Pros and cons of thrombophilia testing

Hypercoagulability via the presence of congenital risk factors is observed in approximately half of patients with spontaneous venous thrombosis (VTE). Thrombophilia testing is useful when the results of coagulation testing will change anticoagulation therapy and when the thrombosis associated risk is higher than the side effects of anticoagulation. Thrombophilia testing is indicated in patients with increased risk for VTE when no obvious causes for VTE are present. When the decision for or against anticoagulation is already set, thrombophilia testing is also of no value in patients with very low risk for VTE. In other indications for thrombophilia testing such as in patients with estrogen therapy or with recurrent miscarriages, data showing a clinical benefit of thrombophilia testing are currently very limited. Owing to new therapeutic approaches in anticoagulation by new oral anticoagulants, thrombophilia testing will be of interest in patient groups in which anticoagulation was contraindicated previously.