Hereditary Thrombophilias

A group of genetic defects in which affected individuals have an increased tendancy to develop premature, unusual and recurrent thromboses

Aetiology

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

Clinical presentation

  • Usually does not have any symptoms, only becomes apparent when patient develops a thrombosis

Investigations

Consider hereditary thrombophilia screening if:
  • Venous thrombosis <45 years old
  • Recurrent venous thrombosis
  • Unusual venous thrombosis
  • Family history of venous thrombosis
  • Family history of thrombophilia

Management

  • Advice on avoiding risk
  • Short term prophylaxis to prevent thrombotic events during periods of known risk
  • Short term anticoagulation to treat thrombotic events
  • Long term anticoagulation if recurrent thrombotic events