Clinical Review

Diagnosis and management of heritable thrombophilias

BMJ 2014; 349 doi: https://doi.org/10.1136/bmj.g4387 (Published 17 July 2014) Cite this as: BMJ 2014;349:g4387
  1. Peter MacCallum, senior lecturer in haematology12,
  2. Louise Bowles, consultant haematologist2,
  3. David Keeling, consultant haematologist3
  1. 1Wolfson Institute of Preventive Medicine, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, UK
  2. 2Department of Haematology, Barts Health NHS Trust, London, UK
  3. 3Oxford Haemophilia and Thrombosis Centre, Oxford University Hospitals, Oxford, UK
  1. Correspondence to: P MacCallum p.k.maccallum{at}qmul.ac.uk

Summary points

  • Heritable thrombophilias increase the risk of venous thromboembolism (VTE) and are present in about 5% of the population, but most carriers never experience a deep vein thrombosis or pulmonary embolism

  • Diagnosis of heritable thrombophilia does not affect acute management and rarely affects the long term management of VTE

  • Testing for heritable thrombophilias should not be offered to people with deep vein thrombosis or pulmonary embolism without agreement of how and why the result would alter management

  • Since a family history of VTE is itself a risk factor for VTE, testing for heritable thrombophilias in asymptomatic people with a family history of deep vein thrombosis or pulmonary embolism is rarely required, and the finding of a negative test result may provide false reassurance

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. …

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