 180 days. Stroke subtype was classified based on TOAST criteria. FD was diagnosed by measurement of alpha-galactosidase-A activity (males) and genetic studies were performed in all females and males with altered enzyme activity. A thrombophilia panel was performed in 75 patients. Conclusions FD was identified in 0,79% of our cohort and as our patient demonstrated it can be associated with other etiologies of stroke in the same patient. Early recognition is essential for appropriate treatment. Classical risk factors were highly prevalent in our population emphasizing the need for vigorous primary and secondary prevention measures.