Prevalence of the Thrombophilic Mutations in Patients with Varicose Veins

Abstract

Objective: Varicose venous disease is an important disease causing psychiatric, cosmetic, medical and socioeconomic problems. Factor V Leiden (FVL), Prothrombin gene mutation (PT G20210A) and methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C mutations are the main thrombophilic risk factors used to investigate the causes of venous thrombosis. However, there are few studies on the relationship between varicose venous disease and these thrombophilic risk factors. The aim of our study is to investigate the distribution frequencies of these mutations in patients with varicose veins. Material and Methods: This study included 55 patients with varicose veins. The mutations including FVL, PT G20210A and MTHFR (C677T, A1298C) were investigated in all patients. Polymerase chain reaction (PCR) and the amplification refractory mutation system were used to identify the polymorphisms in the blood of the patients. Results: There were 17 men and 38 women with an average age of 51.08 ± 13.35 years. The heterozygous PT G20210 polymorphism was observed in 3(5.4%) patients. The FVL polymorphism was found in 6 (10.9%) patients. The heterozygous and homozygous MTHFR C677T genotypes were detected in 19 (36.3%) and 9 (16.3%) patients, respectively, giving an overall prevalence of 52.6%. The heterozygous and homozygous MTHFR A1298C genotypes were identified in 29 (54.5%) and 6 (10.9%) patients, respectively, revealing an overall prevalence of 65.4%. Conclusion: This study showed that the prevalence of MTHFR C677T and MTHFR A1298C mutations is quite high in patients with varicose veins, suggesting a contributory role of these mutations in the development of varicose veins. However, our findings should be supported by further studies.

Özet

Amaç: Variköz venöz hastalık psişik, kozmetik, tıbbi ve sosyoekonomik sorunlara yol açan yaygın ve önemli bir hastalıktır. Faktör V Leiden (FVL), protrombin gen mutasyonu (PT G20210A), metilentetrahidrofolat redüktaz (MTHFR) C677T ve MTHFR A1298 mutasyonları venöz tromboz nedenlerini araştırmada kullanılan başlıca trombofilik risk faktörleridir. Bununla birlikte bu mutasyonların variköz venöz hastalıkla ilişkisiyle iligili çalışmalar azdır. Çalışmamızın amacı variköz venleri olan hastalarda bu mutasyonların dağılımının sıklığını araştırmaktır.