Genetic thrombophilia

Prim Care. 2004 Sep;31(3):685-709, xi. doi: 10.1016/j.pop.2004.04.014.


The genetic thrombophilias are an important cause of venous thrombotic events. Much has been learned about the natural history of these disorders, their genetics, and, to a lesser degree, their treatment. This article provides an overview of the genetics of thrombophilia. Specific information on the factor V Leiden mutation;the prothrombin G20210A mutation; and protein C, proteinS, and antithrombin deficiency is reviewed. Current testing and treatment options for the genetic thrombophilias also are discussed.

Publication types

  • Review

MeSH terms

  • Adult
  • Aged
  • Child
  • Factor V / genetics
  • Female
  • Humans
  • Male
  • Prothrombin / genetics
  • Thrombophilia / diagnosis
  • Thrombophilia / genetics*
  • Thrombophilia / therapy
  • Venous Thrombosis / etiology*
  • Venous Thrombosis / genetics
  • Venous Thrombosis / prevention & control


  • factor V Leiden
  • Factor V
  • Prothrombin