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Medical Author:

John M. Vierling, MD, FACP

John M. Vierling, MD, FACP

John M. Vierling M.D. is Professor of Medicine and Surgery at the Baylor College of Medicine in Houston, Texas, where he also serves as Director of Baylor Liver Health and Chief of Hepatology. In addition, he is the Director of Advanced Liver Therapies, a center devoted to clinical research in hepatobiliary diseases at St. Luke's Episcopal Hospital. Dr. Vierling is board certified in internal medicine and gastroenterology and a Fellow of the American College of Physicians.

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Medical Editor:

Leslie J. Schoenfield, MD, PhD

Leslie J. Schoenfield, MD, PhD

Dr. Schoenfield served as associate professor of medicine and consultant in gastroenterology on the faculty of the Mayo Clinic for seven years. He became a professor of medicine in residence at UCLA from 1972 to 1999 (now emeritus). He was the director of gastroenterology at Cedars-Sinai Medical Center in Los Angeles for 25 years, where he received the chief resident's teaching award, the president's award, and the pioneer of medicine award.

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In this Article

• What is PBC?
• What is the scope of the problem?
• What is the cause of PBC?
• What are the symptoms and physical findings in PBC?
• What manifestations are specifically due to PBC itself?
• What are the manifestations of the complications of cirrhosis in PBC?
• What are the manifestations of diseases associated with PBC?
• What are risk factors for PBC?
• How is PBC diagnosed?
• What is the role of blood tests?
• What is the role of testing for antimitochondrial antibodies?
• What is the role of imaging tests?
• What is the role of liver biopsy?
• What are the criteria for a definitive diagnosis of PBC
• What is the course of natural progression in PBC?
• What are the sequential clinical phases of PBC?
• What is the role of mathematical models in predicting the outcome (prognosis) in PBC?
• What about pregnancy in PBC?
• Patient Comments: Primary Biliary Cirrhosis - Symptoms
• Patient Comments: Primary Biliary Cirrhosis - Diagnosis
• Find a local Gastroenterologist in your town
• Primary Biliary Cirrhosis Index

What is the role of genetics?

PBC is not transmitted by heredity from parents with the disease to their children. Thus, PBC is not a classical hereditary (genetic) disease, as is diabetes, for example. Clearly, however, the genes of our immune system control human responses to infections with bacteria and viruses. The genes of the immune system also control the risk of developing autoimmune diseases. Studies have shown that there are some weak associations between PBC and certain specific inherited genes of the immune system. The fact that many people without PBC also have these identical immune genes indicates that the genes themselves do not determine if a patient develops the disease.

Accordingly, it appears likely that some immune genes create susceptibility for PBC, but the disease does not occur without additional events. Besides that, certain other immune genes may control progression of the disease. These genes are more common in patients with advanced PBC than in patients with the earlier stages of PBC. Indeed, recently, additional genes involved in immune signaling were found to be markers of both susceptibility and disease progression. Studies currently being conducted on patients whose close relatives also have PBC may clarify exactly which genes are associated with susceptibility and progression of PBC.

The symptoms and physical signs (findings) in patients with PBC can be divided into those manifestations due to:

• PBC itself
• Complications of cirrhosis in PBC
• Diseases often associated with PBC

Table 2 lists the multiple signs and symptoms (manifestations) of primary biliary cirrhosis, its assciated diseases, and the complications of the cirrhosis.

Patients with PBC, however, very often do not have any symptoms. In the large study of 770 patients with PBC in northern England, 56% had no symptoms at the time of diagnosis.