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Eosinophilic gastroenteritis

MedGen UID:
220382
Concept ID:
C1262481
Disease or Syndrome
Synonyms: Eosinophilic enteritis; Eosinophilic enteropathy; Eosinophilic gastroenteropathy
SNOMED CT: Eosinophilic gastroenteritis (359804008)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
HPO: HP:0032064
Monarch Initiative: MONDO:0016129
Orphanet: ORPHA2070

Definition

Eosinophilic infiltration of one or more gastrointestinal organs. Gastrointestinal eosinophilia is a broad term for abnormal eosinophil accumulation in the GI tract, involving many different disease identities. These diseases include primary eosinophil associated gastrointestinal diseases, gastrointestinal eosinophilia in HES and all gastrointestinal eosinophilic states associated with known causes. Each of these diseases has its unique features but there is no absolute boundary between them. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVEosinophilic gastroenteritis
Follow this link to review classifications for Eosinophilic gastroenteritis in Orphanet.

Conditions with this feature

Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
MedGen UID:
481620
Concept ID:
C3279990
Disease or Syndrome
IMD31C is a disorder of immunologic dysregulation with highly variable manifestations resulting from autosomal dominant gain-of-function mutations in STAT1 (600555). Most patients present in infancy or early childhood with chronic mucocutaneous candidiasis (CMC). Other highly variable features include recurrent bacterial, viral, fungal, and mycoplasmal infections, disseminated dimorphic fungal infections, enteropathy with villous atrophy, and autoimmune disorders, such as hypothyroidism or diabetes mellitus. A subset of patients show apparently nonimmunologic features, including osteopenia, delayed puberty, and intracranial aneurysms. Laboratory studies show increased activation of gamma-interferon (IFNG; 147570)-mediated inflammation (summary by Uzel et al., 2013 and Sampaio et al., 2013).
Hyper-IgE syndrome 6, autosomal dominant, with recurrent infections
MedGen UID:
1851769
Concept ID:
C5848786
Disease or Syndrome
Hyper-IgE syndrome-6 with recurrent infections (HIES6) is an autosomal dominant immunologic disorder characterized by early-childhood onset of severe refractory atopic dermatitis, IgE-mediated food and drug allergies, asthma, and eosinophilic esophagitis. Laboratory studies show increased serum IgE levels and eosinophilia. Affected individuals are susceptible to life-threatening anaphylaxis. Additional features may include allergic rhinitis, recurrent secondary infections (bacterial, viral, fungal), and short stature. Rare patients show intracerebral vascular abnormalities, including the Circle of Willis, increased risk of ruptured aneurysm, and B-cell lymphoma. The disorder results from immune dysregulation with inappropriate activation of inflammatory signaling pathways associated with a Th2 phenotype. Treatment with an IL4 (147780)/IL13 (147683) inhibitor (dupilumab) or JAK inhibitor results in clinical improvement. Sharma et al. (2023) classified this disease as a 'primary atopic disorder' (PAD). For a discussion of genetic heterogeneity of hyper-IgE syndrome, see HIES1 (147060).

Professional guidelines

PubMed

Li K, Ruan G, Liu S, Xu T, Guan K, Li J, Li J
Chin Med J (Engl) 2023 Apr 20;136(8):899-909. Epub 2023 Apr 6 doi: 10.1097/CM9.0000000000002511. PMID: 37022943Free PMC Article
Dellon ES, Gonsalves N, Abonia JP, Alexander JA, Arva NC, Atkins D, Attwood SE, Auth MKH, Bailey DD, Biederman L, Blanchard C, Bonis PA, Bose P, Bredenoord AJ, Chang JW, Chehade M, Collins MH, Di Lorenzo C, Dias JA, Dohil R, Dupont C, Falk GW, Ferreira CT, Fox AT, Genta RM, Greuter T, Gupta SK, Hirano I, Hiremath GS, Horsley-Silva JL, Ishihara S, Ishimura N, Jensen ET, Gutiérrez-Junquera C, Katzka DA, Khoury P, Kinoshita Y, Kliewer KL, Koletzko S, Leung J, Liacouras CA, Lucendo AJ, Martin LJ, McGowan EC, Menard-Katcher C, Metz DC, Miller TL, Moawad FJ, Muir AB, Mukkada VA, Murch S, Nhu QM, Nomura I, Nurko S, Ohtsuka Y, Oliva S, Orel R, Papadopoulou A, Patel DA, Pesek RD, Peterson KA, Philpott H, Putnam PE, Richter JE, Rosen R, Ruffner MA, Safroneeva E, Schreiner P, Schoepfer A, Schroeder SR, Shah N, Souza RF, Spechler SJ, Spergel JM, Straumann A, Talley NJ, Thapar N, Vandenplas Y, Venkatesh RD, Vieira MC, von Arnim U, Walker MM, Wechsler JB, Wershil BK, Wright BL, Yamada Y, Yang GY, Zevit N, Rothenberg ME, Furuta GT, Aceves SS
Clin Gastroenterol Hepatol 2022 Nov;20(11):2474-2484.e3. Epub 2022 Feb 16 doi: 10.1016/j.cgh.2022.02.017. PMID: 35181570Free PMC Article
Hirano I, Furuta GT
Gastroenterology 2020 Mar;158(4):840-851. Epub 2019 Dec 10 doi: 10.1053/j.gastro.2019.09.052. PMID: 31836530Free PMC Article

