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[Therapeutic consequences of thrombophilic testing]
J Constans1, C Boulon, A Solanilla
1Service de médecine vasculaire et médecine interne, hôpital Saint-André, 1, rue Jean-Burguet, 33075 Bordeaux, France. joel.constans@chu-bordeaux.fr
Thrombophilia testing offers limited impact on treatment decisions for most patients. Antiphospholipid antibodies are crucial to identify due to their known effect on recurrence risk.
Area of Science:
- Hematology
- Genetics
- Clinical Medicine
Context:
- Congenital thrombophilic testing indications have expanded with the discovery of common genetic abnormalities.
- Thrombophilia testing is often considered after venous thromboembolism events.
- The clinical utility of thrombophilia testing in specific scenarios remains under evaluation.
Purpose:
- To review current data on the consequences of thrombophilia testing.
- To critically evaluate the indications for thrombophilia testing.
- To inform clinical decision-making regarding thrombophilia diagnosis and management.
Summary:
- Most congenital thrombophilias do not significantly increase recurrence risk after venous thromboembolism.
- Factor V Leiden mutation confers a moderate increase in recurrence risk; Factor II G20210A mutation does not.
- Decreased antithrombin levels may be associated with increased recurrence risk, but evidence is inconclusive.
Impact:
- Identification of specific thrombophilias (e.g., antithrombin deficiency, homozygous mutations) can influence therapeutic decisions.
- Testing for antiphospholipid antibodies is essential due to their established impact on recurrence.
- Routine thrombophilia work-up is generally not recommended after superficial or distal venous thrombosis, except for antiphospholipid antibodies.
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