Handan CANAN, A Nihal DEMİRCAN

Role of the Hereditary Thrombophilic Abnormalities in

Çalışmamızda retina ven tıkanıklıkları (RVT) ile koagülasyon bozukluklarına yol açan herediter trombofili faktörleri arasındaki ilişkiyi incelemeyi amaçladık. Materyal ve Metod: Çalışmamıza 45 hasta RVT grubu olarak, 42 sağlıklı olgu kontrol grubu olarak dahil edildi. Takip süresi ortalama 15.2±5.5 aydı. Her 2 grupta Faktör V Leiden (FVL), protrombin G20210A ve metilentetrahidrofolat redüktaz (MTHFR) enzim mutasyonu, antitrombin III, protein C ve S aktivitesi, fibrinojen, faktör VII ve VIII seviyeleri, Ddimer, aktive parsiel tromboplastin zamanı, protrombin zamanı/INR, CBC, ESR ve tam kan biyokimyası incelemeleri yapıldı. Bulgular: RVT grubunda 4 (%9), kontrol grubunda ise 1 (%2.4) olguda FVL heterozigot mutasyonu tespit edildi. Her 2 grupta da homozigot FVL mutasyonu ve PT G20210A mutasyonu tespit edilmedi. RVT grubunda 26 (%57.8) hastada heterozigot, 4 olguda (%8.9) homozigot MTHFR C677T mutasyonu tespit edildi. Kontrol grubunda ise 14 (%33.3) olguda heterozigot ve 4(%9.5) olguda ise homozigot MTHFR C677T mutasyonu vardı. Gruplar arasında MTHFR C677T mutasyonu açısından istatistiksel olarak anlamlı fark vardı (p=0,032). RVT grubunda serum trigliserid, glukoz , fibrinojen ve ESR seviyeleri kontrol grubuna göre belirgin olarak yüksek bulundu. Sonuç: RVT olan hastaların etyolojisini araştırırken tüm ilişkili sistemik ve oftalmolojik muayenenin yanısıra hiperkoagülasyon değerlendirmesi için hematolojik testlerin yapılması gerektiğini düşünmekteyiz

Retinal Ven Tıkanıklıklarında Herediter Trombofilinin Rolü

The aim of our study was to evaluate the relation between hereditary thrombophilic factors leading to coagulation disorders and retinal vein occlusion (RVO). Material and Methods: A total of 45 consecutive patients with RVO group and 42 healty subjects (Control group) were enrolled. The mean follow-up period was 15.2±5.5 months. The following investigations were performed in both groups: Factor V Leiden (FVL), prothrombin G20210A and methylenetetrahydrofolate reductase (MTHFR) enzyme mutations, antithrombin III, protein C and S activities, fibrinogen, factor VII and VIII levels, D-dimer, activated partial thromboplastin time and prothrombin time/INR, complete blood count, ESR and blood biochemistry. Results: Factor V leiden heterozygote mutation was found in four (9%) patients in RVO and one (2.4%) in Control groups. Homozygote FVL mutation and PT G20210A mutation were not found in neither of the groups. In the RVO group, 26 patients (57.8%) had MTHFR C677T heterozygote mutation and four (8.9%) had homozygote mutation. In the Control group 14 (33.3%) patients had MTHFR C677T heterozygote mutation and four (9.5%) had homozygote mutation. There was a significant difference in MTHFR C677T genotype distribution between the 2 groups (p=0,032). The serum triglyceride, glucose, fibrinogen and ESR levels were significantly higher in patients compared to the controls Conclusion: We believe that, in addition to all related systemic and ophthalmological investigations, hematological screening tests to detect hypercoagulation should be performed while investigating the etiology in patients with RVO

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