Cerebral Venous Thrombosis: Genetic Aspects

Cerebral venous thrombosis (CVT) is being diagnosed with higher frequency due to increased awareness and ready access to MR. Multiple permanent or transient conditions predispose to CVT. The most frequent permanent conditions predisposing to CVT are genetic prothrombotic disorders. More than half of CVT patients have more than one predisposing condition, in general a combination of a permanent (e.g., genetic prothrombotic disorder) with a transient risk factor (e.g., oral contraceptives, infection). Several publications from different regions of the world, systematic reviews and meta-analysis demonstrated that inherited thrombophilia increases the risk of CVT, especially in children. The most common genetic thrombophilic disorders which are important risk factors for CVT are Factor V Leiden and prothrombin G20210A mutations and protein C, protein S and antithrombin deficiencies. A 2-stage genome-wide case control study identified a locus associated with an increased risk of CVT. Routine screening of thrombophilia with the aim of decreasing the risk of death or disability in CVT patients is not recommended. Thrombophilia screening may be performed in patients with high pre-test probability of having severe thrombophilia (i.e., a personal and/or family history of venous thrombosis, young age at CVT, CVT without a transient or a permanent risk factor) to prevent recurrent venous thrombotic events.