From the 2016 Ham-Wasserman Lecture (58th American Society of Hematology – December 3, 2016 – December 6, 2016 – San Diego)
The term thrombophilia is generally used for a laboratory abnormality, most often in the coagulation system, which increases the risk of venous thromboembolism. In the past half-century, thrombophilia has evolved from a very rare genetic disorder to a highly prevalent trait.
Today, some form of thrombophilia can be identified in about half of the patients presenting with venous thromboembolism. Testing has increased tremendously for various indications, including unexplained arterial thrombosis and complications in pregnancy, but whether the results of such tests help in the clinical management of patients has not been settled. In fact, not to test patients with venous thrombosis for thrombophilia is an item on the Choosing Wisely®list endorsed by multiple specialty societies, including ASH.
In this lecture, Dr. Saskia Middeldorp has provided an overview of the way thrombophilia came into clinical practice, which was an immediate consequence of increasing insight into the blood coagulation system. She has also covered genetic research possibilities that made it possible to search for specific candidate abnormalities in the coagulation proteins and their encoding genes. Furthermore, she has discussed the association of inherited thrombophilia with reproductive issues in both men and women, some findings that were the result of serendipity, to speculate about the double-edged sword called inherited thrombophilia.
Saskia Middeldorp , MD, PhD
University of Amsterdam
Inherited Thrombophilia: How Does a Double-Edged Sword Fit into Clinical Practice?
Source ASH News