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Related Experiment Videos

Activated protein C resistance, the factor V Leiden mutation, and a laboratory testing algorithm.

Elizabeth M Van Cott1, Britt L Soderberg, Michael Laposata

  • 1Division of Laboratory Medicine, Department of Pathology, Massachusetts General Hospital and Harvard Medical School, Boston 02114, USA.

Archives of Pathology & Laboratory Medicine
|April 18, 2002
PubMed
Summary

Factor V Leiden is a common genetic mutation that increases the risk of venous thrombosis, particularly in white populations. This review proposes a laboratory testing algorithm for activated protein C resistance.

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Area of Science:

  • Hematology
  • Molecular Genetics
  • Clinical Pathology

Background:

  • The protein C/protein S pathway is crucial for anticoagulation, regulating fibrin formation by degrading factors Va and VIIIa.
  • Activated protein C resistance, often due to the Factor V Leiden mutation, impairs this pathway, elevating thrombosis risk.
  • Factor V Leiden is a significant genetic risk factor for venous thromboembolism, especially prevalent in Caucasian populations.

Purpose of the Study:

  • To synthesize current knowledge on Factor V Leiden and activated protein C resistance.
  • To outline the clinical significance and laboratory detection methods for these conditions.
  • To propose an evidence-based laboratory testing algorithm.

Main Methods:

  • Comprehensive literature search of MEDLINE and author-held publications up to mid-2001.

Related Experiment Videos

  • Inclusion of original studies detailing novel findings in testing or clinical features.
  • Analysis and synthesis of key findings from selected research.

    • Main Results:

    • The Factor V Leiden mutation confers resistance to activated protein C, disrupting normal anticoagulation.
    • This resistance leads to an increased predisposition to thrombotic events.
    • The report details the molecular basis, clinical implications, and diagnostic approaches.

    Conclusions:

    • Factor V Leiden is a well-established risk factor for venous thrombosis.
    • The prevalence of Factor V Leiden is notably higher in individuals of white descent.
    • A structured laboratory testing algorithm for Factor V Leiden and activated protein C resistance is presented.