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The utility of thrombophilia testing.
Clinical Chemistry and Laboratory Medicine
|August 16, 2013
Summary
Inherited thrombophilic traits improve understanding of venous thromboembolism. Appropriate thrombophilia testing benefits patients and their families.
Area of Science:
- Medical Genetics
- Hematology
- Clinical Pathology
Background:
- Recognition of inherited thrombophilic traits has advanced understanding of venous thromboembolism (VTE) pathogenesis.
- These traits explain approximately half of all idiopathic VTE cases.
- Thrombophilia testing has significantly increased for various clinical indications.
Purpose of the Study:
- To analyze current indications for commonly tested thrombophilic abnormalities.
- To evaluate the clinical utility of thrombophilia testing.
Main Methods:
- Review of current clinical guidelines and literature.
- Analysis of indications for Factor V Leiden, prothrombin G20210A mutation, protein C, S, and antithrombin deficiencies testing.
Main Results:
- Factor V Leiden and prothrombin G20210A mutation are common inherited thrombophilias.
- Deficiencies in protein C, S, and antithrombin are also significant inherited risk factors for VTE.
- Appropriate application of testing is crucial for clinical decision-making.
Conclusions:
- Thrombophilia testing, when appropriately indicated, positively impacts patient care.
- Testing can guide management and risk assessment for individuals and their relatives.
- Further research may refine indications and improve the cost-effectiveness of testing.
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