Thrombophilia Screening

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Why not to...
  • The result whether positive or negative, rarely contributes to the management of any patient.
  • Some 5-10% of the population, of European origin, will have a genetic 'thrombophilia' BUT very few ever develop thrombosis.
  • Thrombophilia screening in unselected patients prior to OCP or HRT use is not cost effective (screen 20,000 women to prevent 1 VTE, 2,000,000 to prevent 1 death).
  • A 'negative' result does not exclude thrombophilia due to as yet unidentified causes.
When might it be appropriate...

Only after appropriate counselling and the patient is in one of the categories below

When not to...
  • At Presentation of a thrombotic event - may give false positives.
  • During anticoagulant therapy - will produce false positives.
  • During Pregnancy - will produce false positives.
  • During Oestrogen therapy (e.g. OCP or HRT) - will produce false positives.
  • In asymptomatic patients / family members < 18 years of age
  • If the Patient has suffered only arterial thromboses - such thromboses are not associated with hereditary thrombophilia. Consider lupus anticoagulant & anticardiolipin antibody testing in such patients who present at an unusually young age.
Editorial Information

Last reviewed: 31 March 2016

Next review: 31 March 2018

Author(s): Consultant Haematologist

Version: 2

Approved By: high-uhb.tam@nhs.net

Reviewer Name(s): Dr Jo Craig

Document Id: TAM222