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Esophagitis, eosinophilic, 1(EOE1)

MedGen UID:
1634032
•Concept ID:
C4551589
•
Disease or Syndrome
Synonym: EOE1
 
Monarch Initiative: MONDO:0012451
OMIM®: 610247

Definition

Eosinophilic esophagitis (EOE) has an incidence of approximately 1 per 10,000 people. Symptoms include difficulty feeding, failure to thrive, vomiting, epigastric or chest pain, dysphagia, and food impaction. Individuals with EOE are predominantly young males with a high rate of atopic disease, and the diagnosis is made by endoscopy and biopsy findings of isolated eosinophils in the esophagus (summary by Rothenberg et al., 2010). Genetic Heterogeneity of Eosinophilic Esophagitis Eosinophilic esophagitis-1 (EOE1) is associated with variation at chromosome 7q11.2. Another locus (EOE2; 613412) has been been associated with variation in the TSLP gene (607003) on chromosome 5q22. [from OMIM]

Clinical features

From HPO
Epigastric pain
MedGen UID:
452270
•Concept ID:
C0232493
•
Sign or Symptom
Pain that is localized to the region of the upper abdomen immediately below the ribs.
See: Feature record | Search on this feature
Failure to thrive
MedGen UID:
746019
•Concept ID:
C2315100
•
Disease or Syndrome
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
See: Feature record | Search on this feature
Dysphagia
MedGen UID:
41440
•Concept ID:
C0011168
•
Disease or Syndrome
Difficulty in swallowing.
See: Feature record | Search on this feature
Esophagitis
MedGen UID:
4549
•Concept ID:
C0014868
•
Disease or Syndrome
Inflammation of the esophagus.
See: Feature record | Search on this feature
Vomiting
MedGen UID:
12124
•Concept ID:
C0042963
•
Sign or Symptom
Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.
See: Feature record | Search on this feature
Eosinophilia
MedGen UID:
41824
•Concept ID:
C0014457
•
Disease or Syndrome
Increased count of eosinophils in the blood.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Nutritional management of eosinophilic esophagitis.
Spergel JM, Shuker M
Gastrointest Endosc Clin N Am 2008 Jan;18(1):179-94; xi. doi: 10.1016/j.giec.2007.09.008. PMID: 18061111

Recent clinical studies

Etiology

Efficacy of Elimination Diets in Eosinophilic Esophagitis: A Systematic Review and Meta-analysis.
Mayerhofer C, Kavallar AM, Aldrian D, Lindner AK, Müller T, Vogel GF
Clin Gastroenterol Hepatol 2023 Aug;21(9):2197-2210.e3. Epub 2023 Jan 31 doi: 10.1016/j.cgh.2023.01.019. PMID: 36731591
Dupilumab in Adults and Adolescents with Eosinophilic Esophagitis.
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
N Engl J Med 2022 Dec 22;387(25):2317-2330. doi: 10.1056/NEJMoa2205982. PMID: 36546624
A Clinical Severity Index for Eosinophilic Esophagitis: Development, Consensus, and Future Directions.
Dellon ES, Khoury P, Muir AB, Liacouras CA, Safroneeva E, Atkins D, Collins MH, Gonsalves N, Falk GW, Spergel JM, Hirano I, Chehade M, Schoepfer AM, Menard-Katcher C, Katzka DA, Bonis PA, Bredenoord AJ, Geng B, Jensen ET, Pesek RD, Feuerstadt P, Gupta SK, Lucendo AJ, Genta RM, Hiremath G, McGowan EC, Moawad FJ, Peterson KA, Rothenberg ME, Straumann A, Furuta GT, Aceves SS
Gastroenterology 2022 Jul;163(1):59-76. Epub 2022 May 20 doi: 10.1053/j.gastro.2022.03.025. PMID: 35606197Free PMC Article
Pediatric eosinophilic esophagitis: a review for the clinician.
Barni S, Arasi S, Mastrorilli C, Pecoraro L, Giovannini M, Mori F, Liotti L, Saretta F, Castagnoli R, Caminiti L, Cianferoni A, Novembre E
Ital J Pediatr 2021 Nov 22;47(1):230. doi: 10.1186/s13052-021-01178-2. PMID: 34809686Free PMC Article
Epidemiology and Natural History of Eosinophilic Esophagitis.
Dellon ES, Hirano I
Gastroenterology 2018 Jan;154(2):319-332.e3. Epub 2017 Aug 1 doi: 10.1053/j.gastro.2017.06.067. PMID: 28774845Free PMC Article

