Thrombophilia gene testing in patients with ischemic stroke of undetermined aetiology: preliminary findings

Abstract Background Thrombophilia testing is commonly conducted following an ischemic stroke, especially in cases classified as cryptogenic. However, there is limited evidence linking most thrombophilic conditions to ischemic stroke, and the justification for such testing in many clinical scenarios remains unclear. This study aimed to assess the association between thrombophilia gene polymorphisms and ischemic stroke of undetermined etiology. Methods This prospective analytical study was conducted over one year and included 45 patients with ischemic stroke of undetermined etiology. Genetic testing for 12 thrombophilia-related gene variants was performed. Data were analyzed using SPSS version 26, with statistical significance set at p < 0.05. Ethical approval and informed consent were obtained from all participants. Results Thrombophilia-related gene abnormalities were identified in 77.7% of patients, with two or more heterozygous or homozygous variants present. The most common variants were MTHFR C677T (57.8% heterozygous, 8.9% homozygous), MTHFR A1298C (37.8% heterozygous, 8.9% homozygous), and B-Fibrinogen − 455 G ~ A (37.8% heterozygous). Most patients presented with mild stroke severity. HPA-1 a/b, APO B R3500Q, and APO E variants were absent in all cases. Conclusion This study highlights a high prevalence of thrombophilia gene polymorphisms among patients with ischemic stroke of undetermined etiology. These findings support the potential relevance of thrombophilia in stroke pathogenesis and emphasize the need for further research to clarify its clinical implications for diagnosis, management, and prevention.