Primary biliary cirrhosis: Epidemiology, presentation and natural history

Primary biliary cirrhosis is a chronic, progressive, cholestatic liver disease of unknown etiology, characterized by inflammatory destruction of intrahepatic bile ducts. Although no proper epidemiological studies have been performed, a prevalence of 100-150 patients per million seems realistic. Increased medical awareness and availability of proper diagnostic tools may explain the apparent rise over time in prevalence and the uneven geographical distribution of the disease. Despite the increasing recognition of primary biliary cirrhosis, the mean age at diagnosis remains stable, thus suggesting that different patterns of the disease may be possible. Clinical features of primary biliary cirrhosis at presentation have changed over time, showing a substantial increase in the number of asymptomatic patients. Interestingly, mean age at presentation does not differ among those patients presenting with or without symptoms, or even with complications. On this basis, it is suggested that the apparently changing spectrum of the disease is in fact due to a more frequent recognition rather than to an earlier diagnosis of patients with a similar course of the disease. Prognosis has been shown to be related to clinical presentation. In fact, asymptomatic patients survive longer than symptomatic patients and, at least for a subgroup of them, survival may be similar to that of healthy subjects. Management of symptoms and complications of primary biliary cirrhosis is, at least in part, well established, whereas there is no treatment of proven efficacy for the underlying disease. It is evident that for patients with advanced disease, liver transplantation remains the only therapeutic option. Regarding medical treatment, the most promising results have been obtained with ursodeoxycholic acid.