AISYF: Argentinean Initiative of Stroke in the Young and Fabry Disease (FD)

REISIN R; AISYF RESEARCH GROUP; SÁNCHEZ LUCEROS A

San Diego

Congreso; 65th American Academy of Neurology Annual Meeting; 2013

American Academy of Neurology

OBJECTIVE: To evaluate the clinical characteristics of stroke in young adults in Argentina and to identify the frequency of FD in this population. BACKGROUND: 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. DESIGN/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. RESULTS: Since January 2011, 127 patients were enrolled (67 men, 60 women: mean age: 44 years). Ischemic strokes (IS) occurred in 117 (92%) patients (infarcts 84%, TIA 8%) and hemorraghic strokes in 10 (8%) patients. Stroke subtypes were: large artery disease 17%, cardioembolism 9%, small – artery occlusion 12%, other defined etiology 24%, undetermined etiology 38%. Cardiovascular risk factors for IS were: hypertension 45%, diabetes 14%, hyperlipidemia 37%, smoking 34% and obesity 25%. Enzymatic studies for FD were normal and genetic studies in females are being completed. One patient had an antiphospholipid syndrome and a second presented homozygous factor V Leiden. No other relevant thrombophilic factors were found. CONCLUSIONS: Although FD was not yet identified in our cohort its early recognition in young patients with stroke is essential for appropiate treatment. Despite extensive investigations stroke of undetermined etiology remains a frequent challenge in young patients.