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Barrett esophagus

MedGen UID:
2551
Concept ID:
C0004763
Disease or Syndrome
Synonyms: BARRETT METAPLASIA; Barrett's esophagus
SNOMED CT: Barrett esophagus (302914006); Barretts esophagus (302914006); Columnar-lined esophagus (302914006); Gastric metaplasia of esophagus (302914006); Barrett's syndrome (302914006); Barrett's esophagus (302914006); CELLO - Columnar epithelial-lined lower esophagus (302914006); CLE - Columnar-lined esophagus (302914006); Columnar epithelial-lined lower esophagus (302914006)
 
Genes (locations): ASCC1 (10q22.1); CTHRC1 (8q22.3); MSR1 (8p22)
 
HPO: HP:0100580
Monarch Initiative: MONDO:0013662
OMIM®: 614266
Orphanet: ORPHA1232

Definition

Barrett esophagus, or Barrett metaplasia, describes the phenotypic change of normal esophageal squamous epithelium to a columnar and intestinal-type epithelium. This metaplastic change is important because patients with Barrett esophagus have an increased risk of esophageal adenocarcinoma. The main cause of Barrett metaplasia is gastroesophageal reflux (GER; 109350). The retrograde movement of acid and bile salts from the stomach into the esophagus in this disease causes prolonged injury to the esophageal epithelium and induces chronic esophagitis, which in turn is believed to trigger the pathologic changes (summary by Wong et al., 2005). [from OMIM]

Clinical features

From HPO
Barrett esophagus
MedGen UID:
2551
Concept ID:
C0004763
Disease or Syndrome
Barrett esophagus, or Barrett metaplasia, describes the phenotypic change of normal esophageal squamous epithelium to a columnar and intestinal-type epithelium. This metaplastic change is important because patients with Barrett esophagus have an increased risk of esophageal adenocarcinoma. The main cause of Barrett metaplasia is gastroesophageal reflux (GER; 109350). The retrograde movement of acid and bile salts from the stomach into the esophagus in this disease causes prolonged injury to the esophageal epithelium and induces chronic esophagitis, which in turn is believed to trigger the pathologic changes (summary by Wong et al., 2005).
Carcinoma of esophagus
MedGen UID:
56256
Concept ID:
C0152018
Neoplastic Process
The presence of a carcinoma of the esophagus.
Esophageal ulceration
MedGen UID:
56254
Concept ID:
C0151970
Disease or Syndrome
Defect in the epithelium of the esophagus, essentially an open sore in the lining of the esophagus.
Gastroesophageal reflux
MedGen UID:
1368658
Concept ID:
C4317146
Finding
A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVBarrett esophagus
Follow this link to review classifications for Barrett esophagus in Orphanet.

Conditions with this feature

Barrett esophagus
MedGen UID:
2551
Concept ID:
C0004763
Disease or Syndrome
Barrett esophagus, or Barrett metaplasia, describes the phenotypic change of normal esophageal squamous epithelium to a columnar and intestinal-type epithelium. This metaplastic change is important because patients with Barrett esophagus have an increased risk of esophageal adenocarcinoma. The main cause of Barrett metaplasia is gastroesophageal reflux (GER; 109350). The retrograde movement of acid and bile salts from the stomach into the esophagus in this disease causes prolonged injury to the esophageal epithelium and induces chronic esophagitis, which in turn is believed to trigger the pathologic changes (summary by Wong et al., 2005).
Gastroesophageal reflux disease
MedGen UID:
6553
Concept ID:
C0017168
Disease or Syndrome
Gastroesophageal reflux (GER) is characterized by the retrograde movement of stomach contents into the esophagus. In its most severe form, GER results in extensive tissue damage caused by acid reflux. In adolescents and adults, and even infrequently in children, chronic GER is associated with the risk of developing Barrett metaplasia (614266), a premalignant lesion of the esophageal mucosa (Hu et al., 2000). In turn, Barrett metaplasia is correlated with the development of adenocarcinoma of the esophagus (see 614266), estimated as the fifth most prevalent neoplasia in the Western world (Lagergren et al., 1999).
Mungan syndrome
MedGen UID:
369554
Concept ID:
C1969653
Disease or Syndrome
Mungan syndrome (MGS) is characterized by chronic intestinal pseudoobstruction (CIPO), megaduodenum, long-segment Barrett esophagus, and cardiac abnormalities of variable severity (summary by Bonora et al., 2015).
Visceral myopathy 2
MedGen UID:
1783630
Concept ID:
C5543466
Disease or Syndrome
Visceral myopathy-2 (VSCM2) is characterized by gastrointestinal symptoms resulting from intestinal dysmotility and paresis, including abdominal distention, pain, nausea, and vomiting. Some patients exhibit predominantly esophageal symptoms, with hiatal hernia and severe reflux resulting in esophagitis and stricture, whereas others experience chronic intestinal pseudoobstruction. Bladder involvement resulting in megacystis and megaureter has also been observed and may be evident at birth (Dong et al., 2019; Gilbert et al. (2020)).

