What are the hereditary thrombophilias?

Updated: Jan 05, 2018
  • Author: Paul Schick, MD; Chief Editor: Srikanth Nagalla, MBBS, MS, FACP  more...
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Answer

Hereditary thrombophilias should be suspected in individuals with a history of recurrent thromboembolism, thrombosis at a young age, and/or a family history of thrombosis. Hereditary thrombophilias include the following:

  • Factor V Leiden
  • Prothrombin 20210A
  • Protein C deficiency
  • Protein S deficiency
  • Antithrombin deficiency

Deficiencies of anticoagulant factors may also be acquired.

The objectives of this article are to provide an overview of hereditary thrombophilia and acquired hypercoagulability, to discuss indications for initiating a workup, and to review the selection and interpretation of laboratory tests for these disorders. The indications and options for anticoagulant therapy and prophylaxis, as well as the advantages and adverse effects of low molecular weight heparin (LMWH), direct thrombin, and factor Xa inhibitors are discussed.

For patient education information, see Blood ClotsInherited Blood-Clotting Problems, and the Deep Vein Thrombosis Health Center.


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