• Disease Overview
  • Synonyms
  • Subdivisions
  • Signs & Symptoms
  • Causes
  • Affected Populations
  • Disorders with Similar Symptoms
  • Diagnosis
  • Standard Therapies
  • Clinical Trials and Studies
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Eosinophilic Esophagitis

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Last updated: 03/04/2024
Years published: 2006, 2009, 2012, 2016, 2019, 2023


Acknowledgment

NORD gratefully acknowledges Marc E. Rothenberg, MD, PhD, Director of the Division of Allergy and Immunology, and The Cincinnati Center for Eosinophilic Disorders, Professor of Pediatrics, Dave and Denise Bunning Endowed Chair of Allergy and Immunology, Cincinnati Children’s Hospital Medical Center, University of Cincinnati College of Medicine, for assistance in the preparation of this report.


Disease Overview

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 part of the immune system and play a role in immune regulation and fighting certain infection, and their accumulation is a hallmark of allergic diseases. 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.

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Synonyms

  • allergic esophagitis
  • EoE
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Subdivisions

  • atopic and non-atopic
  • endotype 1, 2 and 3 defined by esophageal transcript expression
  • fibrostenotic defined by endoscopic findings
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Signs & Symptoms

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 (impaction); 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 EoE patients do not typically have GERD upon diagnostic workup. Recently, it has been appreciated that some patients with pronounced esophageal eosinophilia can have complete responses to proton pump inhibitor (PPI) therapy, typically used for the treatment of GERD, but these patients do not typically have GERD but rather EoE that is responsive to PPIs.  PPI exert this therapeutic effect by direct action rather than blockade of stomach acid alone. For example, PPIs are also ligands (bind to) the aryl hydrocarbon receptor and this elicits an anti-inflammatory and anti-proliferative effect in the esophagus. PPI responsive esophageal eosinophilia has largely overlapping clinical, histological and molecular characteristics with PPI-resistant esophageal eosinophilia, but entities are referred to as EoE and usage of PPIs is now considered a treatment of EoE. Individuals with eosinophilic esophagitis often have allergic diseases such as asthma or eczema.

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Causes

Eosinophilic esophagitis is associated with the presence of many eosinophils in the esophagus driven by an immune response to a variety of foods. The production and accumulation of eosinophils may be caused by many factors such as immune hypersensitivity responses to particular foods or environmental proteins (allergens) in some affected individuals. Most individuals with this condition have been found to have an unusually high expression of a particular gene called eotaxin-3. This gene codes for a protein that is important in controlling the accumulation of eosinophils. Eosinophilic esophagitis can run in families but the risk for additional family members is <5% unless they are twins with the EoE patient. Several genes have been identified to contribute to EoE including CAPN14 and TSLP. A fundamental step in the development of EoE is loss of esophageal barrier function which is mediated by loss of anti-proteases such as SPINK7 and desmosomal proteins such as desmoglein-1 and dysregulated expression of the CAPN14 gene product (calpain-14). It is now appreciated that esophageal eosinophilia as well as other pathological features of EoE are driven by a strong cellular response of the adaptive immune system, primarily orchestrated by type 2 helper T cells (Th2 cells). These cells, along with esophageal mast cells, produce high levels of the cytokine interleukin (IL)-13, which is essential in eliciting multiple pathological processes in the esophagus.

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Affected populations

The overall prevalence rate, standardized to the U.S. population, has been estimated to be about 56.7/100,000, which is about 152,152 cases. EoE is still considered a rare condition in U.S., but the prevalence has increased over the past 2 decades, nearly doubling in both adults and children. It is not considered a rare condition in Europe. This condition has been reported in multiple continents including Europe, Australia and America.

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Diagnosis

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 small tissue samples are removed (biopsy) in order to count eosinophils and look for tissue injury and thickening of tissue.

Elevated expression of eotaxin-3 is part of a whole panel of dysregulated genes expressed by the esophagus of EoE patients, termed the “EoE transcriptome” which divides patients into different subgroups, referred to as endotypes.

