The predictability of factor V Leiden (FV:Q(506)) gene mutation via clotting-based diagnosis of activated protein C resistance

Clin Appl Thromb Hemost. 2004 Jul;10(3):265-70. doi: 10.1177/107602960401000309.

Abstract

After the discovery of activated protein C resistance (APCR) due to factor V Leiden mutation and the causal relationship of the phenomenon with clinical thromboembolism, a wide variety of functional clotting-based assays were developed for testing of APCR in relation to the specific DNA-based analysis of FV:Q(506) Leiden. The aim of this study is to assess a clotting-based APCR assay using procoagulant crotalidae snake venom with respect to the sensitivity, specificity, and predictability for the presence of the factor V Leiden mutation. APCR testing and factor V DNA analyses have been performed concurrently on 319 patient specimens. APCR values of the patients with homozygous factor V Leiden mutation (70.4+/-13.5 s) were significantly lower (p<0.001) in comparison to the subjects with the heterozygous mutation (87.6+/-13.4 s). The assay is highly sensitive (98.7%) and specific (91.9%) for the screening of factor V Leiden mutation. The sensitivity and specificity of the APCR testing reached to 100% below the cut-off value of 120 s among the patients with homozygous factor V Leiden mutation. Therefore, this method could help the desired effective optimal screening strategy for the laboratory search of hereditary thrombophilia focusing on the diagnosis of APCR due to FV:Q(506).

Publication types

  • Comparative Study
  • Validation Study

MeSH terms

  • Activated Protein C Resistance / blood
  • Activated Protein C Resistance / diagnosis
  • Activated Protein C Resistance / genetics*
  • Crotalid Venoms / pharmacology
  • DNA Mutational Analysis
  • Factor V / genetics*
  • Factor X / drug effects
  • Genetic Testing
  • Genotype
  • Humans
  • Partial Thromboplastin Time*
  • Polymerase Chain Reaction
  • Polymorphism, Restriction Fragment Length
  • Predictive Value of Tests
  • Sensitivity and Specificity

Substances

  • Crotalid Venoms
  • factor V Leiden
  • Factor V
  • Factor X