Genotype-phenotype correlations in PFIC

The EASL guidelines on the clinical management of hereditary cholestatic liver disease, published in 2024, suggest that genetic testing should be performed as early as possible in the diagnostic process after ruling out common causes. Along with a better understanding of the genes and proteins involved in biliary homeostasis and the increasing availability of genetic testing, more and more patients with adult-onset cholestasis are being tested for cholestasis genes that play a role in progressive intrahepatic familial cholestasis (PFIC).