Thrombophilia in ischemic stroke: Etiological and prognostic perspectives

Öz

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.

Anahtar Kelimeler

• Young stroke
• thrombophilia
• MTHFR
• PAI-1
• homocysteine
• prognosis

İskemik inmede trombofilinin etiyoloji ve prognoza etkisi

Öz

Amaç: Genç erişkinlerde görülen iskemik inme, ileri yaş grubuna kıyasla farklı etiyolojik ve klinik özellikler göstermektedir. Bu yaş grubunda kalıtsal ve edinsel trombofilinin inme riski ve prognozundaki rolü net olarak bilinmemektedir. Bu çalışmada, genç iskemik inme hastalarında trombofili belirteçlerinin sıklığı ve kısa dönem fonksiyonel sonuçlarla ilişkisi araştırılmıştır. Gereç ve Yöntemler: İskemik inme tanısı almış, yaşı ≤50 olan 56 hasta retrospektif olarak incelendi. Demografik veriler, klasik vasküler risk faktörleri, inme özellikleri ve yaygın trombofili belirteçleri (Protrombin G20210A, Faktör V Leiden, MTHFR C677T ve A1298C, PAI-1 4G/5G, Faktör XIII V34L, homosistein düzeyi) kaydedildi. Taburculukta fonksiyonel durum, modifiye Rankin Skalası (mRS ≤2: iyi prognoz) ile değerlendirildi. Bulgular: Ortalama yaş 40,4 ± 6,86 yıl olup hastaların %67,9’u erkekti. Hipertansiyon (%39,3), sigara kullanımı (%42,9) ve dislipidemi (%26,8) en sık risk faktörleriydi. En yaygın trombofili belirteçleri yüksek homosistein düzeyi (%39,3) ve PAI-1 4G/5G polimorfizmi (%33,9) idi. MTHFR C677T mutasyonu %16,1, Protrombin G20210A %8,9 ve Faktör V Leiden %7,1 oranında saptandı. Trombofili belirteçlerinin hiçbiri iyi prognoz ile anlamlı ilişki göstermedi; ancak MTHFR C677T mutasyonu sınırda anlamlı eğilim gösterdi (p=0,0641). Sonuç: Homosistein yüksekliği, PAI-1 4G/5G polimorfizmi ve MTHFR C677T mutasyonu genç iskemik inme hastalarında görece sık görülmesine rağmen, erken dönemde fonksiyonel iyileşme üzerinde anlamlı etkisi bulunmamıştır. Trombofili, bu popülasyonda primer değil, katkıda bulunan bir risk faktörü olabilir. Bu konunun netleştirilmesi için daha geniş, çok merkezli çalışmalara ihtiyaç vardır.

Anahtar Kelimeler

• Genç inme
• trombofili
• MTHFR
• PAI-1
• homosistein
• prognoz

Kaynakça

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