Dual Thrombophilic Mutations in Cerebral Venous Sinus Thrombosis: A Case Report Emphasizing Thrombophilia Screening and Indefinite Anticoagulation

Cerebral venous sinus thrombosis (CVST), a rare stroke subtype, often involves inherited thrombophilias. We report a 40-year-old man presenting with progressive headache, blurred vision, and elevated intracranial pressure. Magnetic resonance venography confirmed CVST. Thrombophilia screening identified heterozygous methylenetetrahydrofolate reductase (MTHFR) C677T mutation and plasminogen activator inhibitor-1 (PAI-1) 4G/5G promoter polymorphism. These gene polymorphisms have been consistently associated with thrombosis development and prothrombotic states across studies, potentially indicating an underlying inherited thrombophilia in carriers. Initial therapy with anticoagulation (low molecular weight heparin/warfarin) and vitamin B supplementation resolved symptoms. Discontinuation of medication after 12 months resulted in thrombotic recurrence, which was reversed upon resumption of therapy. Serial monitoring showed sustained remission, normalized homocysteine, and therapeutic International Normalized Ratio (INR). This case highlights the synergistic thrombotic risk of coexisting MTHFR C677T and PAI-1 4G/5G variants in CVST, emphasizing the necessity of comprehensive thrombophilia screening to guide lifelong anticoagulation in hereditary hypercoagulable states. Adherence to indefinite therapy is critical to prevent recurrence in such patients.