Thrombophilia Screening

• The result whether positive or negative, rarely contributes to the management of any patient.
• Some 5 to 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 oral contraceptive pills (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.

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

• 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. Oral contraceptive pills or HRT) - will produce false positives.
• In asymptomatic patients / family members under 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.