Recent clinical studies

Etiology

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
Amruthesh TM, Kini D, Yachha SK, Rao P, Shetty SS, Kumar V
Indian J Gastroenterol 2021 Jun;40(3):338-343. Epub 2021 May 28 doi: 10.1007/s12664-021-01160-0. PMID: 34047958
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
Gonsalves N
Clin Rev Allergy Immunol 2019 Oct;57(2):272-285. doi: 10.1007/s12016-019-08732-1. PMID: 30903439
Cianferoni A, Spergel JM
Curr Allergy Asthma Rep 2015 Sep;15(9):58. doi: 10.1007/s11882-015-0558-5. PMID: 26233430

Diagnosis

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
Li K, Ruan G, Liu S, Xu T, Guan K, Li J, Li J
Chin Med J (Engl) 2023 Apr 20;136(8):899-909. Epub 2023 Apr 6 doi: 10.1097/CM9.0000000000002511. PMID: 37022943Free PMC Article
Chen PH, Anderson L, Zhang K, Weiss GA
Curr Gastroenterol Rep 2021 Jul 30;23(8):13. doi: 10.1007/s11894-021-00809-2. PMID: 34331146
Hirano I, Furuta GT
Gastroenterology 2020 Mar;158(4):840-851. Epub 2019 Dec 10 doi: 10.1053/j.gastro.2019.09.052. PMID: 31836530Free PMC Article
Gonsalves N
Clin Rev Allergy Immunol 2019 Oct;57(2):272-285. doi: 10.1007/s12016-019-08732-1. PMID: 30903439

Therapy

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
Chen PH, Anderson L, Zhang K, Weiss GA
Curr Gastroenterol Rep 2021 Jul 30;23(8):13. doi: 10.1007/s11894-021-00809-2. PMID: 34331146
Hirano I, Furuta GT
Gastroenterology 2020 Mar;158(4):840-851. Epub 2019 Dec 10 doi: 10.1053/j.gastro.2019.09.052. PMID: 31836530Free PMC Article
Gonsalves N
Clin Rev Allergy Immunol 2019 Oct;57(2):272-285. doi: 10.1007/s12016-019-08732-1. PMID: 30903439
Zhang M, Li Y
J Gastroenterol Hepatol 2017 Jan;32(1):64-72. doi: 10.1111/jgh.13463. PMID: 27253425

Prognosis

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
Pineton de Chambrun G, Dufour G, Tassy B, Rivière B, Bouta N, Bismuth M, Panaro F, Funakoshi N, Ramos J, Valats JC, Blanc P
Curr Gastroenterol Rep 2018 Jul 2;20(8):37. doi: 10.1007/s11894-018-0645-6. PMID: 29968127
Pineton de Chambrun G, Desreumaux P, Cortot A
Dig Dis 2015;33(2):183-189. Epub 2015 Apr 22 doi: 10.1159/000369540. PMID: 25925921
Sattasathuchana P, Steiner JM
Anim Health Res Rev 2014 Jun;15(1):76-86. Epub 2014 May 12 doi: 10.1017/S1466252314000012. PMID: 24815742
Roufosse FE, Goldman M, Cogan E
Orphanet J Rare Dis 2007 Sep 11;2:37. doi: 10.1186/1750-1172-2-37. PMID: 17848188Free PMC Article

Clinical prediction guides

Gonsalves N, Doerfler B, Zalewski A, Yang GY, Martin LJ, Zhang X, Shoda T, Brusilovsky M, Aceves S, Thompson K, Rudman Spergel AK, Furuta G, Rothenberg ME, Hirano I
J Allergy Clin Immunol 2023 Sep;152(3):676-688. Epub 2023 Jul 18 doi: 10.1016/j.jaci.2023.05.024. PMID: 37462600Free PMC Article
Hasan SH, Taylor S, Garg S, Buras MR, Doyle AD, Bauer CS, Wright BL, Schroeder S
Pediatr Dev Pathol 2021 Nov-Dec;24(6):513-522. Epub 2021 Jun 28 doi: 10.1177/10935266211024552. PMID: 34176359Free PMC Article
Amruthesh TM, Kini D, Yachha SK, Rao P, Shetty SS, Kumar V
Indian J Gastroenterol 2021 Jun;40(3):338-343. Epub 2021 May 28 doi: 10.1007/s12664-021-01160-0. PMID: 34047958
Mueller S
Best Pract Res Clin Gastroenterol 2008;22(3):425-40. doi: 10.1016/j.bpg.2007.12.008. PMID: 18492564
Roufosse FE, Goldman M, Cogan E
Orphanet J Rare Dis 2007 Sep 11;2:37. doi: 10.1186/1750-1172-2-37. PMID: 17848188Free PMC Article

Recent systematic reviews

Walger LK, Rodriguez R, Marcolongo-Pereira C, Vicente CR, Santos MCLFS, Musso C, Rojas A, Graeff-Teixeira C
Parasitol Res 2024 Mar 6;123(3):155. doi: 10.1007/s00436-024-08177-2. PMID: 38446236
Pinte L, Băicuș C
Rom J Intern Med 2019 Dec 1;57(4):284-295. doi: 10.2478/rjim-2019-0012. PMID: 31120859
Pinte L, Baicuş C
Rom J Intern Med 2019 Jun 1;57(2):110-124. doi: 10.2478/rjim-2018-0041. PMID: 30864403
Lecouffe-Desprets M, Groh M, Bour B, Le Jeunne C, Puéchal X
Joint Bone Spine 2016 Oct;83(5):479-84. Epub 2015 Dec 19 doi: 10.1016/j.jbspin.2015.11.006. PMID: 26709253
Ito J, Fujiwara T, Kojima R, Nomura I
Allergol Int 2015 Jul;64(3):253-9. Epub 2015 Mar 30 doi: 10.1016/j.alit.2015.02.003. PMID: 26117257

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