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Standard Therapies

Treatment
Many children and adults with EoE show improvement with proton pump inhibitor therapy, as well diet modification so that allergenic food is removed, most commonly milk, egg, soy, wheat, nuts and fish. These foods are sometimes removed all at once or in a gradual manner, starting first with milk.  Some affected individuals require a liquid formula diet fed through a feeding tube. Steroid medications are often used to control inflammation. Steroids are typically given by topical delivery by swallowing formulations designed for asthma such as inhaled fluticasone or by using a slurry of liquid budesonide. Additional endoscopies and biopsies are usually necessary to monitor the effectiveness of treatment.

In 2022, a biological agent that blocks the signaling of IL-13 and the related cytokine IL-4, called dupilumab (Dupixent), was approved by the U.S. Food and Drug Administration (FDA) to treat adults and children 12 years and older with EoE. This is the first FDA approved treatment for EoE. In 2024, FDA approval for dupilumab (Dupixent) was expanded to include children ages 1 to 11. Other medicines (e.g., PPIs and steroids) are used as off-label although a swallowed glucocorticoid (budesonide) is now approved in Europe and Canada (under the tradename Jorveza).

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Clinical Trials and Studies

Research is underway to develop medications to block the proteins that underly the basic pathogenesis of EoE, as deciphered through the EoE transcriptome.  This research has laid the foundation for understanding the key role of IL-13 and clinical studies with antibodies that block this cytokine as well as its receptor (IL-4Ra, which is also shared with IL-4) are at various stages of advanced development. In particular, weekly dupilumab is now approved for the treatment of EoE in patients 12 years and older and is in active investigation for patients between 1-12 years of age.  Additional drugs that target IL-13 (such as cendakimab) are at advanced stages of development.  Research is being done on the eosinophil growth factor (IL-5 using reslizumab or mepolizumab which are approved for asthma) as well as thymic stromal lymphopoietin (TSLP using tezepelumab which is approved for asthma). Eosinophil depleting antibodies are also now available, including benralizumab (now approved for eosinophilic asthma) as well as lirentelumab (in development). Advances clinical trials with these agents have shown their potent ability to deplete esophageal eosinophils, but these drugs have not yet been demonstrated to provide clinical improvements (in terms of symptoms).  These findings draw attention away from eosinophils as the primary culprit cell involved in disease pathogenesis.

A major advance in EoE is the formation of the Consortium of Eosinophilic Gastrointestinal Disease Researchers (CEGIR), which is part of the Rare Diseases Clinical Research Network (RDCRN), supported by the National Institute of Health through the National Center for Advancing Translational Science (NCATS). CEGIR is funded by NCATS, the National Institute of Allergy and Infectious Disease (NIAID), the National Institute of Diabetes and Digestive and Kidney Disease (NIDDK), the American Partnership for Eosinophilic Disorders (APFED) and the Campaign Urging Research for Eosinophilic Disorders (CURED). CEGIR aims to improve the lives of individuals with eosinophilic gastrointestinal disease (EGID) through innovative research, clinical expertise and education via collaboration between scientists, health care providers, patients and professional organizations. CEGIR also carries out pilot studies testing new hypotheses concerning EGID. A key mission of CEGIR is to train the next generation of physicians so they have expertise in EGID.

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
Email: prpl@cc.nih.gov

Some current clinical trials also are posted on the following page on the NORD website:
https://rarediseases.org/for-patients-and-families/information-resources/info-clinical-trials-and-research-studies/

For information about clinical trials sponsored by private sources, contact:
www.centerwatch.com

For information about clinical trials conducted in Europe, contact:
https://www.clinicaltrialsregister.eu/

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References

JOURNAL ARTICLES
Kliewer KL, Gonsalves N, Dellon ES, et al. One-food versus six-food elimination diet therapy for the treatment of eosinophilic oesophagitis: a multicentre, randomised, open-label trial. Lancet Gastroenterol Hepatol. 2023;8(5):408-421. doi:10.1016/S2468-1253(23)00012-2

