A descriptive case series of hepatotoxicity associated with CFTR modulators and possible relevance of pharmacogenetic polymorphisms in cystic fibrosis patients.
Clara Laffitte Redondo, Venceslas Bourdin, Abd El Kader Ait Tayeb et al.
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Case in brief
This case series reports six instances of hepatotoxicity in cystic fibrosis patients undergoing treatment with CFTR modulators. The RECAM score was utilized to assess the severity of liver damage. Notably, the CYP3A4*22 allele was found at a higher frequency in these patients compared to the general European population, suggesting a potential link between this genetic variant and increased liver toxicity from the medications.
What made this case unusual
The higher frequency of the CYP3A4*22 allele in the studied population compared to the European population is noteworthy, as it may contribute to reduced CYP3A activity and increased risk of hepatotoxicity.
Diagnostic / clinical pearl
Clinicians should consider the role of pharmacogenetic polymorphisms, particularly CYP3A4*22, when evaluating liver toxicity in cystic fibrosis patients treated with CFTR modulators.
Why it matters
Understanding the genetic factors influencing drug metabolism can help identify patients at higher risk for hepatotoxicity, potentially guiding monitoring and management strategies.