Evolving paradigm in thrombophilia screening

Abstract

: The role of genetic thrombophilia screening for identifying a hypercoagulable state in the management of venous thromboembolism. We searched MEDLINE and EMBASE from 1995 to 2017, the websites of the professional bodies including American Society of Hematology, British Society of Hematology, International Society of Thrombosis and Hemostasis, College of American Pathologists, American College of Medical Genetics, and American Society of obstetrics and gynecology for their clinical practice guidelines. We used search strategy terms - venous thromboembolism, inherited, thrombophilia, and hypercoagulable state. Thrombophilia screening does not alter management in pregnancy, infertility, recurrent miscarriages, in primary occlusive arterial syndromes, and for primary prevention in relatives of venous thromboembolism patients considering hormonal manipulation including oral contraceptives. Routine thrombophilia screening for identifying a hypercoagulable state is not indicated in venous thromboembolism, as it is only useful in a select group of patients. There is no difference in the treatment of venous thromboembolism in patients with or without an inherited hypercoagulable state.