Prevalence of thrombophilic mutations in male patients with peripheral arterial disease

Abstract

INTRODUCTION: Factor V Leiden (FVL), Prothrombin gene mutation (PT G20210A) and methylenetetrahydrofolate reductase (MTHFR) C677T mutations have been known as thrombophilic risk factors for the development of venous thrombosis. However, the association between these polymorphisms and peripheral arterial disease (PAD) has been yet controversial and only PT G20210A polymorphism has been suggested as a risk factor for PAD. This study was aimed to investigate the distribution frequencies of these polymorphisms in male patients with PAD. METHODS: A total of 30 male patients with PAD were included in the study. Patients were diagnosed by means of physical examination and Doppler ultrasonography. 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: The ages of the patients ranged from 36 to 87 years and the mean age was 65.2 +- 11.2 years. There were no homozygous carriers for either FVL or PT G20210A polymorphisms. The heterozygous FVL and heterozygous PT G20210 polymorphisms were observed in 4(13.3%) and 5(16.6%) patients, respectively. The homozygous and heterozygous MTHFR C677T polymorphisms were found in 5 (16.6%) and 15 (50%) patients, respectively. DISCUSSION AND CONCLUSION: Our study supported the opinion that PT G20210A allele should be taken into account as a thrombotic risk factor for PAD, especially in smokers. However, our findings should be supported by detailed studies.

Keywords

• peripheral artery disease
• thrombophilia
• fvl
• mthfr
• pt g2010a