Mutation in blood coagulation factor V associated with resistance to activated protein C

@article{Bertina1994MutationIB,
  title={Mutation in blood coagulation factor V associated with resistance to activated protein C},
  author={Rogier M. Bertina and Bobby P. C. Koeleman and Ted Koster and Frits Richard Rosendaal and Richard J Dirven and H. Ronde and Pieter A. Velden and Pieter H. Reitsma},
  journal={Nature},
  year={1994},
  volume={369},
  pages={64-67}
}
ACTIVATED protein C (APC) is a serine protease with potent anti-coagulant properties, which is formed in blood on the endothelium from an inactive precursor1. During normal haemostasis, APC limits clot formation by proteolytic inactivation of factors Va and Villa (ref. 2). To do this efficiently the enzyme needs a non-enzymatic cofactor, protein S (ref. 3). Recently it was found that the anticoagulant response to APC (APC resistance) 4 was very weak in the plasma of 21% of unselected… Expand
Resistance to activated protein C, the FV : Q506 allele, and venous thrombosis
TLDR
Individuals with combined defects of protein C or protein S suffer more severely from thrombosis, and often at a younger age, than those with single defects, suggesting severeThrombophilia to be a multigenetic disease. Expand
Resistance to activated protein C caused by the R506Q mutation in the gene for factor V is a common risk factor for venous thrombosis.
  • B. Dahlbck
  • Medicine
  • Journal of internal medicine. Supplement
  • 1997
TLDR
The high prevalence of inherited APC-resistance and the availability of easy functional and genetic tests will stimulate the development of prophylactic regimens and hopefully result in a decreased incidence of thrombosis. Expand
Resistance to activated protein C caused by the R506Q mutation in the gene for factor V is a common risk factor for venous thrombosis
The protein C system is an important natural anticoagulant pathway. Protein C is the key component of the system and it is activated by thrombin bound to thrombomodulin on the surface of endothelialExpand
Resistance to activated protein C due to a factor V gene mutation The most common inherited risk factor of thrombosis.
TLDR
The identification of APC resistance as an additional genetic risk factor in a large proportion of symptomatic protein C- and protein S-deficient families has provided evidence that thrombosis is a polygenetic disease. Expand
Laboratory Testing for Activated Protein C Resistance (APCR).
TLDR
This chapter describes an automated procedure using a commercial Russell Viper Venom-based clotting assay, and using CS-5100 and STA-R analyzers. Expand
Coagulation assay with improved specificity to factor V mutants insensitive to activated protein C.
TLDR
A coagulation assay dependent only on those mutant forms of factor V stable against proteolytic attack by APC is developed, suggesting that by simply mixing the patient sample with a factor V-deficient plasmafactor V-Leiden might be detected also in patients under oral anticoagulant therapy. Expand
Factor V Leiden and activated protein C resistance.
TLDR
This chapter reviews the most important findings, summarizes the state of the art, and discusses new developments in this rapidly evolving research area. Expand
Resistance to activated protein C due to mutated factor V as a novel cause of inherited thrombophilia.
TLDR
Plasma anticoagulant response to exogenous APC as a simple diagnostic assay of APC- resistance shows good sensitivity and specificity as compared to gene analysis, yet standardization of the results needs to be improved. Expand
No resistance to activated protein C resistance—but choose wisely
TLDR
The first guideline that addresses clinical laboratory testing recommendations for the current plethora of assays in use to detect the APC‐R phenotype is presented, proposing an algorithm to guide interpretation of available APC-R assays, to help differentiate among underlying FVL mutation, non‐Leiden factor V mutation, and acquired APC resistance. Expand
Actuated protein C resistance: From phenotype to genotype and clinical practice
TLDR
Owing to the high prevalence of activated protein C-resistance in the population, it occasionally occurs in patients with deficiency of protein S, protein C or antithrombin III, suggesting thrombophilia to be a multigenetic disease. Expand
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