Genotype-phenotype Relationship Between Cryptogenic Cholestasis and Familial Intrahepatic Cholestasis

Genotype-phenotype Relationship Between Adult Cryptogenic Cholestasis and Mutations in Genes Responsible for Progressive Familial Intrahepatic Cholestasis

Genotype-phenotype relationship between adult cryptogenic cholestasis and mutations in genes responsible for progressive familial intrahepatic cholestasis

Due to the high number of unsolved cases of adults with cholestatic liver disease, it is crucial to determine the prevalence of PFIC gene mutations and gather information on various clinical presentations that often coexist. This will help identify risk factors related to the disease and its progression, ultimately allowing for personalized treatment options for affected patients.

This multicenter, retrospective observational study will collect data on patients with cholestatic liver diseases (CCLDs) from May 2013 until the study begins. Diagnoses of PFIC/CCLD/HBC will be confirmed through imaging studies, excluding other liver disease causes.

Inclusion Criteria:

• age ≥ 18 years
• diagnosis of PFIC/CCLDs/HBCs
• obtaining informed consent

Exclusion Criteria:

• Another documented cause of chronic liver disease capable of justifying the clinical phenotype