Diagnosis

Joint ESPGHAN/NASPGHAN Guidelines on Childhood Eosinophilic Gastrointestinal Disorders Beyond Eosinophilic Esophagitis.
Papadopoulou A, Amil-Dias J, Auth MK, Chehade M, Collins MH, Gupta SK, Gutiérrez-Junquera C, Orel R, Vieira MC, Zevit N, Atkins D, Bredenoord AJ, Carneiro F, Dellon ES, Gonsalves N, Menard-Katcher C, Koletzko S, Liacouras C, Marderfeld L, Oliva S, Ohtsuka Y, Rothenberg ME, Strauman A, Thapar N, Yang GY, Furuta GT
J Pediatr Gastroenterol Nutr 2024 Jan;78(1):122-152. Epub 2023 Jul 4 doi: 10.1097/MPG.0000000000003877. PMID: 38291684
Emerging therapies for eosinophilic esophagitis.
Meek PD, Hemstreet B
Pharmacotherapy 2023 Apr;43(4):338-348. Epub 2023 Mar 11 doi: 10.1002/phar.2783. PMID: 36840634
Pediatric eosinophilic esophagitis: a review for the clinician.
Barni S, Arasi S, Mastrorilli C, Pecoraro L, Giovannini M, Mori F, Liotti L, Saretta F, Castagnoli R, Caminiti L, Cianferoni A, Novembre E
Ital J Pediatr 2021 Nov 22;47(1):230. doi: 10.1186/s13052-021-01178-2. PMID: 34809686Free PMC Article
Diagnosis and treatment of eosinophilic esophagitis.
Gonsalves NP, Aceves SS
J Allergy Clin Immunol 2020 Jan;145(1):1-7. doi: 10.1016/j.jaci.2019.11.011. PMID: 31910983Free PMC Article
Eosinophilic Esophagitis.
Reed CC, Dellon ES
Med Clin North Am 2019 Jan;103(1):29-42. Epub 2018 Nov 1 doi: 10.1016/j.mcna.2018.08.009. PMID: 30466674Free PMC Article

Therapy

Dupilumab in Adults and Adolescents with Eosinophilic Esophagitis.
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
N Engl J Med 2022 Dec 22;387(25):2317-2330. doi: 10.1056/NEJMoa2205982. PMID: 36546624
Diagnosis and treatment of eosinophilic esophagitis.
Gonsalves NP, Aceves SS
J Allergy Clin Immunol 2020 Jan;145(1):1-7. doi: 10.1016/j.jaci.2019.11.011. PMID: 31910983Free PMC Article
Mechanisms of Dupilumab.
Harb H, Chatila TA
Clin Exp Allergy 2020 Jan;50(1):5-14. Epub 2019 Sep 30 doi: 10.1111/cea.13491. PMID: 31505066Free PMC Article
Eosinophilic Esophagitis.
Reed CC, Dellon ES
Med Clin North Am 2019 Jan;103(1):29-42. Epub 2018 Nov 1 doi: 10.1016/j.mcna.2018.08.009. PMID: 30466674Free PMC Article
Epidemiology and Natural History of Eosinophilic Esophagitis.
Dellon ES, Hirano I
Gastroenterology 2018 Jan;154(2):319-332.e3. Epub 2017 Aug 1 doi: 10.1053/j.gastro.2017.06.067. PMID: 28774845Free PMC Article

Prognosis

A Clinical Severity Index for Eosinophilic Esophagitis: Development, Consensus, and Future Directions.
Dellon ES, Khoury P, Muir AB, Liacouras CA, Safroneeva E, Atkins D, Collins MH, Gonsalves N, Falk GW, Spergel JM, Hirano I, Chehade M, Schoepfer AM, Menard-Katcher C, Katzka DA, Bonis PA, Bredenoord AJ, Geng B, Jensen ET, Pesek RD, Feuerstadt P, Gupta SK, Lucendo AJ, Genta RM, Hiremath G, McGowan EC, Moawad FJ, Peterson KA, Rothenberg ME, Straumann A, Furuta GT, Aceves SS
Gastroenterology 2022 Jul;163(1):59-76. Epub 2022 May 20 doi: 10.1053/j.gastro.2022.03.025. PMID: 35606197Free PMC Article
Lymphocytic Esophagitis: Current Understanding and Controversy.
Pittman ME
Am J Surg Pathol 2022 Jan 1;46(1):e55-e63. doi: 10.1097/PAS.0000000000001667. PMID: 33481383
Eosinophilic Gastrointestinal Diseases in Children: A Practical Review.
Licari A, Votto M, D'Auria E, Castagnoli R, Caimmi SME, Marseglia GL
Curr Pediatr Rev 2020;16(2):106-114. doi: 10.2174/1573396315666191022154432. PMID: 31642786
Epidemiology and Natural History of Eosinophilic Esophagitis.
Dellon ES, Hirano I
Gastroenterology 2018 Jan;154(2):319-332.e3. Epub 2017 Aug 1 doi: 10.1053/j.gastro.2017.06.067. PMID: 28774845Free PMC Article
Food allergy: Epidemiology, pathogenesis, diagnosis, and treatment.
Sicherer SH, Sampson HA
J Allergy Clin Immunol 2014 Feb;133(2):291-307; quiz 308. Epub 2013 Dec 31 doi: 10.1016/j.jaci.2013.11.020. PMID: 24388012

