Information on the following diseases can be found in the Related Disorders section of this report:

• Achalasia
• Gastroesophageal Reflux
• Hiatal Hernia

The symptoms of Barrett esophagus may be present for weeks or years and include ongoing pain in the upper middle area of the abdomen behind the breastbone (sternum). Pain may also extend to areas of the collarbone, neck (scapula), and/or the arms. Affected individuals typically notice discomfort after eating food that is particularly acidic, hot, or cold and/or while lying down. Late symptoms of Barrett esophagus may include difficulty swallowing (dysphagia), vomiting, and/or the return of swallowed food into the mouth (regurgitation). Some affected individuals may have very dark stools (melena) and experience bloody vomit (hematemesis) and/or weight loss.

Some people with Barrett esophagus may eventually develop cancer (adenocarcinoma) in the mucous that lines the esophagus. This is estimated to occur in approximately 10 percent of affected individuals.

Barrett esophagus may be acquired or it may run in families.

The symptoms of Barrett esophagus occur because of chronic gastroesophageal reflux and inflammation causing damage to the lining of the esophagus. Inflammation occurs because of the reflux of acid and pepsin from the stomach. Deep ulcers may penetrate or puncture (perforate) the wall of the esophagus. Barrett esophagus may also occur in association with a chronic hiatal hernia. In these cases, it is not hereditary and occurs because of repeated injuries to the tissue of the esophagus.

Barrett esophagus has been reported in several members of a few affected families (kindreds), supporting the possibility of genetic susceptibility as a factor in some cases. A person who is genetically predisposed to a disorder carries a gene (or genes) for the disease, but it may not be expressed unless it is triggered by something in the environment (multifactorial inheritance). According to the medical literature, familial cases of Barrett esophagus are consistent with an autosomal dominant mode of inheritance.

Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in the appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50 percent for each pregnancy regardless of the sex of the resulting child.

Barrett esophagus is a rare disorder that affects males more often than females (3:1). It typically affects middle age or elderly people but may also affect children. The average age at diagnosis is 55. In some rare cases, Barrett esophagus may be present at birth (congenital). Barrett esophagus affects approximately 5,000 to 7,000 individuals in the United States per year. The overall prevalence rate ranges from 25,000 to 30,000 individuals in the United States. Incidence rates in Europe are similar.
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Symptoms of the following disorders can be similar to those of Barrett Esophagus. Comparisons may be useful for a differential diagnosis:

Achalasia is a rare disorder of the esophagus characterized by the abnormal enlargement of the esophagus, an impairment in the ability of the esophagus to push food down toward the stomach (peristalsis), and the failure of the ring-shaped muscle (sphincter) at the bottom of the esophagus to relax. The symptoms of Achalasia typically appear gradually. People with this disorder may initially experience an impairment in the ability to swallow (dysphagia). Early symptoms may include mild pain in the chest, cough, and/or the regurgitation of food from the stomach. (For more information on this disorder, choose "Achalasia" as your search term in the Rare Disease Database.)

Gastroesophageal Reflux is a common gastrointestinal disorder characterized by the backward flow of the contents of the stomach and/or the small intestine into the mouth. The most common symptom of this disorder is a sensation of warmth or burning in the chest and/or neck area. This usually occurs at night. Patients may complain of wheezing at night, hoarseness, and a need to clear the throat repeatedly. There may also be a sensation of deep pressure at the base of the neck. (For more information on this disorder, choose "Gastroesophageal Reflux" as your search term in the Rare Disease Database.)

Hiatal Hernia is a very common digestive disorder. Symptoms may include a backward flow (reflux) of stomach contents into the esophagus (gastroesophageal reflux), pain, and/or a burning sensation in the throat. The opening in the diaphragm becomes weakened and stretched, allowing a portion of the stomach to bulge through into the chest cavity. This disorder can easily be diagnosed through testing by a radiologist.

Diagnosis
The diagnosis of Barrett esophagus may be confirmed by the microscopic examination of tissue samples (biopsy) from the lining of the esophagus. Under the microscope the cells have an abnormal "column" shape that is characteristic for this disease. Since this disorder is associated with an increased risk of cancer of the esophagus, affected individuals should be evaluated periodically by a physician who specializes in treating diseases of the throat (otolaryngologist). Annual examination of the esophagus with a specialized instrument known as an endoscope is recommended to detect early pre-malignant changes.

