ArticleCureus2025
Dual Thrombophilic Mutations in Cerebral Venous Sinus Thrombosis: A Case Report Emphasizing Thrombophilia Screening and Indefinite Anticoagulation.
Article in Cureus, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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5 authors.
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Abstract
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.
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