High prevalence of factor V mutation (Leiden) in the Eastern Mediterranean

Abstract

Factor V (FV), a 330-kDa procofactor, is a plasma protein that acts in concert with other plasma factors in regulating the blood coagulation cascade (1). Upon its proteolysis by factor Xa and/or thrombin, factor Va is inactivated by proteolysis by activated protein C (1, 2). A defect in FV hydrolysis brought about in part by resistance to activated protein C hydrolysis translates into poor anticoagulant activity, leading to thrombosis and other disorders of poor anticoagulation (3–5). Factor V mutation-Leiden (FV-Leiden) is a specific point mutation, identified as a GA substitution in nucleotide 1691 in the factor V gene that leads to Arg506-Gln conversion (2) and is associated with hypercoagulability and increased risk of venous thromboembolism. The prevalence of FV-Leiden is high among venous thromboembolism patients (20–60%) compared with otherwise healthy individuals (2–13%)(6, 7).