Ben-Baruch Morgenstern N, Ballaban AY, Wen T, Shoda T, Caldwell JM, Kliewer K, Felton JM, Abonia JP, Mukkada VA, Putnam PE, Bolton SM, Dwyer DF, Barrett NA, Rothenberg ME. Single-cell RNA sequencing of mast cells in eosinophilic esophagitis reveals heterogeneity, local proliferation, and activation that persists in remission. J Allergy Clin Immunol 2022;149(6):2062-2077. PMID: 35304158; PMCID: PMC9177790.

Dellon ES*, Rothenberg ME*, Collins MH, Hirano I, Chehade M, Bredenoord AJ, Lucendo AJ, Spergel JM, Aceves S, Sun X, Kosloski MP, Kamal MA, Hamilton JD, Beazley B, McCann E, Patel K, Mannent LP, Laws E, Akinlade B, Amin N, Lim WK, Wipperman MF, Ruddy M, Patel N, Weinreich DR, Yancopoulos GD, Shumel B, Maloney J, Giannelou A, Shabbir A.  Dupilumab in adults and adolescents with eosinophilic esophagitis.  N Eng J Med. 2022 Dec 22; 387: 2317-2330.  PMID: 36546624 (*co-first authors).

Min S, Shoda T, Wen T, Rothenberg ME. Diagnostic merits of the eosinophilic esophagitis diagnostic panel from a single esophageal biopsy. J Allergy Clin Immunol 2022;149(2):782-787.e1. PMID: 34380050; PMCID: PMC8821114.

Morgenstern NB-B, Ballaban A, Wen T, Shoda T, Caldwell J, Kliewer K, Felton J, Abonia J, Mukkada V, Putnam P, Bolton S, Dwyer D, Barrett N, Rothenberg M. Esophageal mast cells in eosinophilic esophagitis are heterogeneous, dynamically activated and locally proliferate. J Allergy Clin Immunol 2022;149:ab74. doi: 10.1016/j.jaci.2021.12.269.

Rothenberg ME. Scientific journey to the first FDA-approved drug for eosinophilic esophagitis. J Allergy Clin Immunol 2022 Oct 6. Epub ahead of print. PMID: 36209816

Shoda T, Wen T, Caldwell JM, Ben-Baruch Morgenstern N, Osswald GA, Rochman M, Mack LE, Felton JM, Abonia JP, Arva NC, Atkins D, Bonis PA, Capocelli KE, Collins Shoda T, Wen T, Caldwell JM, et al. Loss of endothelial TSPAN12 promotes fibrostenotic eosinophilic esophagitis via endothelial cell-fibroblast crosstalk. Gastroenterology. 2022;162(2):439-453. doi:10.1053/j.gastro.2021.10.016

Zhang S, Shoda T, Aceves S, Chehade M, Collins M, Davis C, Dellon E, Falk G, Furuta G, Gonsalves N, Gupta S, Hirano I, Khoury P, Leung J, Peterson K, Spergel J, Wechsler J, Yang G-Y, Rothenberg M. A connection found between mast cells and pain in eosinophilic esophagitis. J Allergy Clin Immunol 2022;149:ab68. doi: 10.1016/j.jaci.2021.12.250.

Zhang S, Shoda T, Aceves SS, Arva NC, Chehade M, Collins MH, Dellon ES, Falk GW, Gonsalves N, Gupta SK, Hirano I, Khoury P, Leung J, Spergel AKR, Spergel JM, Wechsler JB, Yang G-Y, Furuta GT, Rothenberg ME, Consortium of Eosinophilic Gastrointestinal Disease Researchers (CEGIR) Investigators Group. Mast cell-pain connection in eosinophilic esophagitis. Allergy 2022;77(6):1895-1899. PMID: 35175645; PMCID: PMC9167217.

