The cause of inflamed bile ducts within the liver in this condition is not known. The disease more commonly affects middle-aged women. The onset of symptoms is gradual, with fatigue and itching skin as the most common first symptom.

Long-standing bile obstruction is believed to lead to liver cirrhosis. The disease may be associated with autoimmune disorders such as hypothyroidism, Raynaud's, CREST syndrome, and arthridities. There are about 3 to 15 cases per million people in the U.S. population each year.

• Itching
• Jaundice
• Enlarged liver
• Abdominal pain
• Fatty deposits under the skin
• Soft yellow spots on the eyelid
• Fatty stools

Tests that suggest or confirm the disease:

• Liver biopsy
• Mitochondrial antibodies (positive in about 95% of cases)

Tests that reveal liver dysfunction:

• Liver function tests
• Serum cholesterol and lipoproteins may be increased

Therapy is aimed at relief of symptoms and prevention of complications.

Cholestyramine (or colestipol) may reduce the itching by reducing blood levels of bile acids and increasing clearance of bile acids in the skin. Ursodeoxycholic acid may also improve clearance of bile from the bloodstream.

Vitamin replacement therapy restores fat-soluble vitamins A, K, and D lost in fatty stools. A calcium supplement is indicated to prevent osteomalacia.

Periodic evaluation and drainage with ERCP (endoscopic retrograde cholangiopancreatography) or PTC (percutaneous transhepatic cholangiography) may be necessary.

Treatment for episodes of cholangitis may be necessary.

Liver transplant for primary biliary cirrhosis prior to liver failure has been successful.

Call your health care provider if prolonged itching of the skin develops that is not related to other causes, or if jaundice or other symptoms of cirrhosis develop.

Vomiting blood, blood in the stools, confusion, abdominal swelling, and jaundice are symptoms that indicate cirrhosis may be worsening. Call your provider if these or other new symptoms develop.