Clinical prediction guides

Dupilumab in Adults and Adolescents with Eosinophilic Esophagitis.
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
N Engl J Med 2022 Dec 22;387(25):2317-2330. doi: 10.1056/NEJMoa2205982. PMID: 36546624
A Clinical Severity Index for Eosinophilic Esophagitis: Development, Consensus, and Future Directions.
Dellon ES, Khoury P, Muir AB, Liacouras CA, Safroneeva E, Atkins D, Collins MH, Gonsalves N, Falk GW, Spergel JM, Hirano I, Chehade M, Schoepfer AM, Menard-Katcher C, Katzka DA, Bonis PA, Bredenoord AJ, Geng B, Jensen ET, Pesek RD, Feuerstadt P, Gupta SK, Lucendo AJ, Genta RM, Hiremath G, McGowan EC, Moawad FJ, Peterson KA, Rothenberg ME, Straumann A, Furuta GT, Aceves SS
Gastroenterology 2022 Jul;163(1):59-76. Epub 2022 May 20 doi: 10.1053/j.gastro.2022.03.025. PMID: 35606197Free PMC Article
Lymphocytic Esophagitis: Current Understanding and Controversy.
Pittman ME
Am J Surg Pathol 2022 Jan 1;46(1):e55-e63. doi: 10.1097/PAS.0000000000001667. PMID: 33481383
Epidemiology and Natural History of Eosinophilic Esophagitis.
Dellon ES, Hirano I
Gastroenterology 2018 Jan;154(2):319-332.e3. Epub 2017 Aug 1 doi: 10.1053/j.gastro.2017.06.067. PMID: 28774845Free PMC Article
Food allergy: Epidemiology, pathogenesis, diagnosis, and treatment.
Sicherer SH, Sampson HA
J Allergy Clin Immunol 2014 Feb;133(2):291-307; quiz 308. Epub 2013 Dec 31 doi: 10.1016/j.jaci.2013.11.020. PMID: 24388012

Recent systematic reviews

Medical treatment of eosinophilic esophagitis.
Franciosi JP, Gordon M, Sinopoulou V, Dellon ES, Gupta SK, Reed CC, Gutiérrez-Junquera C, Venkatesh RD, Erwin EA, Egiz A, Elleithy A, Mougey EB
Cochrane Database Syst Rev 2023 Jul 20;7(7):CD004065. doi: 10.1002/14651858.CD004065.pub4. PMID: 37470293Free PMC Article
Efficacy of Elimination Diets in Eosinophilic Esophagitis: A Systematic Review and Meta-analysis.
Mayerhofer C, Kavallar AM, Aldrian D, Lindner AK, Müller T, Vogel GF
Clin Gastroenterol Hepatol 2023 Aug;21(9):2197-2210.e3. Epub 2023 Jan 31 doi: 10.1016/j.cgh.2023.01.019. PMID: 36731591
Association between eosinophilic esophagitis and esophageal dysmotility: A systematic review and meta-analysis.
Reddy SB, Ketchem CJ, Dougherty MK, Eluri S, Dellon ES
Neurogastroenterol Motil 2023 Feb;35(2):e14475. Epub 2022 Sep 27 doi: 10.1111/nmo.14475. PMID: 36168184
Treatment Trends for Eosinophilic Esophagitis and the Other Eosinophilic Gastrointestinal Diseases: Systematic Review of Clinical Trials.
Visaggi P, Ghisa M, Barberio B, Maniero D, Greco E, Savarino V, Black CJ, Ford AC, de Bortoli N, Savarino E
Dig Liver Dis 2023 Feb;55(2):208-222. Epub 2022 May 30 doi: 10.1016/j.dld.2022.05.004. PMID: 35654734
British Society of Gastroenterology (BSG) and British Society of Paediatric Gastroenterology, Hepatology and Nutrition (BSPGHAN) joint consensus guidelines on the diagnosis and management of eosinophilic oesophagitis in children and adults.
Dhar A, Haboubi HN, Attwood SE, Auth MKH, Dunn JM, Sweis R, Morris D, Epstein J, Novelli MR, Hunter H, Cordell A, Hall S, Hayat JO, Kapur K, Moore AR, Read C, Sami SS, Turner PJ, Trudgill NJ
Gut 2022 Aug;71(8):1459-1487. Epub 2022 May 23 doi: 10.1136/gutjnl-2022-327326. PMID: 35606089Free PMC Article

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