Thrombophilia, risk factors and prevention

Abstract

Fifty-three years after the first description of an inherited prothrombotic condition (antithrombin deficiency), our knowledge on hereditary and acquired causes of hypercoagulability that can predispose carriers to venous thromboembolism (VTE) has greatly improved. Areas covered: Main causes of hereditary thrombophilia are summarized alongside new prothrombotic mutations recently discovered. The main causes of acquired thrombophilia, and namely, antiphospholipid antibody syndrome and hyperhomocysteinemia, are also discussed together with other common acquired prothrombotic states characterized by an increase of procoagulant factors and/or a decrease of natural anticoagulants. Finally, suggestions for thromboprophylaxis in carriers of hereditary thrombophilia according to current guidelines/evidence are made for the most challenging high-risk situations (i.e. surgery, pregnancy, contraception, cancer, economy class syndrome) as well as for the prevention of post-thrombotic syndrome. Expert opinion: A carrier of inherited thrombophilia should be evaluated in the framework of other (genetic and/or acquired) coexisting risk factors for first or recurrent VTE when assessing the need and duration of prevention (primary prophylaxis). Prevention strategies should be tailored to each patient and every situational risk factor. The knowledge of the carriership status of severe thrombophilia in the proband can be important to provide asymptomatic relatives with adequate counseling on thrombophilia screening or primary thromboprophylaxis.

Keywords: Deep vein thrombosis; inherited and acquired thrombophilia; pregnancy; pulmonary embolism; thromboprophylaxis; venous thromboembolism.