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Venous Thromboembolism: Genetics and Thrombophilias
Manila Gaddh1, Rachel P Rosovsky2
1Department of Hematology and Medical Oncology, Emory University School of Medicine, Atlanta, Georgia.
Seminars in Respiratory and Critical Care Medicine
|March 11, 2021
Summary
Testing for hereditary thrombophilia in venous thromboembolism (VTE) patients is common, but its clinical utility is debated. Understanding risks, benefits, and guidelines is crucial for appropriate VTE management.
Area of Science:
- Medical Science
- Hematology
- Genetics
Background:
- Venous thromboembolism (VTE) is a significant global health concern.
- Up to 50% of VTE patients have an underlying thrombophilic defect.
- Family history of VTE independently increases risk.
Purpose of the Study:
- To review validated hereditary thrombophilias and their VTE association.
- To evaluate the risks and benefits of thrombophilia testing.
- To discuss testing controversies, guidelines, and clinical integration.
Main Methods:
- Literature review of hereditary thrombophilias.
- Analysis of VTE risk factors and testing implications.
- Synthesis of current clinical practice guidelines.
Main Results:
- Identified validated hereditary thrombophilias, their prevalence, and VTE association.
- Highlighted that identifying a defect doesn't always alter outcomes or therapy.
- Emphasized the independent risk conferred by family history.
Conclusions:
- Thrombophilia testing in VTE requires careful consideration of risks and benefits.
- Clinical utility and appropriate patient selection for testing remain areas of active discussion.
- Future integration necessitates optimized utilization of genetic testing in VTE management.
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