Primary biliary cirrhosis, sometimes called PBC, is a disease in which the bile ducts in your liver are slowly destroyed. Bile, a fluid produced in your liver, plays a role in digesting food and helps rid your body of worn-out red blood cells, cholesterol and toxins.
When bile ducts are damaged, as in primary biliary cirrhosis, harmful substances can build up in your liver and sometimes lead to irreversible scarring of liver tissue (cirrhosis).
Primary biliary cirrhosis is considered an autoimmune disease, in which the body turns against its own cells. Researchers think it is triggered by a combination of genetic and environmental factors. Primary biliary cirrhosis usually develops slowly and medication can slow its progression, especially if treatment begins early.
Although some people with primary biliary cirrhosis remain symptom-free for years after they're diagnosed, others experience a number of signs and symptoms.
Common early symptoms include:
Dry eyes and mouth
Later signs and symptoms may include:
Pain in the upper right portion of the abdomen
Bone, muscle or joint (musculoskeletal) pain
Yellowing of the skin and eyes (jaundice)
Darkening of the skin that's not related to sun exposure (hyperpigmentation)
Swollen feet and ankles (edema)
Buildup of fluid in the abdomen due to liver failure (ascites)
Fatty deposits on the skin around your eyes, your eyelids, or in the creases in your palms, soles, elbows or knees (xanthomas)
Weak and brittle bones (osteoporosis), which can lead to fractures
Diarrhea that can be greasy (steatorrhea)
Underactive thyroid (hypothyroidism)
It's not clear what causes primary biliary cirrhosis. Many experts consider primary biliary cirrhosis an autoimmune disease in which the body turns against its own cells.
How primary biliary cirrhosis develops
The inflammation of primary biliary cirrhosis begins when T lymphocytes (T cells) start accumulating in your liver. T cells are white blood cells that are part of your immune system response.
Normally, T cells recognize and help defend against harmful invaders, such as bacteria. But in primary biliary cirrhosis, the T cells invade and destroy the cells lining the small bile ducts in your liver.
Inflammation in the smallest ducts spreads, in time, and destroys nearby liver cells. As these cells are destroyed, they're replaced by scar tissue (fibrosis) that can contribute to cirrhosis. Cirrhosis is scarring of liver tissue that makes it difficult for your liver to carry out essential functions.
The following factors may increase your risk of primary biliary cirrhosis:
Your sex. The great majority of people with primary biliary cirrhosis are women.
Your age. Primary biliary cirrhosis is most likely to occur in people 30 to 60 years old.
Genetic factors. Having a family member with the disease makes it more likely that you will develop it.
Researchers think that genetic factors, when combined with environmental factors, trigger primary biliary cirrhosis. These environmental factors may include:
Infection. Researchers suspect primary biliary cirrhosis could be triggered by a bacterial, fungal or parasitic infection.
Smoking. Smoking is associated with increased risk of primary biliary cirrhosis.
Environmental toxins. Some research suggests that toxic chemicals may play a role in developing primary biliary cirrhosis.
As liver damage progresses, people with primary biliary cirrhosis may develop a number of serious problems, including:
Cirrhosis. Cirrhosis is liver scarring that makes it difficult for the liver to function normally. Cirrhosis can occur in the later stages of primary biliary cirrhosis. Ongoing cirrhosis can lead to liver failure, which occurs when your liver is no longer able to function properly.
Increased pressure in the portal vein (portal hypertension). Blood from your intestine, spleen and pancreas enters your liver through a large blood vessel called the portal vein. When scar tissue from cirrhosis blocks normal circulation through your liver, blood backs up, much like water behind a dam, leading to increased pressure within the vein. And because blood doesn't flow normally through your liver, drugs and other toxins aren't filtered properly from your bloodstream.
Enlarged spleen (splenomegaly). Your spleen can become enlarged with white blood cells and platelets due to portal hypertension.
Gallstones and bile duct stones. If bile cannot flow through the bile ducts, it may harden into stones, causing pain and infection.
Enlarged veins (varices). When circulation through the portal vein is slowed or blocked, blood may back up into other veins — mainly those in your stomach and esophagus. The blood vessels are thin walled, and increased pressure in your veins can cause bleeding in your upper stomach or esophagus. This bleeding is a life-threatening emergency that requires immediate medical care.
Liver cancer. The destruction of healthy liver tissue that occurs in cirrhosis increases your risk of liver cancer.
Weak bones (osteoporosis). People with primary biliary cirrhosis have an increased risk of weak, brittle bones that may break more easily.
Vitamin deficiencies. A lack of bile affects your digestive system's ability to absorb fats and the fat-soluble vitamins, A, D, E and K. This sometimes leads to deficiencies of these vitamins in advanced cases of primary biliary cirrhosis.
Decreased mental function (hepatic encephalopathy). Some people with primary biliary cirrhosis with liver failure have problems with memory, concentration and personality change.
An increased risk of other disease. In addition to bile duct and liver damage, people with primary biliary cirrhosis are likely to have other metabolic or immune system disorders, including thyroid problems, limited scleroderma (CREST syndrome) and rheumatoid arthritis.
