If you or a loved one has recently been diagnosed with primary biliary cholangitis (PBC) — formerly known as primary biliary cirrhosis — you likely have lots of questions. What factors played a role in your diagnosis? What causes PBC? What are your treatment options?

This article provides an overview of six important facts to know about PBC.

1. PBC Is a Chronic Liver Disease That Damages the Liver’s Bile Ducts

The liver works hard to filter out toxins from the blood and make bile — an important substance that helps you digest and absorb fats. In PBC, the immune system destroys the small bile ducts in the liver. These tiny canals are found throughout the liver and connect the organ to your small intestine and gallbladder.

Damaged bile ducts can’t carry bile to the digestive system, causing a buildup of bile in the liver. Over time, the damaged liver tissue is replaced with fibrosis (scar tissue). This can lead to cirrhosis, which occurs when the buildup of scarring becomes permanent, replacing healthy liver tissue. This prevents the liver from functioning properly. Some people with PBC eventually develop liver failure.

Many health experts believe PBC is an autoimmune disease, meaning the immune system attacks healthy tissues by mistake.

Many health experts believe PBC is an autoimmune disease, meaning the immune system attacks healthy tissues by mistake. People with PBC have more white blood cells called T cells that collect in their liver and cause inflammation. Around 95 percent of people with PBC also have antimitochondrial antibodies (AMAs), which are biomarkers (measurable substances in your body) for autoimmune disease.

2. PBC Has Both Genetic and Environmental Risk Factors

Health experts believe two main risk factors contribute to PBC: genetic factors and environmental factors. Age also plays a role. For example, you’re at the highest risk of developing PBC when you’re middle-aged. Some health experts say this is between the ages of 30 and 60, and others say it’s between 45 and 65.

Genetic risk factors are inherited through families and can’t be changed. Examples include:

• Your biological sex — In the U.S., females are 10 times more likely to develop PBC than males, according to Cleveland Clinic.
• Geography — PBC is more common in parts of Europe, including Scotland, Scandinavia, and Northeast England. This may reflect a combination of genetic and environmental factors, as well as differences in how and when the disease is diagnosed.
• Family history — Having a family member with PBC also raises your risk.

Environmental risk factors are parts of your environment or routine that you might be able to change to support better health. Examples include:

• Smoking
• Being exposed to toxic chemicals
• Having a history of infections, specifically urinary tract infections (UTIs)

3. You May Not Experience PBC Symptoms Until Your Condition Has Progressed

PBC develops slowly over time. Cleveland Clinic states that it can take 15 to 20 years for the condition to progress to the terminal (final) stage. Many people don’t experience PBC symptoms in the early stages of PBC. When symptoms do show up, the most common are pruritus (itchy skin), which affects around 55 percent of people, and fatigue, which affects around 65 percent.

Many people don’t experience symptoms during the early stages of PBC, but the most common symptoms include pruritus (itchy skin) and fatigue.

As PBC progresses, a person may develop other symptoms. Without enough bile in the digestive system, the body can’t properly break down fats and absorb them. This is known as fat malabsorption and can lead to:

• Unintentional weight loss
• High cholesterol levels
• Vitamin deficiencies in fat-soluble vitamins (vitamins A, D, E, and K)
• Problems with the bones and joints, like osteoporosis (bone thinning and weakness)
• Greasy stools or diarrhea
• Xanthomas (fatty deposits underneath the skin)

Some PBC symptoms are due to a complication known as portal hypertension. This refers to high blood pressure in the liver’s portal vein. Common symptoms of PBC associated with portal hypertension include:

• Stomach pain
• Splenomegaly (enlarged spleen)
• Ascites (fluid buildup in the abdomen)
• Edema (swelling in the legs, ankles, and feet due to fluid buildup)
• Varices (large, swollen veins) in the abdomen or esophagus (the tube that connects your mouth and stomach)

People with PBC may also experience skin changes. One example is jaundice, which is the yellowing of the skin and eyes. Jaundice is caused by the buildup of bilirubin, a yellow pigment in bile. PBC can also cause skin hyperpigmentation — areas of darker skin unrelated to sun exposure.

