| Interventions |
Group 1: Patients with atypical PBC (defined as AMA-negative PBC without histological confirmation), or atypical PSC (defined as large- or small-duct PSC without concomitant inflammatory bowel disease (IBD)); whole exome sequencing (WES) with digital panel analysis of 46 cholestasis-associated genes is performed in these patients to identify individuals with a hereditary cholestatic liver disease in this cohort. For this purpose, an additional blood sample is taken once. Furthermore, the clinical and laboratory characteristics of the disease are extracted from the patient record. For comparison, genetic data and patient characteristics are also determined and recorded for patients with confirmed PBC or PSC (Arm 2) and for healthy control subjects (Arm 3). Group 2: Patients with confirmed diagnosis of PBC or PSC (disease controls) Group 3: Patients with hepatitis C virus infection in sustained virological response after antiviral therapy, with normal liver values and no indication of structural liver damage (healthy controls) |