Primary biliary cholangitis (PBC) is a rare autoimmune disease affecting the bile ducts in the liver. These vessels carry bile from the liver to the small intestine, where it aids in digestion. When bile ducts become damaged, bile can build up in the liver, leading to inflammation and scarring.

Bile ducts are tubes that transport bile. Bile can also break down fats and help the liver remove toxins.

PBC causes damage to the bile ducts. This allows bile to build up in the liver and contributes to inflammation and scarring. PBC typically affects females, and researchers have estimated that about 65 out of every 100,000 females in the United States have PBC.

PBC is a progressive disease, meaning it typically worsens over time. However, someone may not develop symptoms for many years.

There is no cure for PBC, but doctors can prescribe treatments to help people manage symptoms and slow the progression of the disease. People with PBC can develop cirrhosis, a condition in which scar tissue begins to replace healthy tissue in the liver.

Keep reading to learn more about PBC, including its causes, symptoms, and treatment options.

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PBC has four main stages:

  • Stage 1 (portal stage): There is some inflammation and very minor bile duct damage. Doctors may also detect granulomas — nodules filled with inflammatory cells.
  • Stage 2 (periportal stage): Some liver structures become enlarged, and there is fibrosis and inflammation. The small bile ducts may show signs of rapidly dividing.
  • Stage 3 (septal stage): Doctors can see the first evidence of scarring.
  • Stage 4 (biliary cirrhosis): The individual now has cirrhosis, which is severe scarring and liver damage.

PBC is an autoimmune disease. In this type of disease, the immune system, which usually protects against infection, attacks healthy tissues instead. In this case, it harms the bile ducts in the liver. Over time, bile accumulates in the liver, causing inflammation, scarring, and cirrhosis.

Medical experts do not know the exact cause of PBC.

There are numerous familial cases of PBC, so certain genetic factors may play a role. Environmental or other factors may trigger PBC in people who have a genetic predisposition to the condition.

Further research into immunological, autoimmune, environmental, and other factors would be beneficial to undercover the role each has in causing PBC.

Certain risk factors increase an individual’s chance of developing PBC, including:

  • being female
  • being middle-aged, as the average age at diagnosis is 60
  • being white
  • having a parent or sibling with the condition
  • having a genetic predisposition to the condition

Females are nine times more likely than males to develop PBC. Therefore, females make up about 90% of all PBC cases.

People who have siblings with PBC, or at least one member of their family with PBC, are more likely to develop the condition.

People may experience gradually worsening symptoms as the PBC progresses from early to late stage.

Early stage

Many people have no symptoms in the early stages of PBC, which may continue for years. As a result, doctors diagnose about 6 in 10 people before they experience symptoms.

However, if someone experiences symptoms, they may include:

Late stage

As the disease progresses, symptoms may include:

  • darkening of skin tone
  • fatty, yellow bumps on the skin, called xanthomas
  • symptoms of cirrhosis, such as swelling, jaundice, and weight loss

Advanced PBC may cause certain complications, including:

  • Osteoporosis: a condition leading to bone loss and weak, brittle bones
  • Malabsorption: a condition in which the body does not absorb the vitamins and nutrients it needs from food
  • Hyperlipidemia: high levels of fats in the blood
  • Portal hypertension: increased blood pressure in the blood vessels of the abdomen
  • Liver cancer: malignancy of the liver that may spread to other areas
  • Renal tubular acidosis: damage to the tubules of the kidneys
  • Autoimmune thrombocytopenia: a decrease in platelets, leading to easy bruising, bleeding of the gums, and internal bleeding
  • Hypoglycemia: low blood sugar

Doctors may monitor people with PBC by using blood tests and other screening tests to check vitamin levels and overall liver function.

Doctors diagnose PBC with a blood test. However, because PBC causes no symptoms in the early stages, they may diagnose it during a routine test.

Doctors use blood tests to check:

  • Liver enzymes: A high level of alkaline phosphatase (ALP) can indicate PBC.
  • Anti-mitochondrial antibody (AMA): This indicator of autoimmunity is present in 95% of people with PBC.
  • Cholesterol levels: People with PBC may have higher cholesterol levels than people without the condition.

Doctors can diagnose PBC when test results show high levels of ALP and AMA in blood, even if the person does not have any symptoms.

To diagnose PBC, doctors might also:

  • use liver biopsy to confirm their diagnosis
  • use imaging tests, such as liver ultrasounds, to rule out other causes of the damage
  • perform a physical examination, looking at the abdomen and checking for signs of jaundice
  • take a family history

Learn more about liver scans here.

There is no cure for PBC, so treatment aims to prevent disease progression and ease symptoms.

Treatment of disease

Doctors typically use ursodeoxycholic acid (UDCA) to treat PBC. It is a bile acid that helps shift bile from the liver to the small intestine. People benefit the most if they begin treatment when PBC is at an early stage. Treatment can help slow the damage and the development of cirrhosis.

Doctors may recommend obeticholic acid (OBCA) if someone does not respond to UDCA. However, this option does not improve the survival rate or symptoms.

The gold standard of treatment for PBC is a liver transplant. Therefore, when someone develops cirrhosis complications, doctors should evaluate their suitability for a liver transplant.

Treatment of complications

A doctor may prescribe other treatments for the following complications of PBC:

  • Itching: antihistamine medications, such as diphenhydramine (Benadryl) or cholestyramine (Questran)
  • High blood fats: statins, a category of medications that do not harm liver function
  • Nutritional deficiencies: supplements of the fat-soluble vitamins A, D, E, and K
  • Osteoporosis: daily oral vitamin D and calcium supplementation, daily exercise, and, in postmenopausal people, possible estrogen therapy

Because PBC seems to have a genetic link, people who are predisposed to it may not be able to prevent it. However, people may be able to improve their overall liver health by maintaining a moderate weight, eating a balanced diet, exercising, and consuming alcohol responsibly.

Doctors have no cure for PBC. However, the condition advances slowly, allowing doctors to provide treatment.

Many individuals live active and productive lives for up to 15 years following their diagnosis. Some people also remain symptom-free for many years. After treatment of the condition, if liver test results return to normal, the person can expect to have a typical life expectancy.

The bilirubin level in a person’s blood can be a reliable indicator of their outlook. Bilirubin is a waste product from the breakdown of red blood cells. The liver helps excrete it from the body.

If an individual has a bilirubin level consistently above 2, their life expectancy is approximately 4 years. However, if their level is above 10, their life expectancy is around 1.4 years.

PBC is a rare autoimmune condition that affects the liver. It damages the bile ducts, causing bile to build up in the liver. Eventually, this leads to damage and scarring.

In the early stages, a person may have no symptoms. However, as the condition progresses and the liver becomes more damaged, they may experience fatigue and symptoms of liver cirrhosis.

Doctors do not know the cause, but genetic and environmental factors may be involved.

There is no cure, but treatments can help reduce symptoms and slow disease progression. Many people with this condition eventually require a liver transplant.