Use of genetic analysis in adult cholestatic liver disease: lessons from progressive paediatric syndromes and cohort studies.

Genetic variants in PFIC-associated genes are increasingly identified in adult cholestatic liver disease, enabling personalized treatment strategies for over 20 genes.

• Why it matters: Understanding the genetic basis of cholestatic liver diseases is crucial for improving diagnosis and tailoring effective therapies, especially as sequencing becomes more accessible.
• What they did: The authors reviewed 20+ studies on the genetics of pediatric, juvenile, and adult cholestasis, focusing on variants in ABCB4, ABCB11, ATP8B1, and other related genes, and their implications for treatment.
• The result: This work highlights how genetic insights can guide the use of targeted therapies like IBAT inhibitors and ursodeoxycholic acid, advancing personalized medicine for cholestatic patients across age groups.