The inherited thrombophilias: genetics, epidemiology, and laboratory evaluation

Best Pract Res Clin Obstet Gynaecol. 2003 Jun;17(3):397-411. doi: 10.1016/s1521-6934(03)00010-5.


It is now possible to identify a predisposing thrombophilic condition for venous thrombosis in well over half of the cases. Certain thrombophilia diagnoses have a major impact on anticoagulant therapy, and hence it is incumbent upon physicians to understand how to diagnose and manage these conditions. This chapter covers the genetics and epidemiology of the inherited thrombophilias and provides a useful, common-sense approach to the laboratory evaluation of a patient with venous thrombosis.

Publication types

  • Review

MeSH terms

  • Antithrombin III Deficiency / genetics
  • Humans
  • Protein C Deficiency / genetics
  • Protein S Deficiency / genetics
  • Risk Factors
  • Thrombophilia / epidemiology
  • Thrombophilia / genetics*
  • Venous Thrombosis / etiology
  • Venous Thrombosis / genetics*