Factor V Leiden Mutation And Prothrombin G20210A Mutation As Genetic Risk Factors For Cerebral Venous Thrombosis In An Egyptian Sample: Consecutive Controlled Case Series

Abstract

Objective : To assess, for the fi rst time, the role of Factor V Leiden (FVL) and prothrombin gene/G20210A mutations as risk factors (RF) for cerebral venous thrombosis (CVT) in Egypt and secondarily to study the effect of simultaneous presence of acquired RF for thrombosis together with these mutations on the risk of developing CVT. Background : Inherited thrombophilias are responsible for 22.4% of CVT cases. Data from Arab countries are emerging. Patients and methods : A case e control study (50 patients with CVT and 150 controls) was performed in our university hospital. Genetic screening included single nucleotide polymorphisms detection for FVL/G1691A mutation and pro-thrombin gene/G20210A mutation. Acquired RF for thrombosis were also investigated. Results : Prothrombin gene mutation was found to be more prevalent and had more risk for CVT occurrence (20%, P ¼ 0.00019505, OR: 9.125, CI: 2.718 e 30.635) more than FVL mutation (12%, P ¼ 0.0489, OR: 3.273, CI: 1.005 e 10.660). This risk was increased if either mutation was simultaneously associated with acquired RF for thrombosis (OR ¼ 28.778, CI: 6.258 e 132.332). Conclusions : Prothrombin gene mutation and FVL mutation are important RF for CVT in Egypt. This risk is increased up to fourfold if either mutation was simultaneously associated with acquired RF for thrombosis.