Primary Biliary Cirrhosis (cont.)
John M. Vierling, MD, FACP
John M. Vierling, MD, FACP
John M. Vierling M.D. is Professor of Medicine and Surgery at the Baylor College of Medicine in Houston, Texas, where he also serves as Director of Baylor Liver Health and Chief of Hepatology. In addition, he is the Director of Advanced Liver Therapies, a center devoted to clinical research in hepatobiliary diseases at St. Luke's Episcopal Hospital. Dr. Vierling is board certified in internal medicine and gastroenterology and a Fellow of the American College of Physicians.
Leslie J. Schoenfield, MD, PhD
Leslie J. Schoenfield, MD, PhD
Dr. Schoenfield served as associate professor of medicine and consultant in gastroenterology on the faculty of the Mayo Clinic for seven years. He became a professor of medicine in residence at UCLA from 1972 to 1999 (now emeritus). He was the director of gastroenterology at Cedars-Sinai Medical Center in Los Angeles for 25 years, where he received the chief resident's teaching award, the president's award, and the pioneer of medicine award.
In this Article
What are the manifestations of diseases associated with PBC?
The manifestations of the following diseases associated with PBC will be discussed:
About 20% of patients with PBC develop an autoimmune reaction against the thyroid gland. This reaction results in an inflammation of the gland, called thyroiditis. When the thyroid gland is first inflamed, only a minority of these individuals experience thyroid tenderness or pain. This pain is usually mild and located over the gland in the front of the lower neck. In fact, most people do not experience symptoms from the thyroiditis until some months or years after the autoimmune reaction began. By then, the slow and gradual decrease in thyroid function resulting from the inflammation can cause an underproduction of thyroid hormone, called hypothyroidism.
It should be noted that the symptoms and signs of hypothyroidism, which include fatigue, weight gain, and elevated cholesterol, develop gradually and can be quite subtle. Further, they can easily be confused with those of PBC itself. Thus, physicians should periodically test thyroid function in all patients with PBC to detect hypothyroidism and to initiate treatment by replacement of thyroid hormone. Often, however, the thyroiditis occurs and the indications of hypothyroidism are found well before the diagnosis of PBC is made.
As many as one half of patients with PBC experience a sensation of dry eyes or dry mouth referred to as sicca syndrome or alternatively, as Sjogren's syndrome. This syndrome is caused by an autoimmune inflammation of the lining cells of the ducts that carry tears or saliva. Rarely, patients experience the consequences of dryness in other areas of the body including the windpipe or larynx (causing hoarseness) and the vagina. This autoimmune inflammation and drying of secretions can also occur, although even more rarely, in the ducts of the pancreas. The resulting poor pancreatic function (pancreatic insufficiency) can cause impaired absorption of fat and the fat-soluble vitamins.
Raynaud's phenomenon starts with an intense blanching (paling) of the skin of the fingers or toes when they are exposed to the cold. When the hands or feet are re-warmed, the blanching characteristically changes to a purplish discoloration and then to a bright red, often associated with throbbing pain. This phenomenon is due to the cold causing a constriction (narrowing) of the arteries that supply blood to the fingers or toes. Then, with re-warming of the hands or feet, the blood flow is restored and causes the redness and pain. Raynaud's phenomenon is often associated with scleroderma. For more information about this phenomenon, please read the Raynaud's phenomenon. article
Approximately 5% to 15% of patients with PBC develop mild scleroderma, a condition in which the skin around the fingers, toes, and mouth becomes tight. In addition, scleroderma involves the muscles of the esophagus and small intestine. The esophagus connects the mouth to the stomach, and its muscles help to propel swallowed food into the stomach. In addition, a band of muscle (the lower esophageal sphincter), which is located at the junction of the esophagus and stomach, has two other functions. One is to open to let food pass into the stomach. The other is to close in order to prevent the stomach juices that contain acid from flowing back into the esophagus.
Therefore, scleroderma can also cause esophageal and intestinal symptoms. Thus, involvement of the esophageal muscles that propel food through the esophagus results in difficulty swallowing. Most often, patients experience this difficulty as a sensation of solid food sticking in the chest after swallowing. Involvement of the lower esophageal sphincter muscle prevents the closure of the lower end of the esophagus and thereby, allows reflux of stomach acid, causing the symptom of heartburn. The heartburn, which is not caused by a heart problem, is usually experienced as a sensation of burning in the center of the chest. Involvement of the muscles of the small intestine in scleroderma can cause a condition called bacterial overgrowth, which can lead to malabsorption of fat and diarrhea. For more about this condition, please read the Scleroderma article.
Finally, a minority of PBC patients has a variant of scleroderma referred to as CREST syndrome. The term CREST refers to Calcium deposits in the skin, Raynaud's phenomenon, muscle dysfunction of the Esophagus, tightening of the skin of the fingers called Sclerodactyly, and dilated small blood vessels beneath the skin called Telangiectasias.
An abnormal type of antibody, called rheumatoid factor, is found in the blood of most patients with rheumatoid arthritis. This antibody also is found in a small number of patients with PBC. Although some PBC patients with the rheumatoid factor also have symptoms of joint pain and stiffness, most do not.
This autoimmune disease of the gut occurs in about 6% of patients with PBC. The disease impairs intestinal absorption of dietary fat and other nutrients, resulting in diarrhea and nutritional and vitamin deficiencies. Celiac sprue is caused by intolerance to gluten, a component of wheat, barley, and rye in the diet. As already mentioned, similar symptoms can occur in PBC itself as a result of fat malabsorption due to decreased bile flow into the gut. In any case, PBC patients with the signs or symptoms of fat malabsorption should be tested for celiac sprue. The diagnosis of celiac sprue is made by finding certain serum antibodies (for example, those called antigliadin or antiendomysial antibodies), characteristic intestinal biopsy features, and a usually dramatic response to dietary restriction of gluten.
Urinary tract infections
Recurrent bacterial infections of the urine occur in some women with PBC. These infections may be without symptoms or cause a sense of a frequent, urgent need to urinate with a burning feeling while passing urine.
Patients with PBC can develop two types of gallstones in the gallbladder. One type (called cholesterol gallstones) contains mostly cholesterol, and is by far the most common type of gallstone found in the general population. The other type (called pigment gallstones) contains mostly bile pigments (including bilirubin) and calcium. This type of gallstone occurs with increased frequency in all types of cirrhosis, including PBC.
Gallstones occur in about 30% of adults in the general population and are at least twice as common in women as in men. It is not surprising, therefore, that gallstones are especially frequent in individuals having other conditions that tend to afflict women more than men, such as PBC. The most common symptom of gallstones is abdominal pain. Sometimes, they can cause nausea, fever, and/or jaundice. But the majority of gallstones do not cause any symptoms. The diagnosis of gallstones is usually made by ultrasound imaging of the gallbladder.
Other associated diseases
Rarely, an inflammatory bowel disease (ulcerative colitis or Crohn's disease), a kidney problem (renal tubular acidosis), poor pancreatic function (pancreatic insufficiency), as mentioned earlier, or a lung condition (pulmonary interstitial fibrosis) can be associated with PBC.
Medically Reviewed by a Doctor on 1/9/2014
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