PBC is also associated with hypothyroidism (underactive thyroid). Studies show that in the U.S., 4.6 percent of people with PBC develop hypothyroidism compared to 1.3 percent of those without PBC. Common symptoms of hypothyroidism include:

• Unintentional weight gain
• Muscle and joint pain
• Numb hands
• Fatigue

Sjögren’s disease — another autoimmune condition — commonly occurs alongside PBC. Research shows that around 35 percent of people with PBC are also diagnosed with Sjögren’s, and many more may experience its hallmark symptoms, such as dry eyes and dry mouth.

4. Doctors Diagnose PBC With Blood and Imaging Tests

Since the early symptoms of PBC can also be caused by other conditions, your doctor may have difficulty making a diagnosis. They’ll use the results of a physical examination, blood tests, and imaging tests to rule out other conditions and diagnose PBC.

During the physical examination, your doctor will ask about your current symptoms, along with questions about:

• Your personal history of other autoimmune disorders
• Your family history and whether anyone else in your family has PBC or another liver disease
• Previous exposure to toxic chemicals and your smoking status
• Any previous infections

Blood tests provide important information on your liver function and cholesterol levels. Your doctor may measure your:

• Alkaline phosphatase (ALP) levels — High ALP levels found in routine blood work are the most common sign of PBC. High levels indicate bile duct damage.
• Cholesterol levels — High cholesterol is also common among people with PBC.
• AMA levels — As noted, most people with PBC have antimitochondrial antibodies.

To visualize your liver and bile ducts, your doctor may use imaging tests like an abdominal ultrasound or magnetic resonance cholangiopancreatography (MRCP). These tests are an important part of ruling out other conditions that look similar to PBC, such as gallstones or liver cancer.

If blood tests don’t clearly show whether you have PBC, your doctor may order a liver biopsy to get more information. They’ll take a small piece of liver tissue to look at under a microscope for fibrosis and cirrhosis.

5. Treatments for PBC Focus on Preventing Liver Damage and Delaying Disease Progression

There’s currently no cure for PBC, so doctors focus on delaying disease progression for as long as possible. Starting treatment for PBC early gives medications more time to help your liver work better.

Doctors typically first prescribe bile acids to treat PBC. Bile acids are found naturally in your body, where they help break down and absorb fats. Some newer treatments work by targeting proliferator-activated receptor (PPAR) pathways, which play a role in inflammation and bile acid regulation. These medications have been shown to reduce levels of ALP.

Starting treatment for PBC early gives medications more time to help your liver work better.

Other treatments include fibrates, which help lower cholesterol production in the liver. They may help with PBC and associated symptoms, like itchy skin.

If your PBC treatments stop working, your doctor may consider performing a liver transplant. During this procedure, the surgeon will replace your diseased liver with healthy liver tissue from a donor. People with PBC who receive a liver transplant generally have a good prognosis (outlook).

Your doctor may also prescribe treatments to help manage your PBC symptoms. Treatments for skin itching can include antihistamines, antidepressants, and antibiotics. If you have dry eyes or dry mouth related to Sjögren’s disease, artificial tears or saliva substitutes may help. You can get these products over the counter in stores or by prescription from your doctor.

To help prevent bone problems and osteoporosis, your doctor may recommend that you take vitamin D supplements. Light exercise can also help make weak or brittle bones stronger.

6. Untreated PBC Can Lead to Complications

Complications are other conditions or problems that occur as a result of an illness. Many of the symptoms of PBC are caused by complications. Some common complications of PBC include:

• Liver cirrhosis
• Splenomegaly
• Varices
• Portal hypertension
• Bile duct stones and gallstones
• Vitamin deficiencies
• Osteoporosis and osteopenia (weak bones)
• Hyperlipidemia (high levels of lipids, such as cholesterol and triglycerides)
• Hepatocellular carcinoma (liver cancer) from long-term liver inflammation
• Hepatic encephalopathy from toxin buildup in the bloodstream

Other related autoimmune disorders that occur alongside PBC (known as comorbid conditions) include:

• Sjögren’s disease
• Rheumatoid arthritis
• Limited cutaneous scleroderma
• Autoimmune thyroid disease

Find Your Team

On myPBCteam, the social network for people living with primary biliary cholangitis and their loved ones, members come together to ask questions, give advice, and share their stories with others who understand life with PBC.

What questions do you have about PBC? Share your experience in the comments below, or start a conversation by posting on your Activities page.