Factor V Leiden and MTHFR mutations as a combined risk factor for hypercoagulability in referred Patients population from Western India

Abstract

Background Factor V Leiden mutation is a recognized most prevalent genetic risk factor for venous thromboembolic disease. Factor V mutations, are known to potentiate the effect of MTHFR on deep vein thrombosis. The thermo labile variant of the MTHFR gene (C677T) increases the plasma homocysteine levels and hyperhomocysteneimia is a known risk factor of deep vein thrombosis. Results of studies concerning interaction of Hyperhomocysteneimia and thromobophilic risk factors like Factor V are contradictory. Some studies have shown an increased risk (10-50 times) of deep vein thrombosis because of MTHFR and FVL mutations combined, yet other studies fail to conclude similarly. We attempt to address this paradox in our study referred for DVT, Hyperhomocysteneimia and pulmonary embolism and assess the importance of the synergistic effects of FVL and MTHFR mutations.