Primary biliary cholangitis

Disease Overview

Primary biliary cholangitis (PBC) is a chronic, progressive liver disease in which the bile ducts become inflamed and damaged.[15236][15237][15238] This leads to the buildup of bile and causes liver problems such as scarring, cirrhosis (scarring and poor liver function), and eventual liver failure.[15236] PBC is more common in women.[15236][15238][15239] Many people do not have symptoms when they are first diagnosed and may not develop symptoms for several years.[15236][15237] Early symptoms may include fatigue (the most common symptom), itchy skin (pruritus), and abdominal pain.[15236][15237] 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.[15236][15238] The symptoms of PBC can significantly impair quality of life.[15237]

The diagnosis of PBC may involve blood tests, imaging studies (such as X-ray or ultrasound), and sometimes, a liver biopsy.[15236][15237] Blood tests may include tests for anti-mitochondrial antibodies (which may confirm the diagnosis), liver function tests, and cholesterol tests.[15236][15237] Abnormal blood test results commonly lead to the diagnosis in people with PBC who do not have symptoms.[15236]

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.[15236] It is thought to be caused by a combination of genetic susceptibility and environmental triggers (multifactorial inheritance).[15236][15237]

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.[15236][15237] 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).[15237][15238] The symptoms of PBC typically do not improve with UDCA or OCA, so individual symptoms are treated separately.[15237] A liver transplant may be needed when PBC leads to liver failure.[15236]

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.[15237][15238]

Synonyms

• Primary Biliary Cirrhosis
• PBC
• Familial primary biliary cirrhosis