Heritable Thrombophilia

Abstract

Venous thromboembolism (VTE) is a common source of morbidity and mortality in developed countries. Heritable risk factors (thrombophilia) for VTE can be identified in 30-50% of affected patients. Factor V Leiden, prothrombin 20210G>A, and deficiencies of antithrombin, protein C and protein S increase the risk of a first VTE. However, an individual's thrombotic risk is determined by a complex interplay of genetic, acquired and circumstantial risk factors. Thrombophilia screening should only be ordered in a highly selected patient group, such as in patients with strong family history of recurrent unprovoked VTEs. Testing for heritable thrombophilia involves a range of complex coagulation-based tests along with genetic testing, testing is expensive, and the results can be affected by preanalytical variables. Current treatment for thrombophilia involves both prophylaxis with low-molecular-weight heparin and treatment involving heparin, warfarin or purified factor concentrate. Aim of the study is to spotlight on causes of inherited thrombophilia, screening and diagnosis.