Related Experiment Video

Updated: Jun 29, 2025

Implementation of In Vitro Drug Resistance Assays: Maximizing the Potential for Uncovering Clinically Relevant Resistance Mechanisms
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Implementation of In Vitro Drug Resistance Assays: Maximizing the Potential for Uncovering Clinically Relevant Resistance Mechanisms

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VKORC1 polymorphisms and complete resistance to vitamin K antagonists: About two cases

Ilham Benyamna1,2, Houda El Fissi2, Fadoua Bouzid2,3

  • 1Department of Cardiology and Internal Medicine, Inezgane Provincial Hospital, Agadir, Morocco.

Biomedicine
|March 27, 2024
PubMed

Insights

Complete resistance to vitamin K antagonists, a rare condition, can be linked to specific VKORC1 gene mutations. Identifying these genetic factors is crucial for effective therapeutic management in affected patients.

Area of Science:

  • Genetics
  • Pharmacology
  • Hematology

Background:

  • Vitamin K antagonists (VKAs) are crucial anticoagulants.
  • Complete resistance to VKAs is rare but poses significant therapeutic challenges.
  • Direct oral anticoagulants may not always be suitable alternatives.

Observation:

  • Two middle-aged women presented with unexplained peripheral venous thrombosis.
  • Standard etiological assessments revealed no abnormalities.
  • Genetic testing identified specific VKORC1 gene genotypes in both patients.

Findings:

  • Both patients exhibited complete resistance to vitamin K antagonists.
  • The VKORC1 5417 GG genotype was present in both cases.
  • VKORC1 3673 genotypes were GG (case 1) and GA (case 2).

Implications:

  • Genetic identification of VKORC1 variants is key for diagnosing VKA resistance.
  • Altered treatment strategies are necessary for patients with VKA resistance.
  • Understanding these genetic factors can guide optimal patient care and management.
Keywords:
MutationsResistance to vitamin K antagonistsVKORC1

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