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[Venous thromboembolic disease: which coagulation screening, for whom, when?]
1Service de Pathologie Vascualire, Hôpital Erasme, Bruxelles.
Revue Medicale De Bruxelles
|October 26, 2005
Summary
Thrombophilia testing is common but often lacks predictive value. Testing is indicated for specific inherited or acquired conditions, particularly for venous thromboembolism, to identify thrombosis risk factors.
Area of Science:
- Hematology
- Genetics
- Clinical Pathology
Context:
- Thrombophilia testing is frequently performed but has limited predictive value for unselected patients.
- Thrombophilia encompasses heritable, acquired, or mixed disorders of hemostasis predisposing to thrombosis.
- Several genetic variants and defects are established risk factors for venous thromboembolism.
Purpose:
- To clarify when thrombophilia testing is indicated and which specific tests to utilize.
- To differentiate between heritable thrombophilias and acquired/mixed forms with varying arterial and venous disease associations.
- To guide appropriate laboratory investigations for thrombophilia, especially in cases of venous thromboembolism.
Summary:
- Common thrombophilia tests include assays for antithrombin, protein C, protein S deficiencies, factor V Leiden, prothrombin gene mutation, hyperhomocysteinemia, and antiphospholipid antibodies.
- Heritable thrombophilias are not strongly linked to arterial disease, unlike some acquired/mixed forms like hyperhomocysteinemia and antiphospholipid antibodies.
- Testing may also involve evaluating factor VIII levels and excluding myeloproliferative disorders based on thrombosis site.
Impact:
- Provides guidance on appropriate thrombophilia testing, improving diagnostic yield in symptomatic patients.
- Highlights the differential association of thrombophilia types with venous versus arterial thrombosis.
- Aims to optimize the clinical utility of laboratory testing for thrombotic disorders.