Prevalence of activated protein C resistance, factor V Leiden and prothrombin 20210A mutations among patients with venous thromboembolism

ABSTRACT

Venous thromboembolism [VTE] is a multifactorial disease. Multiple interactions between genetic and environmental factor contribute to the development of the disease. Factor V [F V] Leiden and factor II[F II] G 20210A mutations are two frequent genetic risk factors involved in VTE. The goal of this case control study which was carried on 30 young patients with VTE and 20 age matched controls was to determine the prevalence of activated protein C resistance [APC-R], FV Leiden mutation as well as F II 20210A mutation as risk factors for VTE in the studied groups. Both patients and control groups were subjected to proper history taking including personal and family history, routine laboratory and coagulation tests including liver function [SGOT, SGPT], random blood sugar, total cholesterol, PT, and APPT. Our results revealed the history of immobilization was the only acquired risk factor which showed a statistically significant difference [p=0.01] between the two studied group. Actifed protein C sensitivity ratio and the normalized sensitivity ratio [APC-SR and APC-SR] were all significantly lower in the patients' group as compared to the control group with p values of 0.002 and 0.002 respectively. Factor V Leiden was detected in 30% of patients and 5% of controls with F II 202140A mutation was only detected in 6.7% of significantly lower APC-SR and n-APC-SR when compared to patients without the emulation with p values < 0.001. Simultaneous detection of both studied mutation was not recorded in any of our cases