[Resistance to acenocoumarol revealing a missense mutation of the vitamin K epoxyde reductase VKORC1: a case report]

Ann Cardiol Angeiol (Paris). 2015 Feb;64(1):59-61. doi: 10.1016/j.ancard.2013.08.018. Epub 2013 Sep 10.
[Article in French]

Abstract

A significant proportion of the interindividual variability of the response to vitamin K antagonist (VKA) treatment has been associated with genetic factors. Genetic variations affecting the vitamin K epoxide reductase complex subunit 1 (VKORC1) are associated with hypersensitivity or rarely with resistance to VKA. We report the case of a black women patient who presents a resistance to acenocoumarol. Despite the use of high doses of acenocoumarol (114 mg/week) for the treatment of recurrent pulmonary embolism, the International Normalized Ratio was below the therapeutic target. This resistance to acenocoumarol was confirmed by the identification of a missense mutation Val66Met of the vitamin K epoxide reductase.

Keywords: Mutation Val66Met vitamin K epoxide reductase; Mutation Val66Met vitamine K époxyde réductase; Resistance to acenocoumarol; Résistance acénocoumarol.

Publication types

  • Case Reports

MeSH terms

  • Acenocoumarol / therapeutic use*
  • Adult
  • Anticoagulants / therapeutic use*
  • Drug Resistance / genetics*
  • Female
  • Humans
  • Mutation, Missense*
  • Pulmonary Embolism / drug therapy*
  • Vitamin K Epoxide Reductases / genetics*

Substances

  • Anticoagulants
  • VKORC1 protein, human
  • Vitamin K Epoxide Reductases
  • Acenocoumarol