NORD is very grateful to Marc E. Rothenberg, MD, PhD, Director and Endowed Chair, Division of Allergy and Immunology, and Professor of Pediatrics, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, for assistance in the preparation of this report.
Synonyms of Eosinophilic Esophagitis
- allergic esophagitis
- atopic and non-atopic
- proton pump inhibitor (PPI) responsive and non-responsive
Eosinophilic esophagitis (EoE) is a chronic disorder of the digestive system in which large numbers of a particular type of white blood cell called eosinophils are present in the esophagus. The esophagus is the tube that carries food from the mouth to the stomach. Eosinophils are an important part of the immune system and play a role in immune regulation and fighting certain infection. This condition is characterized by vomiting, stomach or chest pain, failure to thrive (particularly in children), difficulty swallowing, and food getting stuck in the throat.
The symptoms of eosinophilic esophagitis are variable, especially in people of different ages. Common symptoms include difficulty swallowing (dysphagia); food getting stuck in the throat; nausea; vomiting; poor growth; weight loss; stomach pain; poor appetite; and malnutrition. Because of an overlap of these symptoms with gastroesophageal reflux disease (GERD), many patients are initially thought to have GERD, but EE patients do not typically respond to anti-GERD therapy and can be found not to have GERD upon diagnostic workup. Individuals with eosinophilic esophagitis often have allergic diseases such as asthma or eczema.
Eosinophilic esophagitis is caused by the presence of a large number of eosinophils in the esophagus. The production and accumulation of eosinophils may be caused by many factors such as particular foods or environmental irritants in some affected individuals. Some individuals with this condition have been found to have an unusually high expression of a particular gene called eotaxin-3 and an abnormal eotaxin-3 gene. This gene codes for a protein that is important in controlling the accumulation of eosinophils. Eosinophilic esophagitis can run in families but the mode of genetic transmission has not yet been determined.
The frequency of eosinophilic esophagitis has been estimated to be ~1 in 1,000 children. This condition has been reported in Switzerland, Australia, Canada, Japan, England and the US.
Symptoms of the following disorders are similar to those of eosinophilic esophagitis. Comparisons may be useful for a differential diagnosis:
Gastroesophageal reflux disease (GERD) is a digestive disorder characterized by reflux of the contents of the stomach or small intestines into the esophagus. Symptoms of gastroesophageal reflux may include a sensation of warmth or burning rising up to the neck area (heartburn or pyrosis), swallowing difficulties (dysphagia), and chest pain. This condition is a common problem and may be a symptom of other gastrointestinal disorders. (For more information about this condition, choose "gastroesophageal" as your search term in the Rare Disease Database.)
Ulcerative colitis is an inflammatory bowel disease (IBD) of unknown cause. It is characterized by chronic inflammation and ulceration of the lining of the major portion of the large intestine (colon). In most affected individuals, the lowest region of the large intestine, known as the rectum, is initially affected. As the disease progresses, some or all of the colon may become involved. Although associated symptoms and findings usually become apparent during adolescence or young adulthood, some individuals may experience an initial episode between 50 and 70 years of age. In other cases, symptoms may occur as early as the first year of life. (For more information about this condition, choose "colitis" as your search term in the Rare Disease Database.)
Crohn's disease is an inflammatory bowel disease characterized by severe, chronic inflammation of the intestinal wall or any portion of the gastrointestinal tract. The lower portion of the small intestine (ileum) and the rectum are most commonly affected by this disorder, but the esophagus can also be involved. Symptoms may include watery diarrhea, abdominal pain, fever, and weight loss. The exact cause of Crohn's disease is unknown. (For more information about this condition, Choose "Crohn's" as your search term in the Rare Disease Database.)
The diagnosis of eosinophilic esophagitis is often delayed because of a lack of awareness of this condition. A small tube is inserted through the mouth into the esophagus (upper endoscopy) and a small tissue sample is removed (biopsy) in order to count eosinophils, and look for tissue injury and thickening of tissue. If a diagnosis of EoE is made, allergy testing is usually then performed to determine if particular foods or environmental agents trigger esophageal symptoms or are contributing to other allergic problems.
Many children and adults with EE show improvement if the diet is modified. Some affected individuals require a liquid formula diet fed through a feeding tube. Steroid medications are often used to control inflammation if dietary changes alone are not sufficient. Additional endoscopies and biopsies are usually necessary to monitor the effectiveness of treatment.
Research is underway to develop medications to block the proteins produced as a result of the abnormal eotaxin-3 gene. In addition, research is in progress concerning the role of Interleukin-5, an eosinophil growth factor. The possibility of using Anti-IL-5, and Anti-IL-13 in the form of humanized antibodies, are promising strategies currently being tested. Companies involved in this research include GlaxoSmithKline, Cephalon, Roche, Millenium Pharmaceuticals and Cambridge Antibody Technology Group.
Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.
For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:
Tollfree: (800) 411-1222
TTY: (866) 411-1010
For information about clinical trials sponsored by private sources, contact:
Eosinophilic Esophagitis Resources
NORD Member Organizations:
(To become a member of NORD, an organization must meet established criteria and be approved by the NORD Board of Directors. If you're interested in becoming a member, please contact Susan Olivo, Membership Manager, at email@example.com.)
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Blanchard C, Wang N, Stringer, et al. Eotaxin-3 and a uniquely conserved gene-expression profile in eosinophilic esophagitis. J Clin Invest. 2006;116:536-547.
Rothenberg ME. Eosinophilic gastroentestinal disorders (EGID). J Allergy Clin Immunol. 2004;113:11-28.
Noel RJ, Putman PE, Rothenberg ME. Eosinophilic esophagitis N Engl J Med. 2004;351:940-941.
Straumann A, et al. Natural history of primary eosinophilic esophagitis: a follow-up of 30 adult patients for up to 11.5 years. Gastroenterology. 2003;125:1660-1669.
Cheung KM, Oliver MR, Cameron DJ, et al. Esophageal eosinophilia in children with dysphagia J Pediatr Gastroenterol Nutr. 2003;37:498-503.
Fox VL, Nurko S,Furuta GT. Eosinophilic esophagitis: it's not just kid's stuff. Gastrointest Endosc. Gastrointest Endosc. 2002;56(2):260-70.
Orenstein SR, et al. The spectrum of pediatric eosinophilic esophagitis beyond infancy: a clinical series of 30 children. Am J. Gsstroenterol. 2000;95:1422-1430.
Walsh SV, et al. Allergic esophagitis in children: a clinicopathologicl entity Am J Surg Pathol. 1999;23:390-396.
Kelly KJ, et al. Eosinophilic esophagitis attributed to gastroesophageal reflux: improvement with amino acid-based formula. Gastroenterology. 1995;109:1503-1512.
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