Primary biliary cirrhosis (PBC) is a chronic cholestatic liver disease of unknown aetiology that is characterized by progressive destruction of the intrahepatic bile ducts1. It eventually leads to liver cirrhosis and failure over a period of time that can vary widely among patients2. The only treatments currently accepted are lifelong therapy with ursodeoxycholic acid (UDCA) and liver transplantation1. The former has been shown to delay disease progression when used at appropriate doses3 while the latter is often burdened by disease recurrence but overall characterized by high survival rates4. It is currently accepted that PBC pathogenesis is multifactorial, with genetic and environmental factors interplaying to determine disease onset and progression. Epidemiological data are a powerful tool to determine new potential candidates for the pathogenesis and aetiology of diseases. In the case of PBC, epidemiological data can be divided into three main categories with different implications: i.e. familial, twin, or clustered cases; geographical patterns; and risk factors.
展开▼
