Mnemonic

Thrombophilia Screening

A memory aid for inherited and acquired thrombophilia.

Expansion

Factor V Leiden is commonest inherited; antiphospholipid syndrome commonest acquired

Expansion

Inherited

  • Factor V Leiden: activated protein C resistance; commonest, present in about 5 per cent of Europeans
  • Prothrombin G20210A mutation
  • Protein C, protein S and antithrombin deficiency: rarer but higher risk

Acquired

  • Antiphospholipid syndrome: lupus anticoagulant, anticardiolipin and anti-beta2 glycoprotein antibodies. Causes both arterial and venous thrombosis and recurrent miscarriage, and paradoxically prolongs the APTT in vitro
  • Malignancy, pregnancy, oestrogens, nephrotic syndrome, myeloproliferative disease, paroxysmal nocturnal haemoglobinuria
  • Immobility, surgery, obesity, smoking

Virchow’s triad remains the organising principle: stasis, endothelial injury and hypercoagulability.

Testing caveats: protein C and S are vitamin K dependent so are falsely low on warfarin; antithrombin is consumed in acute thrombosis and reduced by heparin; and factor V Leiden and prothrombin gene testing are unaffected by either. Most tests should be deferred until at least 3 months after the event and off anticoagulation.