Factor V Leiden is associated with higher risk of deep venous thrombosis of large blood vessels.

AIM To determine the prevalence of factor V Leiden mutation in patients with different presentation of venous thromboembolic disease and healthy individuals in the Republic of Macedonia. METHODS The retrospective case control study involved 190 patients with venous thromboembolic disease and 200 healthy individuals, who were screened for the presence of factor V Leiden mutation, using a polymerase chain reaction-restriction fragment length polymorphism method. The prevalence of factor V Leiden was analyzed according to the localization of thrombosis, presence of risk factors, and family history of thrombosis. The odds of deep venous thrombosis were calculated with respect to the presence of factor V Leiden mutation. RESULTS The prevalence of factor V Leiden mutation among patients with venous thromboembolic disease was 21.1%, compared with 5.5% in the healthy individuals. Factor V Leiden positive patients had the first episode of deep venous thrombosis at a younger age, and the prevalence of the mutation was the highest among patients with a positive family history of thrombosis (33.9%, P=0.003) and in patients with deep venous thrombosis affecting a large blood vessel (37.7%, P=0.001). The prevalence of factor V Leiden mutation was lower in patients with calf deep venous thrombosis and primary thromboembolism (13.3% and 13.1%, respectively; P>0.05). The odds ratio for iliofemoral or femoral deep venous thrombosis in factor V Leiden carriers was 10.4 (95% confidence interval, 4.7-23.1). CONCLUSION The prevalence of factor V Leiden mutation was high in patients with venous thromboembolic disease and healthy individuals in the Republic of Macedonia. Factor V Leiden carriers have the highest odds of developing deep venous thrombosis affecting a large venous blood vessel.