Primary biliary cirrhosis

Orphanet J Rare Dis. 2008 Jan 23:3:1. doi: 10.1186/1750-1172-3-1.

Abstract

Primary biliary cirrhosis (PBC) is a chronic and slowly progressive cholestatic liver disease of autoimmune etiology characterized by injury of the intrahepatic bile ducts that may eventually lead to liver failure. Affected individuals are usually in their fifth to seventh decades of life at time of diagnosis, and 90% are women. Annual incidence is estimated between 0.7 and 49 cases per million-population and prevalence between 6.7 and 940 cases per million-population (depending on age and sex). The majority of patients are asymptomatic at diagnosis, however, some patients present with symptoms of fatigue and/or pruritus. Patients may even present with ascites, hepatic encephalopathy and/or esophageal variceal hemorrhage. PBC is associated with other autoimmune diseases such as Sjogren's syndrome, scleroderma, Raynaud's phenomenon and CREST syndrome and is regarded as an organ specific autoimmune disease. Genetic susceptibility as a predisposing factor for PBC has been suggested. Environmental factors may have potential causative role (infection, chemicals, smoking). Diagnosis is based on a combination of clinical features, abnormal liver biochemical pattern in a cholestatic picture persisting for more than six months and presence of detectable antimitochondrial antibodies (AMA) in serum. All AMA negative patients with cholestatic liver disease should be carefully evaluated with cholangiography and liver biopsy. Ursodeoxycholic acid (UDCA) is the only currently known medication that can slow the disease progression. Patients, particularly those who start UDCA treatment at early-stage disease and who respond in terms of improvement of the liver biochemistry, have a good prognosis. Liver transplantation is usually an option for patients with liver failure and the outcome is 70% survival at 7 years. Recently, animal models have been discovered that may provide a new insight into the pathogenesis of this disease and facilitate appreciation for novel treatment in PBC.

Publication types

  • Review

MeSH terms

  • Aged
  • Antibodies, Antinuclear
  • Autoimmune Diseases / physiopathology*
  • Cholagogues and Choleretics / therapeutic use
  • Female
  • Humans
  • Liver Cirrhosis, Biliary / diagnosis
  • Liver Cirrhosis, Biliary / drug therapy
  • Liver Cirrhosis, Biliary / immunology*
  • Liver Cirrhosis, Biliary / physiopathology*
  • Liver Transplantation
  • Male
  • Middle Aged
  • Sex Factors
  • Ursodeoxycholic Acid / therapeutic use

Substances

  • Antibodies, Antinuclear
  • Cholagogues and Choleretics
  • Ursodeoxycholic Acid