The cause of primary biliary cirrhosis remains unclear.
Many experts consider primary biliary cirrhosis an autoimmune disease in which the body turns against its own cells, although it's likely that genetic and environmental factors also play a part. Primary biliary cirrhosis develops slowly. Medication can slow the progression of the disease, especially if treatment begins early.
Symptoms
Early stage
Although some people with primary biliary cirrhosis remain symptom-free for years after they're diagnosed, others experience a number of symptoms early in the disease:
- Fatigue. A common symptom of primary biliary cirrhosis is fatigue, but doctors haven't found any correlation between the degree of exhaustion and the severity of the illness. This means that people with mild primary biliary cirrhosis and those with more serious disease may be equally fatigued.
- Itching. Another common symptom, itching (pruritus), is often most bothersome over your legs, arms and back. The severity of itching may change, often becoming worse at night and improving during the day. Nighttime itching can disturb sleep, making fatigue worse and sometimes leading to depression. The cause of this severe itching isn't clear.
- Dry eyes and mouth (sicca syndrome). Sicca syndrome often occurs in people with other autoimmune disorders. It causes inflammation in the moisture-secreting glands of the eyes and mouth, resulting in the decreased production of tears and saliva.
Later stage
As the destruction of bile duct and liver cells progresses, other signs and symptoms may develop, such as:
- Jaundice. A common sign of advanced liver disease, jaundice turns your skin and the whites of your eyes yellow. The discoloration is due to high blood levels of bilirubin, a byproduct of the breakdown of the hemoglobin from old or damaged red blood cells. Normally, bile carries bilirubin out of your liver so that it can be excreted from your body. But as more bile ducts are destroyed and the flow of bile slows, bilirubin begins to build up in your blood and eventually jaundice becomes visible in your skin and eyes.
- Hyperpigmentation. Inadequate bile flow increases the production of the skin pigment melanin. This causes your skin to become darker, even in areas that aren't exposed to the sun. Sometimes the deeper color isn't uniform, and your skin appears blotchy.
- Swollen feet (edema) and abdomen (ascites). As liver damage progresses, your body begins to retain salt and fluids. At first, the excess salt and water accumulate mainly in your feet and ankles (edema), which tend to become more swollen late in the day. In time, fluid can also collect in your abdomen.
- Cholesterol deposits (xanthomas). Your body uses bile as the main way of eliminating excess cholesterol. When disease interferes with this process, the amount of cholesterol in the blood increases. This can lead to the formation of fatty deposits in the skin around your eyes, your eyelids, or in the creases in your palms, soles, elbows or knees. These raised, waxy growths usually don't appear until blood cholesterol reaches very high levels. Even then, not everyone with primary biliary cirrhosis develops them.
- Digestive problems. Because bile is essential for the digestion and absorption of fats, primary biliary cirrhosis can cause intestinal problems. These include diarrhea and steatorrhea — greasy, bad-smelling stools that result from poor fat digestion.
Risk factors
- Your sex. More than 90 percent of people with primary biliary cirrhosis are women.
- Your age. Most people diagnosed with primary biliary cirrhosis are 35 to 60 years old. Although older adults can develop the disease, it's rare in children.
- Family history. Having a family history of primary biliary cirrhosis increases your risk of developing the disease.
Complications
As liver damage progresses, people with primary biliary cirrhosis may develop a number of serious problems, including:
- Cirrhosis. The term "primary biliary cirrhosis" isn't entirely accurate because cirrhosis develops only in the later stages of the disease — often many years after diagnosis. Yet when it does occur, cirrhosis can be life-threatening because it interferes with your liver's ability to carry out essential functions. Cases of primary biliary cirrhosis are divided into four stages. The first stage — inflammation of the bile ducts — is the least serious, and stage 4 — cirrhosis — the most serious. Ongoing cirrhosis can lead to liver failure, which occurs when your liver is no longer able to function.
- 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 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, hormones, drugs and other toxins aren't filtered properly before entering your bloodstream.
- 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). Liver scarring interferes with your liver's ability to process vitamin D and calcium, both of which are essential for bone growth and health. As a result, weak, brittle bones and bone loss may be complications of late-stage primary biliary cirrhosis, and your doctor may order a bone density test to look for osteoporosis.
- Vitamin deficiencies. A lack of bile affects the absorption of fats and of the fat-soluble vitamins, A, D, E and K. This sometimes leads to deficiencies of these vitamins in advanced cases of primary biliary cirrhosis.
- Cognitive impairment. Some people with primary biliary cirrhosis have problems with memory and concentration. Cognitive difficulties don't seem to correlate directly to the amount of liver damage, however.
Other complications
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 disease. Thyroid problems are common in people with primary biliary cirrhosis. They may appear long before bile duct damage is diagnosed, or thyroid disorders may develop after you've received a diagnosis of primary biliary cirrhosis.
- Limited scleroderma (CREST syndrome). This immune system disorder is a subset of scleroderma, a disease that leads to thickening, tightening and hardening of connective tissue. CREST syndrome can affect many body systems, including your blood vessels and esophagus, and sometimes your digestive tract, lungs and heart. People with primary biliary cirrhosis generally have some, rather than all, of the signs and symptoms of CREST.
- Raynaud's phenomenon. One of the components of CREST, Raynaud's phenomenon may also occur in people with primary biliary cirrhosis. It occurs when small blood vessels (capillaries) spasm in response to cold or emotional stress, blocking the flow of blood. The areas of affected skin generally turn white before becoming blue, cold and numb. When circulation improves, the skin usually reddens and may throb or tingle.
- Rheumatoid arthritis. Some people with primary biliary cirrhosis have the aching joints that typify rheumatoid arthritis, another autoimmune disorder.
Because no cure exists for primary biliary cirrhosis, treatment focuses on slowing the progress of the disease, relieving symptoms and preventing complications. Treatments aimed at slowing the disease and prolonging life include:
- Ursodeoxycholic acid (UDCA). Also known as ursodiol (Actigall), UDCA is a bile acid that helps move bile through your liver. Although UDCA doesn't cure primary biliary cirrhosis, it may prolong life if started early in the disease and is commonly considered the first line of therapy. It's less likely to help people with advanced liver damage. Side effects of UDCA may include weight gain, hair loss and diarrhea.
- Other drugs. Sometimes other drugs are used off-label or in clinical trials to treat primary biliary cirrhosis, but many have proved to have serious side effects or haven't been effective. For example, some studies show that the drug methotrexate, which is normally used to treat arthritis, psoriasis and some types of cancer, isn't helpful in primary biliary cirrhosis, whereas others show it to be somewhat effective.
- Liver transplant. When treatments no longer control primary biliary cirrhosis and the liver begins to fail, a liver transplant may help prolong life. People with primary biliary cirrhosis who have liver transplants often do very well, although the disease may recur in the new liver.
Coping and support
Although the prognosis for people with primary biliary cirrhosis is far better than it was in the past, it can still be difficult and frustrating to live with a chronic liver disease. When symptoms of the disease develop, such as fatigue and itching, they can seriously affect your quality of life. Following are some strategies that may make dealing with primary biliary cirrhosis easier:
- Educate yourself. 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 Web sites 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 offer and let them know what would be most useful to you. Primary biliary cirrhosis can be exhausting, so if someone wants to do your grocery shopping, wash a load of laundry or cook your dinner, accept the help.
- 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. Ask your doctor if there are any local support groups for people with primary biliary cirrhosis, or call the American Liver Foundation at 800-GO-LIVER (800-465-4837).
