Primary biliary cirrhosis is inflammation with progressive scarring of the bile ducts in the liver. Eventually, the ducts are blocked, the liver becomes scarred, and liver failure develops.

• An autoimmune reaction is the likely cause of primary biliary cirrhosis.
• Itchiness, fatigue, a dry mouth and eyes, and jaundice are common.
• A blood test to measure certain antibodies is highly accurate for the diagnosis.
• Treatment focuses on relieving symptoms, slowing liver damage, and treating complications.

Primary biliary cirrhosis is most common among women aged 35 to 70, although it can occur in men and women of any age. It tends to occur in families. The cause is not clear but is probably an autoimmune reaction (in which the immune system attacks the body's own tissues—see Autoimmune Disorders). About 95% of people with primary biliary cirrhosis have antibodies against mitochondria (tiny structures that produce energy in cells) in their blood. This disorder often occurs in people with autoimmune disorders, such as rheumatoid arthritis, scleroderma, Sjögren's syndrome, or autoimmune thyroiditis. Primary biliary cirrhosis affects only the small bile ducts inside the liver and the nearby liver cells. Another inflammatory bile duct disorder, primary sclerosing cholangitis, affects bile ducts inside and outside the liver.

Primary biliary cirrhosis begins with inflammation of the bile ducts. The inflammation blocks the flow of bile (a greenish yellow digestive fluid) out of the liver. Thus, toxic bile products are retained in the liver cells and spill over into the bloodstream. As inflammation spreads from the bile ducts to the rest of the liver, a latticework of scar tissue develops throughout the liver.

Symptoms

Usually, primary biliary cirrhosis starts very gradually. Some people have no symptoms at first.

The first symptoms often include itchiness, fatigue, and a dry mouth and eyes. Others have jaundice (a yellowish discoloration of the skin and whites of the eyes).

Other problems may not occur until months or years later. Some people have enlarged fingertips (clubbing), osteoporosis, nerve damage (neuropathy), and kidney abnormalities. People may feel discomfort in the upper abdomen. Retained fats accumulate as small yellow deposits of fat in the skin (xanthoma) or eyelids (xanthelasma).

Eventually, any of the symptoms and complications of cirrhosis can develop (see Fatty Liver, Cirrhosis, and Related Disorders: Symptoms). If bile is not able to reach the small intestine, fat absorption is impaired, including the absorption of fat-soluble vitamins (A, D, E, and K). Fat malabsorption results in osteoporosis, easy bruising and bleeding, and stools that are greasy and foul-smelling (steatorrhea). The liver and spleen may enlarge. But as scarring progresses, the liver shrinks.

Diagnosis

A doctor may suspect this disorder in middle-aged women who have typical symptoms such as fatigue and itchiness (pruritus). However, in many people, the disorder is discovered well before symptoms appear because abnormalities in liver function are detected during routine blood testing.

During the physical examination, the doctor may feel an enlarged, firm liver (in about 50% of people) or an enlarged spleen (in about 25%).

Ultrasonography or magnetic resonance imaging (MRI) of the bile duct system (called magnetic resonance cholangiography) is done to check for abnormalities or obstruction of bile ducts outside the liver. Finding no obstruction outside the liver supports the diagnosis of primary biliary cirrhosis because it identifies the liver as the site of the problem. A blood test is done to measure antibodies against mitochondria. This test is highly accurate for the diagnosis. A liver biopsy (removal of a tissue sample for examination under a microscope—see Diagnosis of Liver, Gallbladder, and Biliary Disorders: Biopsy of the Liver) may be done to confirm the diagnosis. Biopsy also helps doctors determine how advanced the disorder is (the stage).

Prognosis

The progression of primary biliary cirrhosis varies greatly but usually is slow. Symptoms may not appear for 2 years or up to 10 to 15 years. Some people become very ill in 3 to 5 years. Once symptoms develop, life expectancy is about 10 years. When itching disappears, xanthomas shrink, and jaundice develops, the disorder is advanced.

Treatment

No cure is known. Treatment focuses on relieving symptoms, slowing liver damage, and treating complications. CholestyramineSome Trade Names
QUESTRAN
or another treatment (such as ursodeoxycholic acidSome Trade Names
ACTIGALL
plus ultraviolet light, rifampinSome Trade Names
RIFADIN RIMACTANE
, or naltrexoneSome Trade Names
REVIA
) may control itchiness. Ursodeoxycholic acidSome Trade Names
ACTIGALL
appears to reduce liver damage, prolong life, and delay the need for liver transplantation.

No alcohol should be consumed. Drugs that may damage the liver are stopped.

Supplements of calcium and vitamin DSome Trade Names
See Ergocalciferol
are needed to help prevent osteoporosis or slow its progression. Weight-bearing exercises, bisphosphonates, or raloxifeneSome Trade Names
EVISTA
may also help prevent or slow osteoporosis. Vitamin ASome Trade Names
AQUASOL A
, D, E, and K supplements may be needed to correct vitamin deficiencies. Vitamins A, D, and E can be taken by mouth in a water-soluble form. Vitamin K is given by injection.

Liver transplantation (see Transplantation: Liver Transplantation) is the best treatment when the disorder is advanced.

Last full review/revision September 2007 by Eldon A. Shaffer, MD