Inherited thrombophilia as a risk factor for the development of ischemic stroke in young adults

Introduction, Several recent studies have analyzed a possible effect of thr ombophilia risk factors such as factor V Leiden, the prothrombin variant (a llele 20210 A), and homozygosity for thermolabile methylenetetrahydrofolate reductase (MTHFR-T) on the development of ischemic stroke (IS). In the pre sent study, we determined the role of these prothrombotic polymorphisms in the early onset of arterial IS or cerebral venous thrombosis (CVT) in a gro up of young Brazilian adults of Caucasian and African descent. Materials an d Methods. We conducted a cross-sectional study of 167 survivors of IS (153 patients with arterial IS and 14 cases of CVT, 66 men: 101 women; 124 of C aucasian and 43 of African origin. median age: 32.6 years; range: 15 to 45 years) and compared the prevalence of inherited thrombophilia risk factors with a control group of 225 sex and age matched individuals of the same eth nic background. To determine the interaction with atherogenic risk factors, the following diagnoses were considered: hypertension, hyperlipoproteinemi a, diabetes mellitus, smoking status and use of oral contraceptives. Result s. In the arterial IS group, no significant variation was found between pat ients and controls of Caucasian origin regarding the prevalence of factor V Leiden (P = 0.92), the prothrombin variant (P = 0.13) or homozygosity for MTHFR-T (P = 0.61). Among Brazilians of African descent. 10.3% were homozyg ous for MTHFR-T, which was significantly elevated, odds ratio of 5.9 (95% C I: 0.88 to 49.15). In the CVT group, two Caucasian patients (20%) were hete rozygous for the prothrombin variant, odds ratio of 9.7 (95% CI: 0.95 to 89 .71) and one patient was carrier of factor V Leiden (P = 0.49). No prothrom botic polymorphism was identified in patients with CVT of African descent. All women in the CVT group were in use of oral contraceptives or in the pos t-partum state. Discussion. Inherited thrombophilia risk factors were not f ound to increase the risk of arterial IS among young patients of Caucasian descent. However, a potential role of homozygosity for MTHFR-T was observed in a small group of patients of African origin. The analysis of patients w ith CVT revealed an increased risk due to the prothrombin gene variant or o ral contraceptive use. Further studies including all incoming patients with IS are necessary to evaluate the impact of inherited thrombophilia risk fa ctors on early mortality.