The utility of thrombophilia testing

Abstract

In the past decades, the recognition of several inherited thrombophilic traits has greatly improved our knowledge of the pathogenesis of venous thromboembolism, explaining about half of all idiopathic cases. As a consequence, thrombophilia testing has enormously increased in the past years for various clinical conditions. In this paper, the current indications of the most commonly tested thrombophilic abnormalities (i.e., Factor V Leiden, prothrombin G20210A mutation, protein C, S and antithrombin deficiencies) are analysed. When used appropriately thrombophilia testing has a positive impact on the health care of the people tested and their relatives.