ABSTRACT NUMBER: ESOC2026YS88 CONTRIBUTION OF GENETIC FACTORS TO THE DEVELOPMENT OF CEREBRAL VENOUS THROMBOSIS AND THE BIOTRANSFORMATION SYSTEM FOR THE SELECTION OF INDIVIDUAL THERAPY

Abstract Background and aims Ischemic stroke and cerebral venous thrombosis (CVT) share clinical presentations but require different management. Anticoagulation is essential for confirmed CVT but is associated with a significant risk of bleeding complications. Aim: To define the role of genetic factors in CVT and identify variations in the biotransformation system of drugs for its treatment and prevention. Methods The study was conducted at Voronezh City Emergency Clinical Hospital No.1. A total of 30 patients were enrolled: those presenting with clinical signs suggestive of cerebral venous thrombosis (CVT) and those with stroke of undetermined etiology. CVT was confirmed by Computed Tomography Venography. Genetic analysis in confirmed CVT patients included: the prothrombin gene (F2 G20210A), factor V (F5 Arg506Gln), fibrinogen beta chain gene (FGB G-455A), plasminogen activator inhibitor-1 gene (SERPINE1 5G/4G), platelet fibrinogen receptor gene (ITGB3 HPA-1a/1b); methylenetetrahydrofolate reductase gene (MTHFR C677T and A1298C); cytochrome P450 genes (CYP2C9 alleles *1, *2, *3, CYP2C19 alleles *1, *2, *3, *17*); vitamin K epoxide reductase complex subunit 1 gene (*VKORC1* G-1639A). Genetic analysis of the detoxification and biotransformation system enabled: 1) determination of warfarin metabolism type, facilitating personalized initial dosing to minimize adverse events; 2) selection of the appropriate antiplatelet agent (acetylsalicylic acid or clopidogrel) for secondary CVT prevention following thrombus regression. This analysis supports a personalized approach to the treatment and secondary prevention of CVT, optimizing therapeutic strategy and potentially reducing costs associated with the management of therapy-related complications. Results Ongoing study: 50 participants enrolled, 20 with confirmed CVT. Genetic results pending. Conflict of interest The authors have no conflicts of interest to declare