Thrombophilia Gene Testing in Patients with Ischemic Stroke of Undetermined Aetiology

Abstract Background Ischemic stroke of undetermined aetiology represents a large patient group as it involves approximately 17% of all ischemic stroke patients. Thrombophilia testing is frequently conducted in ischemic stroke of undetermined aetiology cases despite uncertain evidence on its association with stroke risk. Genetic factors such as Factor V Leiden and prothrombin gene mutations are studied, with unclear clinical impact. Racial variations influence thrombophilia prevalence. Efficient testing strategies targeting high-risk subgroups, such as ischemic stroke of undetermined aetiology patients, are sought to improve diagnostic yield and cost-effectiveness. However, the role of inherited thrombophilias in arterial thrombosis, while potentially significant, requires further elucidation due to the multifactorial nature of arterial ischemic stroke. These factors highlight the complexity surrounding thrombophilia testing and its utility in ischemic stroke management and prevention. Aim of the Work To evaluate the association between thrombophilia genes polymorphism and patients with ischemic stroke of undetermined aetiology. Patients and Methods This prospective analytical study conducted at Ain Shams University Hospital aimed to analyze thrombophilia gene abnormalities in 45 ischemic stroke of undetermined aetiology patients over a one-year period. Thrombophilia gene analysis included 12 gene variants. Data analysis utilized SPSS version 26 with a significance level set at p < 0.05. Ethical approval and informed consent were obtained. The study assessed the presence of thrombophilia gene abnormalities in ischemic stroke patients with unknown etiology, contributing to understanding genetic factors in stroke pathology. Results The study revealed a high incidence of thrombophilia-related gene abnormalities, with 77.7% of cases exhibiting two or more heterozygous or homozygous abnormalities. The most prevalent gene results found was MTHFR C677T with 26 heterozygous state (57.8 %) and 4 homozygous state (8.9 %) followed by MTHFR A1298C with 17 heterozygous state (37.8 %) and 4 homozygous state (8.9 %) followed by B-Fibrinogen -455 G∼A with 17 heterozygous state (37.8%). The majority of patients had mild stroke severity. Genes PAI-1 a/b, APO B R3500Q, APO E genotype was negative in all cases. These findings underscore the importance of considering thrombophilia in stroke etiology and emphasize the need for further research to elucidate its clinical implications for improved patient management and prognosis. Conclusion This study underscores thrombophilia's relevance in ischemic stroke of undetermined aetiology. And reveals the high incidence of some genes while rare incidence of others, emphasizing the need for further research.