Hereditary thrombophilias: Pathophysiology, timing of testing and familial testing

Hereditary thrombophilias result in a hypercoagulable state that predisposes to the development of venous thromboembolism (VTE). However, VTE is a multifactorial disease and acquired risk factors occur commonly, such as immobility associated with trauma, surgery or hospitalisation due to medical illnesses, malignancy, pregnancy, hormone use and ageing (Lijfering et al. 2010; Goldhaber 2010; Barco et al. 2013; Martinelli et al. 2014). Furthermore, a family history of VTE, in first-degree relatives, is associated with an increase in VTE risk, even if the known hereditary thrombophilias are not detected (Bezemer et al. 2009; Sorensen et al. 2011). In most cases, decisions about VTE management are not altered by a diagnosis of hereditary thrombophilia. Consequently, the role of thrombophilia testing in clinical practice remains controversial, despite our increasing understanding of the pathophysiology involved.