Primary biliary cirrhosis (PBC) is an autoimmune liver disease in which small bile ducts within the liver first become inflamed, then are destroyed. Bile backs up and causes symptoms that include chronic fatigue, which, along with pruritis (chronic itching) and jaundice, can be relieved with medical treatment. Lack of bile secretion also reduces absorption of calcium and vitamin D, which can lead to osteoporosis. Women in their forties and fifties are most commonly affected by PBC, though no one is sure exactly why. Many patients with PBC have other autoimmune diseases as well. The disease occurs more frequently among close relatives, suggesting the role of genetics in triggering the disease.
Most people with PBC will never develop cirrhosis. However, there can be significant destruction of the bile ducts over time.
Diagnosis
Diagnosis of PBC requires laboratory studies and a liver biopsy for confirmation. If results of the blood tests are positive for PBC, your doctor may then suggest a liver biopsy to confirm the diagnosis and to determine how far the liver damage has advanced.
Treatment
Most of the time, PBC responds to treatment with a bile acid known as ursodeoxycholic acid (“Urso”).
Life expectancy is not affected in PBC patients who respond well to ursodeoxycholic acid treatment. However, disease symptoms are uncomfortable enough so that new treatments are constantly being tested for those who do not respond to ursodeoxycholic acid or who can no longer tolerate symptoms.
At Mount Sinai, we have shown recently that high-dose vitamin D treatment may work well for treating PBC. In addition, a multi-center trial, in which Mount Sinai took part, investigated a new synthetic bile acid as a potential treatment for PBC.
We are also participating in an international research effort to identify the genes that make people more likely to acquire PBC. Mount Sinai researchers continue to seek the causes of this disease so they can identify ways to prevent it. Our studies have already determined that exposure to environmental toxins significantly increases the prevalence of PBC.
For most patients, the disease develops very slowly over decades. Most die from causes other than liver disease. However, for those unwilling to tolerate the uncomfortable symptoms of PBC or for whom other treatments don't work, transplantation will essentially cure the disease.
