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

Genetic variants in ABCB4, ABCB11, and ATP8B1 are linked to a spectrum of adult and paediatric cholestatic liver diseases, including PFIC types 1-3.

• Why it matters: Understanding the genetic basis of cholestatic liver diseases is crucial for developing targeted therapies and personalized treatment strategies, especially with new therapeutics like IBAT inhibitors.
• What they did: The review summarizes studies on the genetic makeup of patients with paediatric, juvenile, and adult-onset cholestasis, focusing on genotype-specific treatment options such as IBATi, ursodeoxycholic acid, or other drugs.
• The result: Identifying common genetic variants can guide future sequencing efforts and enable tailored treatments, potentially improving symptom management and outcomes in cholestatic liver disease patients.