Diagnosis and management of heritable thrombophilias

#### Summary points The term thrombophilia refers to an abnormality of blood coagulation that increases the risk of thrombosis. Such abnormalities represent one component of the triad (along with stasis and abnormalities of the vessel wall) put forward by Virchow in the 19th century to explain why thrombosis occurs. #### Sources and selection criteria We searched PubMed and the Cochrane Collaboration for recent systematic reviews and meta-analyses on thrombophilia and its epidemiology, pathophysiology, and management. We supplemented these with recent largely UK based national guidelines and with further references obtained through PubMed and through personal archives of references. Evidence on the management of symptomatic or asymptomatic people with heritable thrombophilia is weak and largely based on extrapolation from observational studies. Thrombophilic abnormalities may be heritable (the topic of this review) or acquired, although both genetic and environmental factors influence activity within the coagulation system and may interact to provoke thrombotic events.1 Clinicians in primary and secondary care may need to counsel or manage asymptomatic people or patients with venous thromboembolism (VTE) who have either a family history of venous thrombosis or a known heritable thrombophilia. …