Factor V Leiden mutation in Egyptian patients with deep vein thrombosis

Background Deep vein thrombosis (DVT) is a serious disease resulting from the interaction of environmental and inherited risk factors. One of the causes may be thrombosis resulting from the inherited resistance to activated protein C caused by factor V Leiden (FV Leiden) mutation. Objective The aim of this study was to investigate the presence of FV Leiden mutation among Egyptian patients with DVT in comparison with a normal population of controls, and to evaluate its relevance in thrombotic tendency. Patients and methods This cross-sectional, case-controlled study included 50 patients with DVT, with a mean age of 38.70 ± 7.96 years and a male to female ratio of 0.72. These patients were recruited among the patients admitted to the Department of Vascular Surgery in Tanta University Hospitals. For association and risk analysis, these patients were compared with 10 healthy unrelated control participants of matched age and sex. FV Leiden gene mutation (G1691A) was detected using real-time PCR. Results There was a statistically significant difference between the patients and the controls regarding FV Leiden polymorphism ( P = 0.043). Ten patients (20%) were found to be heterozygous for the gene. None of the patients was homozygous for this polymorphism. Risk factor for DVT was 1.3 (95% confidence interval). FV Leiden mutation was found to be significantly prevalent among patients with a positive family history of DVT ( P = 0.001). There were no statistical significant difference between the control participants and the DVT patients as regards age, sex, and history of previous exposure. In addition, there was no association between FV Leiden and the site of DVT. Conclusion FV Leiden mutation has a high prevalence (20%) and positive association with DVT among Egyptian patients.