Comprehensive Thrombophilia Evaluation in Cerebral Venous Thrombosis: A Single Center Cross Sectional Study

In patients with Cerebral Venous Thrombosis (CVT), inherited and acquired thrombophilic conditions have been studied either individually or as subset of a comprehensive evaluation. None of the studies have included a comprehensive evaluation of all the known associations. The associations for various conditions have been found to differ significantly between the Indian and the Western population. We defined a Comprehensive Thrombophilia panel (inherited and acquired) comprising of 13 thrombophilic conditions to include all the relevant known associations in CVT. All patients in this cross-sectional study were evaluated as per the defined protocol during the three-year study period. We evaluated 42 patients of CVT for presence of inherited and acquired thrombophilic conditions. The mean age of the study population was 38.4 yrs. An inherited or an acquired thrombophilic condition was diagnosed in 76% patients. Hyperhomocysteinemia and raised factor VIII levels were the most common conditions, seen in 38% and 35.7% patients respectively. MTHFR mutation was seen in 21% patients. Protein S deficiency was seen in 7% patients. Factor V Leiden and JAK2 positive MPN were seen in 2.3% cases. We did not detect any patients with Protein C deficiency, APLA syndrome, anti-thrombin deficiency, PG20210A mutation or PNH. PAI-1 polymorphism was not included in the protocol as its role is controversial and it has not been established in Indian studies. There is an urgent need for Comprehensive Thrombophilia testing in a larger population of CVT patients to better delineate the spectrum of associated thrombophilic conditions. Such a study is bound to impact therapy and prognosis of CVT.