Thrombophilia testing (Guidelines)

A “thrombophilia screen” is a test for a variety of factors predisposing for venous thrombosis. With the exception of lupus anticoagulant (see above), the results are irrelevant for the management of arterial thrombosis. For patients with unexplained arterial thrombosis different tests may be appropriate and should be discussed with the appropriate specialist (e.g. stroke physician, cardiologist, vascular surgeon).

There are surprisingly few indications for thrombophilia testing and it is not usually appropriate outside of specialist thrombosis clinics. This is because:

• The test is not exhaustive so a negative test does not rule out an inherited tendency to thrombosis.
• Most people who carry the most common prothrombotic abnormalities e.g. factor V Leiden will never have a thrombosis, so a positive result should not influence Screening asymptomatic family members is therefore not advised.
• Patients with a provoked thrombosis would usually have a time-limited period of anticoagulation and stop regardless of a thrombophilia screen result.
• Patient with unprovoked thrombosis are often offered on going anticoagulation, regardless of a thrombophilia screen result.
• A family history of venous thrombosis in a first degree relative is a relative contraindication to the use of oestrogen containing contraceptives/HRT irrespective of the presence or absence of a defined thrombophilia

A laboratory demand management process is in place to reject requests that have not been agreed by a Consultant haematologist. Contact a haematologist via Clinical Dialogue (GPs) or email BEFORE sending a sample.

When deciding on whether to perform a thrombophilia screen we generally follow this guideline from the British Society for Haematology: British Journal of Haematology | Wiley Online Library