If you have signs or symptoms that worry you, make an appointment with your family doctor or a general practitioner. If you're diagnosed with primary biliary cirrhosis, you may be referred to a doctor who specializes in disorders of the digestive system (gastroenterologist) or a doctor who specializes in liver diseases (hepatologist).
Because there's often a lot to cover during your appointment, it's a good idea to arrive well-prepared. Here's some information to help you get ready, and what to expect from your doctor.
What you can do
Be aware of any pre-appointment restrictions. At the time you make the appointment, be sure to ask if there's anything you need to do in advance, such as restrict your diet.
Write down any symptoms you're experiencing, including any that may seem unrelated to the reason for which you scheduled the appointment.
Write down key personal information, including any major stresses or recent life changes.
Make a list of all medications, vitamins and supplements that you're taking.
Ask a family member or friend to come with you. Sometimes it can be difficult to remember all of the information provided to you during an appointment. Someone who accompanies you may remember something that you missed or forgot.
Write down questions to ask your doctor.
Preparing a list of questions can help you make the most of your time with your doctor. For primary biliary cirrhosis, some basic questions to ask your doctor include:
What's the most likely cause of my symptoms?
Are there any other possible causes for my symptoms?
What kinds of tests do I need to confirm the diagnosis? Do these tests require any special preparation?
How severe is the damage to my liver?
What treatments are available, and which do you recommend for me?
What types of side effects can I expect from treatment?
Are there any alternatives to the primary approach that you're suggesting?
What's my prognosis?
I have other health conditions. How can I best manage them together?
Are there any dietary or activity restrictions that I need to follow?
Is there a generic alternative to the medicine you're prescribing me?
Are there brochures or other printed material that I can take with me? What websites do you recommend?
In addition to the questions that you've prepared to ask your doctor, don't hesitate to ask other questions that come to mind during your appointment.
What to expect from your doctor
Your doctor is likely to ask you a number of questions. Being ready to answer them may reserve time to go over points you want to spend more time on. Your doctor may ask:
What types of symptoms have you been experiencing?
When did you first begin experiencing symptoms?
Have your symptoms been continuous or occasional?
How severe are your symptoms?
Does anything seem to improve your symptoms?
What, if anything, appears to worsen your symptoms?
Has anyone in your family ever been diagnosed with primary biliary cirrhosis?
Do you have any chronic health conditions?
Do you have any history of infectious diseases?
Do you have a history of hepatitis or other liver problems?
Your doctor will first ask you about your health history and your family's health history, and perform a physical exam.
The following tests and procedures may be used to diagnose primary biliary cirrhosis.
Blood tests to check liver function. Liver function tests check the levels of enzymes that may indicate liver disease in general and bile duct injury in particular.
Blood tests to check for signs of autoimmune disease. An analysis of your blood may reveal anti-mitochondrial antibodies (AMAs). These antibodies almost never occur in people who don't have the disease, even if they have other liver disorders. Therefore, a positive AMA test is considered a very reliable indicator of the disease. However, a small percentage of people with primary biliary cirrhosis don't have AMAs.
Ultrasound. Ultrasound uses high-frequency sound waves to produce images of structures inside your body.
Computerized tomography (CT scan). You may have a CT scan — a special X-ray technique that provides much more information than a standard X-ray does.
Magnetic resonance imaging (MRI). An MRI scanner uses a magnetic field and radio waves to create detailed images of organs and tissues. Unlike CT, there is no radiation exposure with MRI.
Magnetic resonance elastography (MRE). This newer test combines MRI imaging with sound waves to create a visual map (elastogram) of internal organs. The test is used to detect hardening of your liver that might indicate cirrhosis, similar to the way a doctor would examine (palpate) your body.
X-rays of your bile ducts. You may need a type of bile duct X-ray called endoscopic retrograde cholangiopancreatography (ERCP) in addition to or instead of an MRI. To make your bile ducts visible on an X-ray, your doctor uses a flexible tube passed down your throat to inject dye into the area of your small intestine where your bile ducts empty. This test is invasive and may result in complications. With advances in MRI, it is usually not needed for diagnosis.
If the diagnosis is still uncertain, doctors may perform a liver biopsy. A small sample of liver tissue is removed and examined in a laboratory, either to confirm the diagnosis or to determine the extent (stage) of the disease. Doctors withdraw the tissue through a small incision using a thin needle.
Because no cure exists for primary biliary cirrhosis, treatment focuses on slowing the progress of the disease, relieving symptoms and preventing complications.
Treating the disease
Treatments aimed at slowing the disease and prolonging life include:
Ursodeoxycholic acid (UDCA). Also known as ursodiol (Actigall, Urso), UDCA is a bile acid that helps move bile through your liver. UDCA doesn't cure primary biliary cirrhosis, but it may prolong life if started early in the disease and is commonly considered the first line of therapy.
Although UDCA doesn't work for everyone with primary biliary cirrhosis, people with early-stage disease respond better. UDCA is less likely to help people with advanced liver damage. Side effects may include weight gain, hair loss and diarrhea.
