Abstract
Venous thromboembolism (VTE) is a major cause of morbidity and mortality throughout
the world. Up to one half of patients who present with VTE will have an underlying
thrombophilic defect. This knowledge has led to a widespread practice of testing for
such defects in patients who develop VTE. However, identifying a hereditary thrombophilia
by itself does not necessarily change outcomes or dictate therapy. Furthermore, family
history of VTE by itself can increase an asymptomatic person's VTE risk several-fold,
independent of detecting a known inherited thrombophilia. In this article, we will
describe the current validated hereditary thrombophilias including their history,
prevalence, and association with VTE. With a focus on evaluating both risks and benefits
of testing, we will also explore the controversies of why, who, and when to test as
well as discuss contemporary societal guidelines. Lastly, we will share how these
tests have been integrated into clinical practice and how to best utilize them in
the future.
Keywords
thrombophilia - venous thromboembolism - pulmonary embolism - deep vein thrombosis
- hereditary
