Factor V Leiden Mutation

Excerpt

Factor V Leiden is a point mutation of factor V, resulting in an elimination of the cleavage site in factor V and factor Va. This genetic defect leads to an increased risk of thrombosis, especially in homozygous or pseudo-homozygous factor V Leiden mutations. Many individuals with the mutation will never develop a venous thrombotic event (VTE). The decision about VTE risk reduction (both primary and secondary and prevention of recurrence) requires a great deal of clinical acumen, given that most people who carry the mutation will never have VTE.