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 features

• 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