Primary Biliary Cholangitis (PBC)

Overview

What Is It?
PBC is progressive. A progressive disease is one that gets worse over time. PBC is an autoimmune disease. It causes your body to attack itself. When the body attacks its own cells, it causes inflammation and damage. With PBC, your body attacks your own bile ducts in the liver, causing inflammation, scarring and cirrhosis over time.

Primary biliary cholangitis (PBC) is a progressive autoimmune disease that damages or destroys the bile ducts in the liver—called the intrahepatic bile ducts. Bile produced in your liver travels via these ducts to your small intestine where it aids in the digestion of fat and fat-soluble vitamins (A, D, E and K).

When the ducts are destroyed, bile builds up in the liver, contributing to inflammation and scarring (fibrosis). Eventually this can lead to cirrhosis and its associated complications as scar tissue replaces healthy liver tissue and liver function becomes increasingly impaired.

PBC primarily affects women, impacting approximately one in 1,000 women over the age of 40.

PBC is a disease that disproportionately affects women, with 10 women for every man having the disease. Studies indicate that the number of people with PBC at a given time (referred to as the prevalence of disease) ranges from 19 to 251 per million populations in various countries. In the United States, the prevalence is estimated to be up to 35 out of every 100,000. An increase in prevalence of PBC has also been reported from different parts of the world.

While PBC is rare, it is the most common cholestatic (bile build-up) liver disease. Since 1988, it has been the second leading overall reason for liver transplant among women in the United States.

The average age of diagnosis is approximately 40 years, and the typical signs and symptoms begin to occur between the ages of 30 and 65 years.

A majority of PBC patients do not show symptoms at the time of diagnosis, but most develop symptoms over time. Fatigue and itching of the skin are the most common symptoms of PBC.

Diagnosis

Primary biliary cholangitis (PBC) may progress slowly, and many people do not have symptoms, particularly in the early stages of the disease. The most common initial symptoms are fatigue and itching of the skin (pruritis). Other symptoms may include:

Abdominal pain
Darkening of the skin
Small yellow or white bumps under the skin or around the eyes
Dry mouth and eyes
Bone, muscle and joint pain

As the disease progresses, symptoms of cirrhosis can develop including:

Yellowing of the skin (jaundice)
Swelling of the legs and feet (edema)
Enlarged abdomen from fluid accumulation (ascites)
Internal bleeding in the upper stomach and esophagus from enlarged veins
Thinning bones (osteoporosis), leading to fractures in the late stages of the disease
Increased risk for liver cancer (hepatocellular carcinoma)

Because many people with PBC have no symptoms, the disease is often discovered from abnormal results on routine liver blood tests (elevated alkaline phosphatase). Once PBC is suspected, another blood test to check for antimitochondrial antibody (AMA) is done. AMA is a highly PBC-specific autoantibody found in 90 percent to 95 percent of patients with PBC and less than 1 percent of normal people.

Imaging of the abdomen by ultrasound and a liver biopsy, where a sample of liver tissue is removed with a small needle, can help confirm the diagnosis and assess the degree of liver damage.

Treatment

There is no cure for primary biliary cholangitis (PBC), however, there are treatment options that can help people manage their disease.

Ursodiol (brand names Actigall, URSO 250, URSO Forte) is a naturally occurring bile acid (ursodeoxycholic acid or UDCA) that helps move bile out of the liver and into the small intestine. Ursodiol is effective in about half of people with PBC.

In 2016, the U.S. Food and Drug Administration approved obeticholic acid (Ocaliva), an FXR agonist that can lower levels of alkaline phosphatase (ALP), a liver enzyme and biomarker used to track progression of PBC. Obeticholic acid may be used in combination with ursodiol for people in whom ursodiol isn't completely effective or as a single therapy in people who cannot tolerate ursodiol. While obeticholic acid is approved, there are still ongoing trials to assess long-term impact on disease progression and symptom management.

If used early enough, these treatments can improve liver function and delay the need for a liver transplant. People with PBC must take medication every day for life. For people with PBC who also have symptoms of autoimmune hepatitis, medications to suppress the immune system may also be prescribed, including azathioprine and prednisone.

Liver transplantation is considered when medical treatment no longer sufficiently controls the disease and a person develops end-stage liver disease as a result.

When people respond well to treatments:

Their disease progression slows.
Liver transplant may not be necessary.
They could live longer than if they had not treated their PBC.

Although these treatments can help people in any stage of PBC, it is important to start treatment as soon as possible because medicines work best in people whose PBC is still in the early stages.

People who don't respond well to treatments are at the highest risk for disease progression.

How do you know if you are responding to treatment?

