Fatma ŞİMŞEK, Mustafa CEYLAN, Nuray BİLGE

Serebral Venöz Trombozlu Erişkinlerde Etiyoloji ve Genetik Polimorfizm İlişkisi

Amaç: Serebral ven trombozu (SVT) nadir bir inme nedeni olup etiyolojisinde birçok faktör yer almaktadır. Olguların en az 1/4'ü trombofiliye bağlıdır. Tromboembolizm için en yaygın risk faktörleri metilen-tetra-hidro-folat redüktaz (MTHFR) C677T, faktör 5 (FV) G1691A (Leiden), faktör 2 (FII) GA20210 ve mutasyonlarıdır. Farklı genetik polimorfizmleri ve yüksek homosistein düzeyleri ile ilişkisi de araştırılmıştır. Bu çalışmada SVT’li olgularda genetik polimorfizm varlığı ve homosistein düzeylerinin SVT etiyolojisindeki rolünün araştırılması amaçlanmıştır.Gereç ve Yöntemler: Ocak 2010-Haziran 2018 yılları arasında merkezimizde geliş tanısı SVT olan hastaların demografik özellikleri, klinik, radyolojik ve laboratuvar verileri geriye dönük olarak incelendi. SVT için etiyolojik risk faktörleri ve bu risk faktörleri içinde genetik polimorfizmin rolü araştırıldı.Bulgular: Çalışmada 92 (73 kadın ve 19 erkek) hasta ve 52 (44 kadın ve 8 erkek) kontrol birey değerlendirildi. SVT’li hastalarda en sık başvuru semptomu baş ağrısı idi. MTHFR, Faktör 13 (F13) V34L, plazminojen aktivatör inhibitörü (PAI) ve β-fibrinojen mutasyonları kontrol grubunda daha yüksek idi. FV Leiden, FII, Glikoprotein 3a mutasyonu ve homosistein düzeyi açısından her iki grup arasında anlamlı istatistiksel fark tespit edilmedi.Sonuç: Bu çalışmada literatür ile uyumlu olan sonuçlar yanında bazı farklı sonuçlarda tespit edilmiştir. MTHFR (C677T, A1289C), FV Leiden, FII G20210, β-fibrinojen 455 G-A, PAI-1 4G/5G polimorfizmleri SVT için risk oluşturmamaktadır. F13 V34L polimorfizminin SVT'ye karşı koruyucu rolü vardır.

Anahtar Kelimeler:

serebral venöz tromboz, trombofili, genetik polimorfizm

The Relationship Between Etiology and Genetic Polymorphism in Adults with Cerebral Venous Thrombosis

Aim: Cerebral venous thrombosis (CVT) is a rare cause of stroke, and there are many factors in its etiology. At least 1/4 of cases is based on thrombophilia. The most common risk factors for thromboembolism were methyl-tetra-hydro-folate reductase (MTHFR) C677T, factor V (FV) G1691A (Leiden), factor II (FII) GA20210 and their mutations. Its relationship with different genetic polymorphisms and high homocysteine levels were also investigated. In this study, it was aimed to investigate the existence of genetic polymorphism and the role of homocysteine levels in CVT etiology.Material and Methods: Demographic characteristics, clinical, radiological and laboratory data of patients diagnosed with CVT between January 2010 and June 2018 were reviewed retrospectively. Etiologic risk factors for CVT and the role of genetic polymorphism in these risk factors were investigated.Results: In this study, 92 (73 female and 19 male) patients and 52 (44 female and 8 male) control subjects were evaluated. The most frequent admission symptom was headache in patients with CVT. MTFHR, factor 13 (F13) V34L, plasminogen activator inhibitory (PAI) and β-fibrinogen mutations were higher in control group. No statistically significant difference was found between the two groups in terms of FV Leiden, FII, Glycoprotein 3a mutation and homocysteine level.Conclusion: In this study, in addition to the results consistent with the literature, some different results were determined. MTHFR (C677T, A1289C), FV Leiden, FII G20210, β-fibrinogen 455 G-A, PAI-1 4G/5G polymorphisms do not pose a risk for CVT. F13 V34L polymorphism has a protective role against CVT.

Keywords:

Cerebral venous thrombosis, thrombophilia, genetic polymorphism,

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