Dellon ES, Collins MH, Rothenberg ME, Assouline-Dayan Y, Evans L, Gupta S, Schoepfer A, Straumann A, Safroneeva E, Rodriguez C, Minton N, Hua SY, Hirano I. Long-term efficacy and tolerability of RPC4046 in an open-label extension trial of patients with eosinophilic esophagitis. Clin Gastroenterol Hepatol 2021;19(3):473-483.e17. PMID: 32205221.

Felton JM, Vallabh S, Parameswaran S, Edsall LE, Ernst K, Wronowski B, Malik A, Kotliar M, Weirauch MT, Barski A, Fulkerson PC, Rothenberg ME. Epigenetic analysis of the chromatin landscape identifies a repertoire of murine eosinophil-specific PU.1-bound enhancers. J Immunol 2021;207(4):1044-1054. PMID: 34330753; PMCID: PMC8355082.

Kamat, Siddhesh MS, MBA1; Wang, Degang PhD1; Mujumdar, Urvi PhD2; McCann, Eilish PhD3; Chuang, Chien-Chia PhD, MSc2; Jalbert, Jessica PhD1; Chehade, Mirna MD, MPH4. S415 Increasing Prevalence of Eosinophilic Esophagitis in the United States from 2015 to 2018. The American Journal of Gastroenterology 2021;116:S184-S185. https://journals.lww.com/ajg/fulltext/2021/10001/s415_increasing_prevalence_of_eosinophilic.415.aspx

Kottyan LC, Trimarchi MP, Lu X, Caldwell JM, Maddox A, Parameswaran S, Lape M, D’Mello RJ, Bonfield M, Ballaban A, Mukkada V, Putnam PE, Abonia P, Ben Baruch N, Eapen AA, Wen T, Weirauch MT, Rothenberg ME. Replication and meta-analyses nominate numerous eosinophilic esophagitis risk genes. J Allergy Clin Immunol 2021;147(1):255-266. PMID: 33446330; PMCID: PMC8082436.

Lyles JL, Martin LJ, Shoda T, Collins MH, Trimarchi MP, He H, Kottyan LC, Mukkada VA, Rothenberg ME. Very early onset eosinophilic esophagitis is common, responds to standard therapy, and demonstrates enrichment for CAPN14 genetic variants. J Allergy Clin Immunol 2021;147(1):244-254.e6. PMID: 33446329; PMCID: PMC7810971.

Rochman M, Xie YM, Mack L, Caldwell JM, Klingler AM, Osswald GA, Azouz NP, Rothenberg ME. Broad transcriptional response of the human esophageal epithelium to proton pump inhibitors. J Allergy Clin Immunol 2021;147(5):1924-1935. PMID: 33289661; PMCID: PMC8062577.

Shoda T, Kaufman KM, Wen T, Caldwell JM, Osswald GA, Purnima P, Zimmermann N, Collins MH, Rehn K, Foote H, Eby MD, Zhang W, Ben-Baruch Morgenstern N, Ballaban AY, Habel JE, Kottyan LC, Abonia JP, Mukkada VA, Putnam PE, Martin LJ, Rothenberg ME. Desmoplakin and periplakin genetically and functionally contribute to eosinophilic esophagitis. Nature Comm 2021;12(1):6795. PMID: 34815391; PMCID: PMC8611043.

Aceves S, Collins MH, Rothenberg ME, Furuta GT, Gonsalves N, Consortium of Eosinophilic Gastrointestinal Disease Researchers (CEGIR). Advancing patient care through the Consortium of Eosinophilic Gastrointestinal Disease Researchers (CEGIR). J Allergy Clin Immunol 2020;145(1):28-37. PMID: 31758958; PMCID: PMC6981250.

Azouz N, Klingler AM, Pathre P, Besse JA, Baruch-Morgenstern NB, Ballaban AY, Osswald GA, Brusilovsky M, Habel JE, Caldwell JM, Ynga-Durand MA, Abonia PJ, Hu YC, Wen T, Rothenberg ME. Functional role of kallikrein 5 and proteinase-activated receptor 2 in eosinophilic esophagitis. Sci Transl Med 2020;12(545):eaaz7773. PMID: 32461336; PMCID: PMC7350155.

