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Retrospective pharmacogenetic analysis of a pediatric patient under anticoagulant treatment: Clinical case

Mirta Cavieres1, Marcelo Suárez2, Gabriel Verón3

  • 1Laboratorio Clínico, Hospital Dr. Luis Calvo Mackenna, Santiago, Chile. biomedica@ins.gov.co.

Biomedica : Revista Del Instituto Nacional De Salud
|September 24, 2021
PubMed

Insights

Pharmacogenetic analysis revealed a young patient with dilated cardiomyopathy required a lower dose of acenocoumarol due to genetic factors affecting drug metabolism. This highlights the importance of genetic testing for personalized anticoagulation therapy.

Area of Science:

  • Pharmacogenomics
  • Cardiology
  • Clinical Pharmacology

Background:

  • Antivitamin K (AVK) drugs, like acenocoumarol, have a narrow therapeutic range and variable patient response.
  • Dilated cardiomyopathy can complicate anticoagulation management.
  • Standard dosing protocols may not be suitable for all patients, particularly pediatric cases.

Observation:

  • A 10-year-old patient with dilated cardiomyopathy experienced supratherapeutic International Normalized Ratio (INR) values with standard acenocoumarol doses.
  • Treatment required frequent adjustments, leading to interruptions and restarts.
  • Stable INR levels were eventually achieved with half the standard dose after an extended period.

Findings:

  • Retrospective pharmacogenomic analysis identified specific genetic polymorphisms (VKORC1 rs9923231 homozygous, CYP4F2 rs2108622 heterozygous).
  • This genetic profile is strongly associated with reduced sensitivity to AVK drugs, necessitating lower maintenance doses.
  • The patient's genetic makeup explained the need for a significantly lower acenocoumarol dose than typically recommended.

Implications:

  • Pre-treatment pharmacogenetic testing could optimize anticoagulation therapy initiation and reduce risks of bleeding or thrombosis.
  • Personalized dosing based on genetic profiles is crucial for managing highly variable drug responses.
  • This case underscores the value of pharmacogenomics in tailoring AVK therapy, especially in pediatric patients with complex conditions.

Keywords:
Acenocoumarolpharmacogeneticsanticoagulantsvitamin K

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