Inherited thrombophilia: a double-edged sword

S. Middeldorp
2016 Hematology ASH Education Program  
Inherited thrombophilia is a blood coagulation disorder that increases the risk for venous thromboembolism (VTE). During the last decades, the practice of testing has evolved from testing selected populations, leading to high perceived risks, to broad testing for various conditions that included VTE, arterial thrombosis, and pregnancy complications. Because results of such tests usually do not guide treatment decisions, not testing patients with VTE for inherited thrombophilia is on the
more » ... a is on the "Choosing Wisely" list endorsed by multiple specialty societies, including ASH. Inherited thrombophilia can be regarded a double-edged sword, as despite the rationale not to test, it is still being performed frequently. Another way of seeing inherited thrombophilia as a double-edged sword lies in its 2-sided association with reproduction, both in men and in women. Current areas of research are whether women with inherited thrombophilia and pregnancy complications benefit from anticoagulant therapy with regard to improving the chance of a successful pregnancy. Potential effects of inherited thrombophilia, most notably factor V Leiden, on improved embryo implantation in women and sperm counts in men are intriguing, but are currently poorly understood. Learning Objectives Upon completion of this activity, participants will be able to: • Describe the evolution of research into inherited thrombophilia during the last decades • Know the absolute risk for VTE associated with inherited thrombophilia • Know the association of inherited thrombophilia with non-VTE clinical manifestations, including reproduction, in men and women • Understand the Choose Wisely recommendation not to test patients for inherited thrombophilia, and justify rational exceptions to this rule
doi:10.1182/asheducation-2016.1.1 pmid:27913455 fatcat:4qrgko6a7nbh7ipcwoxa4urxrq