This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
Primary biliary cholangitis (PBC) is a chronic, progressive liver disease in which the bile ducts become inflamed and damaged. This leads to the buildup of bile and causes liver problems such as scarring, cirrhosis (scarring and poor liver function), and eventual liver failure. PBC is more common in women. Many people do not have symptoms when they are first diagnosed and may not develop symptoms for several years. Early symptoms may include fatigue (the most common symptom), itchy skin (pruritus), and abdominal pain. As the disease progresses, people with PBC may develop weakness, nausea, diarrhea, swelling in the legs and feet (edema), bone and joint pain, jaundice, dark urine, and xanthomas. The symptoms of PBC can significantly impair quality of life.
The diagnosis of PBC may involve blood tests, imaging studies (such as X-ray or ultrasound), and sometimes, a liver biopsy. Blood tests may include tests for anti-mitochondrial antibodies (which may confirm the diagnosis), liver function tests, and cholesterol tests. Abnormal blood test results commonly lead to the diagnosis in people with PBC who do not have symptoms.
PBC is considered an autoimmune disease in which the immune system malfunctions and mistakenly attacks a person’s healthy bile duct cells, causing the inflammation and damage. It is thought to be caused by a combination of genetic susceptibility and environmental triggers (multifactorial inheritance).
The first treatment recommended for people with PBC is ursodiol, also called ursodeoxycholic acid (UDCA), which has been shown to slow disease progression and reduce the need for a liver transplant. Obeticholic acid (OCA) is available as a second-line treatment either in combination with UDCA (in those with an inadequate response to UDCA), or by itself (in those who are not able to tolerate UDCA). The symptoms of PBC typically do not improve with UDCA or OCA, so individual symptoms are treated separately. A liver transplant may be needed when PBC leads to liver failure.
The rate of progression varies greatly among people with PBC, and the disease may progress over many decades before resulting in end-stage liver disease and its complications.
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