Primary biliary cirrhosis Dr Trisha Macnair Primary biliary cirrhosis (PBC) is a slow, progressive liver disease in which the bile ducts are attacked by the body's own immune system.

In this article

What is primary biliary cirrhosis? Symptoms

Causes and risk factors Treatment and recovery

Advice and support

PBC is an autoimmune condition, where the body attacks itself. The bile ducts (tiny tubes throughout the liver that drain bile into the gallbladder) become inflamed and scarred, causing bile acids to leak into the liver tissue, eventually resulting in cirrhosis.

Symptoms usually appear in mid-life, from 50 years of age, although it can start much earlier or later. However, in as many as four out of five cases, there are no symptoms until late in the disease when the liver has become severely damaged. In these cases PBC may be discovered accidentally during other medical checks.

Possible symptoms include:

• Tiredness, which can be extreme.
• Nausea.
• Poor appetite.
• Skin problems such as blotchy red palms, easy bruising and intense itching.
• Dryness of the eyes and mouth.
• Pain in the joints and bones.
• Persistent abdominal pain on the right (up towards the ribs, over the liver).
• Diarrhoea.
• Yellowing of the skin and eyes known as jaundice (jaundice may also lead to dark urine and pale faeces).

Although the exact cause isn't yet known, genetic factors play a part in this and other autoimmune diseases and it's likely a complex array of genes are involved.

For example, the activity of many genes known to be linked to liver inflammation, fibrosis and regeneration is increased in PBC, but it's not clear whether this genetic overactivity is the result of some other trigger factor, such as an infection or toxin, or is the cause itself.

PBC affects nine times more women than men, and is more likely to occur in families where one member is already known to be affected.

Although found all over the world, PBC is more common in northern Europeans, with as many as one in 1,000 women affected (although the illness may be mild and not cause symptoms).

Several genes commonly found in those with autoimmune disease have been identified but no single PBC gene is known.

Smoking is also an important factor, doubling the risk of PBC.

Diagnosis is easily made using a blood test for anti-mitochondrial antibody (AMA), which is nearly always positive, combined with the pattern of symptoms. Sometimes a liver biopsy is recommended to confirm the diagnosis.

There's no cure, but treatments can reduce symptoms and slow progression of the disease. A drug called ursodeoxycholic acid (UDA) may help prevent liver damage in the early stages of the condition by changing the composition of the bile and reducing inflammation of the liver. However, results are controversial and some argue that it makes little difference. Another drug, cholestyramine, can help one of the main symptoms, itchiness, by reducing the amount of bile in the blood.

Eventually, as the liver progressively fails, a liver transplant may be needed.

Antenatal screening isn't possible.

PBC Foundation

Email: info@pbcfoundation.org.uk
Website: www.pbcfoundation.org.uk

This article was last medically reviewed by Dr Trisha Macnair in July 2009.