Dellon ES, Peterson KA, Murray JA, Falk GW, Gonsalves N, Chehade M, Genta RM, Leung J, Khoury P, Klion AD, Hazan S, Vaezi M, Bledsoe AC, Durrani SR, Wang C, Shaw C, Chang AT, Singh B, Kamboj AP, Rasmussen HS, Rothenberg ME, Hirano I. Anti-Siglec-8 antibody for eosinophilic gastritis and duodenitis. N Engl J Med 2020;383(17):1624-1634. PMID: 33085861; PMCID: PMC7600443.

Dunn JLM, Shoda T, Caldwell JM, Wen T, Aceves SS, Collins MH, Dellon ES, Falk GW, Leung J, Martin LJ, Menard-Katcher P, Rudman-Spergel A, Spergel JM, Wechsler JB, Yang GY, Furuta GT, Rothenberg ME, CEGIR. Esophageal type 2 cytokine expression heterogeneity in eosinophilic esophagitis in a multi-site cohort. J Allergy Clin Immunol 2020;145(6):1629-1640.e4. PMID: 32197970; PMCID: PMC7309223.

Hirano I, Dellon ES, Hamilton JD, Collins MH, Peterson K, Chehade M, Schoepfer AM, Safroneeva E, Rothenberg ME, Falk GW, Assouline-Dayan Y, Zhao Q, Chen Z, Swanson BN, Pirozzi G, Mannent L, Graham NMH, Akinlade B, Stahl N, Yancopoulos GD, Radin A. Efficacy of dupilumab in a phase 2 randomized trial of adults with active eosinophilic esophagitis. Gastroenterology 2020;158(1):111-122.e10. PMID: 31593702.

Jensen ET, Aceves SS, Bonis PA, Bray K, Book W, Chehade M, Collins MH, Dellon ES, Falk GW, Gonsalves N, Gupta SK, Hirano I, Katzka DA, Kyle S, Mack D, Kodroff E, Leung J, Mukkada VA, Scott M, Paliana A, Sable K, Spergel JM, Strobel MJ, Krischer J, Rothenberg ME, Abonia JP, the CEGIR Investigator Group. High patient disease burden in a cross-sectional, multicenter contract registry study of eosinophilic gastrointestinal diseases. J Pediatr Gastroenterol Nutr 2020;71(4):524-529. PMID: 32541201; PMCID: PMC7574400.

Kottyan LC, Parameswaran S, Weirauch MT, Rothenberg ME, Martin LJ. The genetic etiology of eosinophilic esophagitis. J Allergy Clin Immunol 2020;145:9-15. PMID: 31910986; PMCID: PMC6984394.

Gupta SK, Falk GW, Aceves SS, et al. Consortium of Eosinophilic Gastrointestinal Disease Researchers: Advancing the Field of Eosinophilic GI Disorders Through Collaboration. Gastroenterology 2019;156:838-842.

Gupta SK, Falk GW, Aceves SS, Chehade MA, Collins MH, Dellon ES, Gonsalves N, Hirano I, Mukkada VA, Peterson KA, Spergel J, Yang GY, Furuta GT, Rothenberg ME, Consortium of Eosinophilic Gastrointestinal Disease Researchers (CEGIR). Consortium for Eosinophilic Researchers: Advancing the field of eosinophilic GI disorders through collaboration. Gastroenterology 2019;156(4):838-842. PMID: 30452923; PMCID: PMC8033416.

Hirano I, Collins MH, Assouline-Dayan Y, Evans L, Gupta S, Schoepfer AM, Straumann A, Safroneeva E, Grimm M, Smith H, Tompkins CA, Woo A, Peach R, Frohna P, Gujrathi S, Peneberg DN, Li C, Opiteck GJ, Olson A, Aranda R, Rothenberg ME, Dellon ES, HEROES Study Group. RPC4046, a monoclonal antibody against IL13, reduces histologic and endoscopic activity in patients with eosinophilic esophagitis. Gastroenterology 2019;156(3):592-603.e10. PMID: 30395812.

