Progressive Familial Intrahepatic Cholestasis (PFIC) is a group of inherited conditions that affect how bile moves in the liver, which can lead to serious liver problems. Doctors usually recommend genetic testing for patients with unexplained bile issues-after ruling out more common causes-to better understand the problem. However, there isn't much information on how common these genetic changes are in adults with these liver issues, especially in Spain. This study will observe these genetic changes so that doctors can diagnose the condition more clearly and create personalized treatment plans.
This study will be conducted in several centers across Spain for 10 months. Each adult participant will take part in a single-day visit where their health information will be collected, and a blood sample will be taken for both routine tests and genetic analysis.
Adult patients (≥18 years old) with written informed consent prior to data collection and study procedures.
Unexplained recurrent and/or chronic cholestasis (idiopathic cholestasis), defined as alkaline phosphatase (ALP) or Gamma-Glutamyl Transferase (GGT) > Upper Limit of Normal (ULN).
Patients who provide the blood sample for the genetic analysis.
Primary Biliary Cholangitis
Primary or Secondary Sclerosing Cholangitis
Obstruction of the bile ducts
Other Liver diseases: cholestasis secondary to hepatocellular injury, viral hepatitis (mainly Hepatitis A virus [HAV], Hepatitis B virus [HBV] and Hepatitis C virus [HCV]), toxic hepatitis (pharmacological; drug-induced liver injury [DILI]), autoimmune hepatitis; intestinal failure, total parenteral nutrition [TPN]; Wilson's disease, choledochal cyst, Caroli Syndrome, and thick bile due to haemolysis.