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.
150 patients, both male and female, of age (≥ 18 years) with unexplained recurrent and/or chronic cholestasis (idiopathic cholestasis) will be recruited
Cohort
Cross-sectional
Not listed
Percentage of Participants with at least One Variant in PFIC-Related Genes
Defined as the percentage of participants with at least one variant in PFIC-related genes in relation to the total number of participants with idiopathic recurrent and/or chronic cholestasis of the study cohort as an assessment of prevalence.
Percentage of Participants Carrying Each Identified Variant of Genes related to PFIC
Defined as the percentage of participants carrying each identified variant of genes related to PFIC.
Demographic Data: Age at Enrollment
Defined as the mean age of participants recorded at the time of enrollment, as noted in medical records, stratified by the PFIC type - comparing those with the most prevalent PFIC variant against all other participants.
Demographic Data: Sex at Enrollment
Defined as the count of sex of participants recorded at the time of enrollment, as noted in medical records, stratified by the PFIC type - comparing those with the most prevalent PFIC variant against all other participants.
Demographic Data: Race/Ethnicity at Enrollment
Defined as the race/ethnicity of participants recorded at the time of enrollment, as noted in medical records, stratified by the PFIC type - comparing those with the most prevalent PFIC variant against all other participants.