Hirano I, Dellon ES, Hamilton JD, et al. Efficacy of dupilumab in a phase 2 randomized trial of adults with active eosinophilic esophagitis. Gastroenterology 2019;Oct 5. pii: S0016-5085(19)41415-7. doi: 10.1053/j.gastro.2019.09.042. [Epub ahead of print]

Hirano I, Collins MH, Assouline-Dayan Y, et al. RPC4046, a monoclonal antibody against IL13, reduces histologic and endoscopic activity in patients with eosinophilic esophagitis. Gastroenterology 2019;156:592-603 e10.

Wen T, Aronow BJ, Rochman Y, Kc K, Dexheimer PH, Putnam P, Mukkada V, Foote H, Rehn K, Darko S, Douek D, Rothenberg ME. Single-cell RNA sequencing identifies inflammatory tissue T cells in eosinophilic esophagitis. J Clin Invest 2019;129(5):2014-2028. PMID: 30958799; PMCID: PMC6486341.

Azouz NP, Ynga-Durand MA, Caldwell JM, et al. The antiprotease SPINK7 serves as an inhibitory checkpoint for esophageal epithelial inflammatory responses. Sci Transl Med 2018;10.

Dellon ES, Liacouras CA, Molina-Infante J, et al. Updated International Consensus Diagnostic Criteria for Eosinophilic Esophagitis: Proceedings of the AGREE Conference. Gastroenterology 2018.

Dellon ES, Hirano I. Epidemiology and Natural History of Eosinophilic Esophagitis. Gastroenterology.2018 Jan;154(2):319-332.e3. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5794619/

Shoda T, Wen T, Aceves SS, et al. Eosinophilic oesophagitis endotype classification by molecular, clinical, and histopathological analyses: a cross-sectional study. Lancet Gastroenterol Hepatol 2018;3:477-488.

Davis BP, Rothenberg ME. Mechanisms of disease of eosinophilic esophagitis. Annu Rev Pathol. 2016 May 23; 11:365-93

Rothenberg ME. Humanized anti-IL-5 antibody therapy. Cell. 2016;165:509.

Davis BP, Stucke EM, Khorki ME, Litosh VA, Rymer JK, Rochman M, Travers J, Kottyan LC, Rothenberg ME. Eosinophilic esophagitis-linked calpain 14 is an IL-13-induced protease that mediates esophageal epithelial barrier impairment. JCI Insight 2016; 1:e86355.

Wen T, Dellon ES, Moawad FJ, Furuta GT, Aceves SS, Rothenberg ME. Transcriptome analysis of proton pump inhibitor-responsive esophageal eosinophilia reveals proton pump inhibitor-reversible allergic inflammation. J Allergy Clin Immunol. 2015;135:187-97.

Rothenberg ME. Molecular, genetic, and cellular bases for treating eosinophilic esophagitis. Gastroenterology. 2015;148:1143-57.

Molina-Infante J, Bredenoord AJ, Cheng E, Dellon ES, Furuta GT, Gupta SK, Hirano I, Katzka DA, Moawad FJ, Rothenberg ME, Schoepfer A, Spechler S, Wen T, Straumann A, Lucendo AJ. Proton pump inhibitor-responsive oesophageal eosinophilia: an entity challenging current diagnostic criteria for eosinophilic oesophagitis. Gut. 2015; 65:524-31.

Dellon ES, Jensen ET, Martin CF, Shaheen NJ & Kappelman MD. Prevalence of Eosinophilic Esophagitis in the United States. Clinical Gastroenterology and Hepatology 2014;12(4):589-596. https://www.cghjournal.org/article/s1542-3565(13)01304-9/fulltext

Kottyan LC, Davis BP, Sherrill JD Liu K, Rochman M, Kaufman K, Weirauch MT, Vaughn S, Lazaro S, Rupert AM, Kohram M, Stucke EM, Kemme KA, Magnusen A, He H, Dexheimer P, Chehade M, Wood RA, Pesek RD, Vickery BP, Fleischer DM, Lindbad R, Sampson HA, Mukkada VA, Putnam PE, Abonia JP, Martin LJ, Harley JB, Rothenberg ME. Genome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease. Nat Genet. 2014;46:895-900.

