Thrombophilia is a group of disorders resulting in an increased risk of thrombosis.
· Factor V Leiden (Activated Protein C resistance): This is the commonest form of thrombophilia. It is present in 2–3% of the population and results from a point mutation in the factor V gene. The mutation results in a resistance of factor V to inactivation by Protein C. This failure in the normal control of the coagulation cascade results in a thrombotic tendency. This risk is further increased in homozygotes, in women taking the oral contraceptive pill and in pregnancy.
· Protein C & S deficiency, Antithrombin III deficiency: Deficiency in normal factors that downregulate the coagulation cascade increase clotting tendency. Inheritance of a single mutation for any of these conditions results in recurrent thrombotic episodes in young patients.
For clinical features and management of venous thromboembolism.