Liver transplant. When treatments no longer control primary biliary cirrhosis and the liver begins to fail, a liver transplant may help prolong life. A liver transplant is a procedure to remove your diseased liver and replace it with a healthy liver from a donor. Most donated livers come from people who have died. But in some cases, it may be possible to remove a portion of a liver from a living donor.
Primary biliary cirrhosis often recurs in the transplanted liver, but it may take several years to develop. People with primary biliary cirrhosis who have liver transplants generally have high survival rates — 80 to 85 percent after five years on average.
New medications. Researchers continue to explore other drugs for treating primary biliary cirrhosis. Immunosuppressant drugs, in particular methotrexate (Trexall, Rheumatrex) and colchicine (Colcrys), have been widely used, but their effectiveness remains unproved.
Numerous other drugs, including antiviral medications, continue to be studied as well. Studies suggest that addingfenofibrate(Tricor, Triglide, others) or bezafibrate (Bezalip, others) may be helpful for some people who don't respond to UDCA alone, but larger studies are needed.
Treating the symptoms
Your doctor may recommend treatments to control the signs and symptoms of primary biliary cirrhosis to make you more comfortable. Treatments may help control the most common symptoms.
Treatment for fatigue
Although primary biliary cirrhosis itself causes fatigue, your daily habits or and other medical conditions can contribute to your tiredness. By addressing these other factors, you may get reliev. One medication that has shown promise in studies is modafinil (Provigil). More research is needed to determine its role in primary biliary cirrhosis.
Treatment for itching
Antihistamines such as diphenhydramine (Benadryl, others) and loratadine (Alavert, Claritin, others) are commonly used to reduce itching from insect bites dry eyes and dry mouth. On the other hand, antihistamines can help with sleep if itching keeps you awake.
Cholestyramine (Questran, Prevalite) is a powder that must be mixed with food or liquids. Though cholestyramine works for most people, the taste is unpleasant.
Rifampin (Rifadin, Rimactane, others) is an antibacterial drug which is taken in pill form. Exactly how rifampin reduces itching is unknown, but it may block the brain's response to itch-inducing chemicals in your circulation.
Opioid antagonists such as naloxone (Bunavail, Evzio) and naltrexone (Vivitrol) may help itching related to liver disease. Like rifampin, these drugs seem to reduce the itching sensation by acting on your brain.
Treatment for dry eyes and mouth:
Artificial tears and saliva substitutes are available over-the-counter.
Pilocarpine (Isopto Carpine, Salagen) is a prescription medicine that may be used if over-the-counter medications don't help.
Cevimeline (Evoxac) is another prescription medicine for dry eyes and mouth.
Working together, you and your doctor can help prevent some of the complications that can occur with primary biliary cirrhosis:
Increased pressure in the portal vein (portal hypertension). Your doctor is likely to screen for portal hypertension and enlarged veins when you're first diagnosed and every few years thereafter. If you're diagnosed with portal hypertension or bleeding, treatment may involve medications, such as a beta blocker or nitrate, or surgery.
Weak bones (osteoporosis). Treatment for bone loss associated with primary biliary cirrhosis often involves calcium and vitamin D supplements. Your doctor may also recommend that you exercise most days of the week to help increase your bone density.
Vitamin deficiencies. Your doctor may recommend supplements of vitamins A, D, E and K to counter vitamin deficiencies. Avoid taking herbs or nutritional supplements without talking to your doctor first.
Taking good care of your overall health may help you feel better and improve some of the symptoms of primary biliary cirrhosis:
Choose reduced-sodium foods. Opt for low-sodium foods or naturally sodium-free foods, since sodium contributes to tissue swelling and to the buildup of fluid in your abdominal cavity (ascites).
Exercise most days of the week. Exercise may reduce your risk of bone loss.
Avoid alcohol. Your liver processes the alcohol you drink, and the added stress can cause liver damage. Generally, people with primary biliary cirrhosis should abstain from alcohol.
Check with your doctor before starting new medications or dietary supplements. Because your liver isn't working normally, you'll likely be more sensitive to the effects of over-the-counter and prescription medications, as well as some dietary supplements, so check with your doctor before taking anything new.
Living with a chronic liver disease with no cure can be frustrating. Fatigue, especially, can have an impact on your quality of life. Each person finds ways to cope with the stress of a chronic disease. In time, you'll find what works for you. Until then, consider trying to:
Learn about your condition. Find out everything you want to know about primary biliary cirrhosis. The more you understand about what's going on in your body, the more active you can be in your own care. In addition to talking with your doctor, look for information at your local library and on websites affiliated with reputable organizations, such as the American Liver Foundation.
Take time for yourself. Eating well, exercising and getting enough rest can help you feel better. Try to plan ahead for times when you may need more rest.
Get help. If you have friends or family who want to help, take them up on their offers and let them know what would be most useful to you. Primary biliary cirrhosis can be exhausting, so accept the help if someone wants to do your grocery shopping, wash a load of laundry or cook your dinner.
Seek support. Strong relationships can play an important role in helping you maintain a positive attitude. If friends or family have a hard time understanding your illness, you may find that a support group can be helpful.