Alexander ES, Martin LJ, Collins MH, Kottyan LC, Sucharew HJ, He H, Mukkada VA, Succop PA, Pablo JP, Foote H, Eby MD, Grotjan TM, Greenler AJ, Dellon ES, Demain JG, Furuta GT, Gurian LE, Harley JB, Hopp RJ, Kagalwalla A, Kaul A, Nadeau KC, Noel RJ, Putnam PR, von Tiehl KF, Rothenberg ME. Twin and family studies reveal strong environmental and weaker genetic cues that explain high heritability of eosinophilic esophagitis. J Allergy Clin Immunol. 2014;134:1084-92.e1

Scheeren FA, Kuo AH, van Weele LJ, Cai S, Glykofridis I, Sikandar SS, Zabala M, Qian D, Lam JS, Johnston D, Volkmer JP, Sahoo D, van de Rijn M, Dirbas FM, Somlo G, Kalisky T, Rothenberg ME, Quake SR, Clarke MF. A cell-intrinsic role for TLR2-MYD88 in intestinal and breast epithelia and oncogenesis. Nat Cell Biol. 2014;16:1238-48

Henderson CJ, Abonia JP, King EC, Putnam PE, Collins MH, Franciosi JP, Rothenberg ME. Comparative dietary therapy effectiveness in remission of pediatric eosinophilic esophagitis. J Allergy Clin Immunol. 2012;129:1570-8.

Bochner BS, Book W, Busse WW, Butterfield J, Furuta GT, Gleich GJ, Klion AD, Lee JJ, Lieferman KM, Minnicozzi M, Moqbel R, Rothenberg ME, Schwartz LB, Simon HU, Wechsler ME, Weller PF. Workshop report from the National Institutes of Health Taskforce on the Research Needs of Eosinophil-Associated Diseases (TREAD). J Allergy Clin Immunol. 2012:130:587-96.

Rothenberg ME, Aceves S, Bonis PA, Collins MH, Gonsalves N, Gupta SK, Hirano I, Liacouras CA, Putnam PE, Spergel JM, Straumann A, Wershil BK, Furuta GT. Working with the US Food and Drug Administration: progress and timelines in understanding and treating patients with eosinophilic esophagitis. J Allergy Clin Immunol. 2012;130:617-9.

Sherrill JD, Rothenberg ME.Genetic dissection of eosinophilic esophagitis provides insight into disease pathogenesis and treatment strategies. J Allergy Clin Immunol. 2011;128:23-32; quiz 33-4.

DeBrosse CW, Franciosi JP, King EC, Butz BK, Greenberg AB, Collins MH, Abonia JP, Assa’ad A, Putnam PE, Rothenberg ME. Long-term outcomes in pediatric-onset esophageal eosinophilia. J Allergy Clin Immunol. 2011;128:132-8.

Liacouris C, Furuta GT, Hirano I, et al. Eosinophilic esophagitis: Updated consensus recommendations for children and adults. J Allergy Clin Immunol. 2011;128:3-20

Rothenberg ME. Biology and treatment of eosinophilic esophagitis. Gastroenterology. 2009;137:1238-1249.

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 gastrointestinal 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. Gastroenterol. 2000;95:1422-1430.

Walsh SV, et al. Allergic esophagitis in children: a clinicopathological 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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Rare Caregiver Respite Program

This first-of-its-kind assistance program is designed for caregivers of a child or adult diagnosed with a rare disorder.

Learn more https://rarediseases.org/patient-assistance-programs/caregiver-respite/

Patient Organizations


National Organization for Rare Disorders