Thrombophilia in ischemic stroke: Etiological and prognostic perspectives

Authors : Ebru Marzioğlu Özdemir, Gökhan Özdemir
Pages : 348-353
Doi:10.29058/mjwbs.1762102
View : 36 | Download : 41
Publication Date : 2025-12-31
Article Type : Research Paper
Abstract :Aim: Ischemic stroke in young adults presents distinct etiological and clinical features compared to older populations. The contribution of inherited and acquired thrombophilia to stroke risk and prognosis in this age group remains uncertain. This study aimed to investigate the prevalence of thrombophilia markers and their potential association with short-term functional outcomes in young ischemic stroke patients. Material and Methods: We retrospectively analyzed 56 patients aged ≤50 years diagnosed with ischemic stroke. Demographic data, conventional vascular risk factors, stroke characteristics, and laboratory results for common thrombophilia markers (Prothrombin G20210A, Factor V Leiden, MTHFR C677T and A1298C, PAI-1 4G/5G, Factor XIII V34L, and homocysteine levels) were collected. Functional outcome at discharge was assessed using the modified Rankin Scale (mRS ≤2 defined as favorable). Results: The mean age was 40.4 ± 6.86 years, and 67.9% were male. Hypertension (39.3%), smoking (42.9%), and dyslipidemia (26.8%) were common. The most prevalent thrombophilia markers were elevated homocysteine (39.3%) and PAI-1 4G/5G polymorphism (33.9%). MTHFR C677T mutation was present 16.1% of patients, Prothrombin G20210A in 8.9%, and Factor V Leiden in 7.1%. None of the thrombophilia markers showed a statistically significant association with favorable short-term outcome, although MTHFR C677T showed a borderline trend (p=0.0641). Conclusion: Thrombophilia markers, particularly hyperhomocysteinemia, PAI-1 4G/5G, and MTHFR C677T mutation, were relatively common in young ischemic stroke patients but did not significantly impact early functional recovery. Thrombophilia may serve as a contributory rather than primary cause of stroke in this population. Larger, multicenter studies are warranted to clarify their etiological and prognostic significance.
Keywords : Genç inme, trombofili, MTHFR, PAI-1, homosistein, prognoz

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