Ischemic stroke in young adults and genetic thrombophilic mutations- a case series

Background: Inherited thrombophilia is an increased predisposition to thrombosis related to protein gene mutations in the coagulation process. The literature contains no solid evidence to support an important relationship between the other thrombophilic defects reviewed and the risk of arterial thrombosis. The aim of our case series was to determine the relationship between ischemic stroke and genetic thrombophilic mutations in young adults. Methods: The study was performed at the Department of Neurology, Osijek University Hospital Center, Osijek, Croatia during 1 year. In 19 ischemic stroke patients (10 males and 9 females) aged less than 50 years we tested genetic markers for thrombophilia (Factor V Leiden, Factor II Prothrombin, Plasminogen Activator Inhibitor-1 (PAI-1), Methylene tetrahydrofolate Reductase (MTHFR)). We used Oxford Classification of Stroke. Results: We found a gene mutation for PAI-1 in all of our patients, compared to 12 patients with the MTHFR enzyme mutation and only one patient with Factor V Leiden mutation (none with Factor II mutation). In 17 patients we detected an increased serum level of total or LDL-cholesterol and/or cigarette smoking. Mean age for stroke occurrence was 40.7 years (43 for females and 38.6 for males). In 7 patients only with PAI-1 mutation stroke occurred at mean age of 43.1 years, compared to earlier stroke occurrence (at mean of 39.2 years) in patients with both PAI-1 and MTHFR mutations. Male patients had an usual pattern of territorial distribution of stroke, while female patients had more strokes in the posterior cerebral circulation area. Conclusion: We found in young adult patients with ischemic stroke a greater proportion of PAI-1 gene mutation (100%) than other mutations of genetic markers for thrombophilia. Territorial distribution of ischemic stroke in young female patients with thrombophilic gene mutations may indicate a predilection for the impairment of posterior brain circulation.