Have your health care provider check your ALP and bilirubin levels every three to six months with a blood test.
Record and keep track of your ALP and bilirubin levels.

Treating the Symptoms

Although there is no cure for PBC, your health care provider may recommend treatments for your symptoms, including:

Over-the-counter antihistamines like diphenhydramine (Benadryl) may be helpful in treating intense itching, one of the most common symptoms of PBC. A drug called cholestyramine (Questran) helps bind bile and decreases the itching associated with elevated bilirubin levels. Other agents such as rifampicin, naltrexone and sertraline may be prescribed.
Eye drops or artificial tears can relieve dry eyes.
Sucking on hard candy or chewing gum increases saliva, which helps relieve dry mouth. Saliva substitutes and some medications also can be used.

Preventing Complications

Your health care provider may conduct these tests to help you avoid complications:

Blood tests may be used to monitor for deficiencies in fat-soluble vitamins.
As PBC progresses, some people need to replace the fat-soluble vitamins lost in fatty stools, so you may be put on vitamin A, D, E and K replacement therapy.
Because people with PBC are at a higher risk for osteoporosis, calcium and vitamin D are usually prescribed. Screening for osteoporosis with bone-density testing may be recommended.
As liver function decreases over time, complications associated with cirrhosis will need to be addressed and treated. Once cirrhosis has developed, screening for internal bleeding and liver cancer is often recommended.

Lifestyle Changes

Maintaining a healthy lifestyle can help people with PBC feel better, as well as relieve or prevent some symptoms associated with the disease. Once you are diagnosed, your health care provider may suggest the following:

Start a reduced-sodium and/or low-fat diet.
Avoid or lower alcohol consumption.
Lower caffeine intake.
Avoid stress when possible.
Start exercising, particularly walking.
Stop smoking.
Maintain good skin care.
Get regular dental examinations.

Keep in mind that PBC usually advances slowly over a period of years. Many people lead normal lives for years without symptoms, depending on how early the diagnosis is made. And while there is no cure, people are having good results slowing disease progression and living longer without complications by adhering to their medication regimen and maintaining a healthy lifestyle.

Prevention

The exact cause of primary biliary cholangitis (PBC) is unknown. However, it is known that PBC is not caused by alcohol or illegal-drug use. It is an autoimmune disease that occurs in genetically susceptible individuals. The body's immune system mistakenly attacks and destroys its own cells—in this case, the cells of the intrahepatic bile ducts. Some people diagnosed with PBC may also have one or more other autoimmune diseases.

Women are nine times more likely than men to develop PBC, meaning that women make up about 90 percent of PBC cases.

The disease most often develops during middle age and is usually diagnosed in people between the ages of 35 and 60 years. PBC is more common among siblings and in families where one member has been affected, indicating a gene may be involved.

Facts to Know

Primary biliary cholangitis (PBC) is not caused by alcohol or drug use.
PBC is an autoimmune disease that cannot be prevented or cured, but there is treatment available to slow disease progression.
Many people with PBC live normal, healthy lives with proper treatment.
An estimated 90 percent of patients with PBC are women.
Since 1988, PBC has been the second overall most common reason for liver transplant among U.S. women.

Questions to Ask

Having a list of questions to ask your health care provider during an appointment can help you remember your important concerns related to primary biliary cholangitis (PBC). In addition to getting your liver enzymes (alkaline phosphatase and bilirubin) checked every three to six months and doing what you can to keep your enzymes as close to normal as possible, bring these questions (and any others you may add) and a pen to write down the answers.

1. What are the results of my blood tests or other medical tests? Please explain the results.

2. What are the results of my biopsy? Please explain the results.

3. Do you suggest any change in my medications, treatments or testing?

4. Would you recommend any lifestyle changes for me, such as changes in diet, exercise or job-related activities?

5. Would you be willing to refer me for:

a second opinion;
further medical testing;
dietary guidance;
physical therapy; or
any other outside assistance?

6. Will you send copies of my medical records to my other health care providers?

7. Will you give me copies of my lab results and medical tests?

8. How many patients with PBC do you treat?

9. What are your thoughts on alternative medical therapies?

10. What symptoms or associated diseases might I expect from my liver disease as it progresses?

11. Will you support me when the time is appropriate to file for medical disability?

12. Is your office staff prepared to assist me if I need to sign up to get a liver transplant?

13. Are you willing to refer me for participation in research studies for PBC or associated diseases?

Questions the caregiver or support person may want to ask the doctor:

1. What can I do to help?

2. What type of daily assistance will I need to provide?

3. How can I help with treatments, emotions, physical changes or pain, financial support or other issues?

4. What changes might I expect to see physically or mentally?

5. Would you recommend counseling for the person I'm caring for or for the family or me?

6. Is it necessary to apply for medical disability at this time?

7. What other assistance may I offer?

Key Q&A

What is primary biliary cholangitis (PBC)?

