Factor V Leiden as a Common Genetic Risk Factor for Venous Thromboembolism

Authors

  • McDonald K. Horne III,

    1. McDonald K. Horne, III, MD, Senior Clinical Investigator, Hematology, Department of Laboratory Medicine; Donna Jo McCloskey, RN, PhD, Training Coordinator/Nurse Consultant, National Institute of Nursing Research; both at the National Institutes of Health, Bethesda, MD. Correspondence to Dr. McCloskey, National Institutes of Health, 31 Center Drive, Rm. 5B-13, Bethesda, MD, 20892. E-mail: mccloskd@mail.nih.gov
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  • Donna Jo McCloskey

    1. McDonald K. Horne, III, MD, Senior Clinical Investigator, Hematology, Department of Laboratory Medicine; Donna Jo McCloskey, RN, PhD, Training Coordinator/Nurse Consultant, National Institute of Nursing Research; both at the National Institutes of Health, Bethesda, MD. Correspondence to Dr. McCloskey, National Institutes of Health, 31 Center Drive, Rm. 5B-13, Bethesda, MD, 20892. E-mail: mccloskd@mail.nih.gov
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Abstract

Purpose: To increase nurses' knowledge of the Factor V Leiden (FVL) genetic trait for venous thromboembolism.

Organizing Framework: An overview of the history, prevalence, and predisposition of the FVL genetic mutation, including who should be tested and how and in what circumstances people with FVL should be treated.

Findings: FVL is the most commonly recognized genetic trait associated with venous thrombosis. It is found predominantly in Caucasian populations. Biochemically it causes “activated protein C resistance (APCR).” The decision to test for FVL depends on whether the information gained will potentially improve the health care of the person or family. For people who have had deep venous thrombosis, testing for FVL will likely not alter treatment approaches. Currently the advantage for testing is primarily limited to asymptomatic family members who carry FVL and who have had deep vein thrombosis. Close relatives who also carry the mutated gene might benefit from prophylactic anticoagulation when their risk of thrombosis is increased by temporary factors such as surgery.

Conclusions: Nurses are in a unique position to provide accurate information and counseling when patients and their family members are presented with the results of thrombophilia testing.

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