Treatment
The U.S. Food and Drug Administration (FDA) has approved (August 2003) porfimer sodium (Photofrin) as an alternative to surgery for patients with Barrett esophagus. This photosensitizing agent kills abnormal and potentially precancerous cells, is manufactured by Axcan Pharma, Inc. For information, contact:

Axcan Pharma, Inc.
22 Inverness Center Parkway
Birmingham, AL 35242
Tel: (205) 991-8085
Fax: (205) 991-8176

The treatment of Barrett esophagus may include the elevation of the head of the bed and the avoidance of bedtime snacks or liquids. Drug therapy may include the administration of medications that help to relieve the symptoms of gastroesophageal reflux. These may include urecholine (Bethanechol), metoclopramide (Reglan), alginic acid-antacid (Gaviscon), cimetidine (Tagamet), ranitidine (Zantac), famotidine, and/or omeprazole. People with this disorder are urged not to smoke or drink alcoholic beverages.

Some people with Barrett esophagus who do not respond to drug therapy may require surgery to remove areas of ulceration on the esophagus. Genetic counseling may be of benefit for people with the hereditary form of Barrett esophagus and their families. Other treatment is symptomatic and supportive.

Research on gastrointestinal disorders is in progress at the National Institute of Diabetes, Digestive and Kidney Diseases (NIDDK). For more information, contact the Digestive Diseases Information Clearinghouse, which is listed in the Resources section of this report.

McKusick VA., ed. Online Mendelian Inheritance in Man (OMIM). Baltimore. MD: The Johns Hopkins University; Entry No:109350; Last Update:4/30/99.

TEXTBOOKS
Ballenger JJ., ed. Diseases of the Nose, Throat, Ear, Head & Neck, 14th ed. New York, NY: Lea & Febiger Co; 1991:1315-6.

Yamada T, et al., eds. Textbook of Gastroenterology. 2nd ed. Philadelphia, PA: J.B. Lippincott Company; 1995:1229-31.

Bennett JC, Plum F., eds. Cecil Textbook of Medicine. 20th ed. Philadelphia, PA: W.B. Saunders Co; 1996:.652-57.

JOURNAL ARTICLES
van Sandick JW, et al., Surveillance of Barrett's oesophagus: physicians' practices and review of current guidelines. Eur J Gastroenterol Hepatol. 2000;12:111-7.

Overholt BF, et al., Photodynamic therapy for Barrett’s esophagus: follow-up in 100 patients. Gastrointest Endosc. 1999;49:1-7.

Weston AP, et al., Prospective multivariate analysis of clinical, endoscopic, and histological factors predictive of the development of Barrett's multifocal high-grade dysplasia or adenocarcinoma. Am J Gastroenterol. 1999;94:3413-9.

Weston AP, et al., Prospective multivariate analysis of factors predictive of complete regression of Barrett's esophagus. Am J Gastroenterol. 1999;94:3420-6.

Gross CP, et al., Management of Barret's esophagus: a national study of practice patterns and their cost implications. Am J Gastroenterol 1999;94:3440-7.

Lim KN, et al., Therapeutic options in patients with Barrett's esophagus. Dig Dis. 1999;17:145-52.

Cameron AJ, Management of Barrett's esophagus. Mayo Clin Proc. 1998;73:457-61.

Hassell E, Barrett's esophagus: congenital or acquired? Am J Gastroenterol 1993;88:1262-5.

Steritz JM, et al., Current concepts concerning the nature and treatment of Barrett's esophagus and its complications. Ann Thorac Surg. 1992;54:586-91.

Cameron AJ, et al., Barrett's esophagus: age, prevalence, and extent of columnar epithelium. Gastroenterology. 1992;103:1241-5.

Seabrook M, et al., Barrett's esophagus: observations on diagnosis and management. South Med J. 1992;85:280-8.

Williamson WA, et al., Barrett's esophagus: a surgical disease. J Thorac Cardiovasc Surg. 1992;103:2-6.

Ellis FH, et al., Barrett's esophagus. A continuing conundrum. Postgrad Med. 1991;90:135-8, 143-6.

Williamson WA, et al., Barrett's esophagus. Prevalence and incidence of adeoncarcinoma. Arch Intern Med. 1991;151:2212-6.

Altorki NK, et al., High-grade dysplasia in the columnar-lined esophagus. Am J Surg. 1991;161:97-9.