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Genetic predisposition to atorvastatin-induced myopathy: a case report

M Francesca Notarangelo1, N Marziliano, M Antonietta Demola

  • 1Division of Cardiology, Azienda Ospedaliero-Universitaria of Parma, Parma, Italy. francescanotarangelo@yahoo.it

Journal of Clinical Pharmacy and Therapeutics
|May 16, 2012
PubMed
Abstract

Insights

Genetic factors, specifically the SLCO1B1 gene variant, increase the risk of statin-induced myopathy. Pharmacogenetic testing may benefit patients with a family history of statin-related muscle problems.

Area of Science:

  • Pharmacogenomics
  • Clinical Pharmacology
  • Genetics

Background:

  • Statin medications are widely prescribed for cardiovascular disease prevention.
  • Muscle-related adverse effects, from myalgia to rhabdomyolysis, are a known complication of statin therapy.
  • Genetic variations, particularly in the SLCO1B1 gene, are increasingly recognized as risk factors for statin-induced myotoxicity.

Observation:

  • Two male patients within the same family presented with severe muscle pain and weakness while on atorvastatin.
  • Both patients were found to be carriers of the loss-of-function rs4363657 polymorphism in the SLCO1B1 gene.
  • Statin discontinuation led to the resolution of symptoms in both individuals.

Findings:

  • The familial occurrence of statin-induced myopathy suggests a significant genetic predisposition.
  • The presence of the SLCO1B1 rs4363657 variant was confirmed in both affected individuals.
  • This case series highlights the role of SLCO1B1 genotype in statin myopathy risk.

Implications:

  • Genetic factors significantly influence an individual's susceptibility to statin-induced myopathy.
  • While routine genotyping before statin initiation is not currently advised, pharmacogenetic testing could be valuable for specific patient groups.
  • Patients with a family history of statin-induced myopathy may benefit from genetic screening to assess their risk.

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