An update on common inherited thrombophilic conditions

Abstract

The term thrombophilia refers to a number of inherited and/or acquired conditions that may be associated with an increased tendency to develop thrombosis. In this sense, hereditary thrombophilia is a genetic disorder of hemostatic proteins that is present at birth and contributes to individuals being at increased risk for venous thrombosis. Three important questions arise from the still ongoing debate about the benefits and limitations of testing for hereditary thrombophilia, which can be summarized as follows: “which tests?”, “when?”, and “how?”. This article attempts to answer these questions by providing an up-to-date overview of the most common and clinically significant inherited thrombophilic disorders (i.e., antithrombin, protein S and protein C deficiencies, activated protein C resistance, factor V Leiden, and prothrombin gene mutationG20210A), their prevalence, clinical severity, and diagnostic approach, while also highlighting the potential advantages and limitations of testing for inherited thrombophilia.