PBC is a long-term autoimmune disease that affects the liver. In simple terms, the body thinks the liver is a foreign object and tries to use immunological defense mechanisms against the bile ducts, which leads to toxic bile build-up. It is not related to alcohol or drugs and, at the moment, is incurable. However, there is treatment to slow the progress of the condition.

Why do I have primary biliary cholangitis?

It is important to know that you don't catch PBC. For PBC to develop, two things have to happen. The first thing is that you have a genetic predisposition. Approximately 25 areas within your DNA have been linked to PBC: some are linked to autoimmune disorders generally, and some are PBC specific. Assuming that you have this genetic predisposition, you then have to encounter a trigger. Triggers vary from person to person and could be viral, bacterial, chemical or even a traumatic experience.

Can I pass primary biliary cholangitis on?

PBC cannot be passed on like a cold or the flu. It is possible that you could pass on the genetic predisposition to your children, but not PBC itself. If you look at your family tree, you will often encounter other autoimmune conditions such as rheumatoid arthritis, lupus, type 1 diabetes, hypothyroidism, celiac disease, scleroderma and Sjögren's, to name a few. There is less than a 5 percent chance that your children would develop PBC.

What is my life expectancy with PBC?

You are more likely to die "with" PBC than "from" PBC. PBC is generally a long-term condition, although there are occasional cases where the PBC progresses more quickly. However, this still tends to be in years rather than weeks or months.

What can I do to manage primary biliary cholangitis?

Use resources to track your symptoms. Collecting information about your symptom experience can be helpful to your doctors as they help you manage your PBC. Monitor your itchiness, fatigue and other PBC symptoms. Manage the symptoms of your disease so you can stay on track with the medicine that helps your liver fight PBC.

Support Groups and Organizations

livingwithPBC.com

You can take action. You are not alone. Connect with PBC communities to help you manage your disease. Learn about getting support from the PBC community.

There are groups and organizations dedicated to supporting people with PBC all over the world. Follow the links below to find out more about each group.

PBCers Organization
The mission of this U.S.-based organization is to unite people diagnosed with primary biliary cholangitis (formerly known as primary biliary cirrhosis), which is a progressive chronic liver disease. The organization helps PBC patients and their caregivers, friends and families cope with PBC and improve the quality of their lives through education and support.
Address: PBCers Organization, 1430 Garden Road, Pearland, TX 77581
Email: PBCers@PBCers.org
Website: PBCers.org

PBC Society
A Canadian organization with regional groups that provide support and encouragement, education and information, and fundraising for research on PBC
Address: Canadian PBC Society, 4936 Yonge Street, Suite 221, Toronto, Ontario M2N6S3
Email: info@pbc-society.ca
Website: PBC-Society.ca

PBC Foundation
A UK-based patient organization with nearly 10,000 members that provides support to people around the world who are living with PBC, as well as their families and friends
Address: The PBC Foundation, 2 York Place, Edinburgh EH1 3EP
Email: info@pbcfoundation.org.uk
Website: PBCFoundation.org.uk

Visit the following websites for more information about PBC:

American Liver Foundation
A national organization for patients, families, and professionals that is dedicated to the prevention, treatment, and cure of liver diseases such as PBC
Address: American Liver Foundation, 39 Broadway, Suite 2700, New York, NY 10006
Website: LiverFoundation.org

Mayo Clinic
A nonprofit medical practice and research group that provides information about a variety of medical conditions, including PBC
Website: MayoClinic.org

Medline Plus
A website that provides health information for people with PBC and other diseases as a service of the US National Library of Medicine
Address: US National Library of Medicine, 8600 Rockville Pike, Bethesda, MD 20894
Website: MedlinePlus.gov

Medicine Net
A website written by doctors with some information aimed at people with PBC and their caregivers; includes comments from people with PBC
Website: MedicineNet.com

National Organization for Rare Disorders (NORD)
An organization that provides services, such as advocacy and education, to help improve the lives of people with rare diseases
Address: National Organization for Rare Disorders, 55 Kenosia Avenue, Danbury, CT 06610
Website: RareDiseases.org

National Digestive Diseases Information Clearinghouse
A website that provides information on digestive diseases, including studies recruiting people with liver disease, provided by the National Institute of Diabetes and Digestive and Kidney Diseases
Address: National Digestive Diseases Information Clearinghouse, 2 Information Way, Bethesda, MD 20892
Website: NIH.gov

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