Professional guidelines

PubMed

Weusten BLAM, Bisschops R, Dinis-Ribeiro M, di Pietro M, Pech O, Spaander MCW, Baldaque-Silva F, Barret M, Coron E, Fernández-Esparrach G, Fitzgerald RC, Jansen M, Jovani M, Marques-de-Sa I, Rattan A, Tan WK, Verheij EPD, Zellenrath PA, Triantafyllou K, Pouw RE
Endoscopy 2023 Dec;55(12):1124-1146. Epub 2023 Oct 9 doi: 10.1055/a-2176-2440. PMID: 37813356
Farrell B, Pottie K, Thompson W, Boghossian T, Pizzola L, Rashid FJ, Rojas-Fernandez C, Walsh K, Welch V, Moayyedi P
Can Fam Physician 2017 May;63(5):354-364. PMID: 28500192Free PMC Article
Lightdale JR, Gremse DA; Section on Gastroenterology, Hepatology, and Nutrition
Pediatrics 2013 May;131(5):e1684-95. Epub 2013 Apr 29 doi: 10.1542/peds.2013-0421. PMID: 23629618

Curated

NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) Esophageal and Esophagogastric Junction Cancers, 2024

UK NICE Guidance, NICE Guideline NG231, Barrett's oesophagus and stage 1 oesophageal adenocarcinoma: monitoring and management, 2023

UK NICE Clinical Guideline CG184, Gastro-oesophageal reflux disease and dyspepsia in adults: investigation and management, 2019

Recent clinical studies

Etiology

Sharma P
JAMA 2022 Aug 16;328(7):663-671. doi: 10.1001/jama.2022.13298. PMID: 35972481
Iyer PG, Kaul V
Mayo Clin Proc 2019 Sep;94(9):1888-1901. doi: 10.1016/j.mayocp.2019.01.032. PMID: 31486383
Peters Y, Al-Kaabi A, Shaheen NJ, Chak A, Blum A, Souza RF, Di Pietro M, Iyer PG, Pech O, Fitzgerald RC, Siersema PD
Nat Rev Dis Primers 2019 May 23;5(1):35. doi: 10.1038/s41572-019-0086-z. PMID: 31123267
Bujanda DE, Hachem C
Mo Med 2018 May-Jun;115(3):211-213. PMID: 30228724Free PMC Article
Shaheen NJ, Richter JE
Lancet 2009 Mar 7;373(9666):850-61. doi: 10.1016/S0140-6736(09)60487-6. PMID: 19269522

Diagnosis

Sharma P
JAMA 2022 Aug 16;328(7):663-671. doi: 10.1001/jama.2022.13298. PMID: 35972481
Bujanda DE, Hachem C
Mo Med 2018 May-Jun;115(3):211-213. PMID: 30228724Free PMC Article
Eluri S, Shaheen NJ
Gastrointest Endosc 2017 May;85(5):889-903. Epub 2017 Jan 18 doi: 10.1016/j.gie.2017.01.007. PMID: 28109913Free PMC Article
Shaheen NJ, Falk GW, Iyer PG, Gerson LB; American College of Gastroenterology
Am J Gastroenterol 2016 Jan;111(1):30-50; quiz 51. Epub 2015 Nov 3 doi: 10.1038/ajg.2015.322. PMID: 26526079Free PMC Article
Spechler SJ, Souza RF
N Engl J Med 2014 Aug 28;371(9):836-45. doi: 10.1056/NEJMra1314704. PMID: 25162890

Therapy

Sharma P
JAMA 2022 Aug 16;328(7):663-671. doi: 10.1001/jama.2022.13298. PMID: 35972481
Salminen P, Grönroos S, Helmiö M, Hurme S, Juuti A, Juusela R, Peromaa-Haavisto P, Leivonen M, Nuutila P, Ovaska J
JAMA Surg 2022 Aug 1;157(8):656-666. doi: 10.1001/jamasurg.2022.2229. PMID: 35731535Free PMC Article
di Pietro M, Canto MI, Fitzgerald RC
Gastroenterology 2018 Jan;154(2):421-436. Epub 2017 Aug 2 doi: 10.1053/j.gastro.2017.07.041. PMID: 28778650Free PMC Article
Kohli DR, Schubert ML, Zfass AM, Shah TU
Dis Esophagus 2017 Nov 1;30(11):1-8. doi: 10.1093/dote/dox049. PMID: 28881898
Spechler SJ, Souza RF
N Engl J Med 2014 Aug 28;371(9):836-45. doi: 10.1056/NEJMra1314704. PMID: 25162890

Prognosis

Wang SE, Kendall BJ, Hodge AM, Dixon-Suen SC, Dashti SG, Makalic E, Williamson EM, Thomas RJS, Giles GG, English DR
Dis Esophagus 2022 Jan 7;35(1) doi: 10.1093/dote/doab058. PMID: 34409990
Iyer PG, Kaul V
Mayo Clin Proc 2019 Sep;94(9):1888-1901. doi: 10.1016/j.mayocp.2019.01.032. PMID: 31486383
Vaughan TL, Fitzgerald RC
Nat Rev Gastroenterol Hepatol 2015 Apr;12(4):243-8. Epub 2015 Feb 10 doi: 10.1038/nrgastro.2015.24. PMID: 25666644Free PMC Article
Chang P, Friedenberg F
Gastroenterol Clin North Am 2014 Mar;43(1):161-73. Epub 2013 Dec 27 doi: 10.1016/j.gtc.2013.11.009. PMID: 24503366Free PMC Article
Li H
Eur J Cancer Prev 1993 Jan;2(1):47-52. doi: 10.1097/00008469-199301000-00008. PMID: 8428176

Clinical prediction guides

Sharma P
JAMA 2022 Aug 16;328(7):663-671. doi: 10.1001/jama.2022.13298. PMID: 35972481
Thota PN, Alkhayyat M, Gomez Cifuentes JD, Haider M, Bena J, McMichael J, Sohal DP, Raja S, Sanaka MR
J Clin Gastroenterol 2022 Feb 1;56(2):125-132. doi: 10.1097/MCG.0000000000001489. PMID: 33405434Free PMC Article
Kröner PT, Engels MM, Glicksberg BS, Johnson KW, Mzaik O, van Hooft JE, Wallace MB, El-Serag HB, Krittanawong C
World J Gastroenterol 2021 Oct 28;27(40):6794-6824. doi: 10.3748/wjg.v27.i40.6794. PMID: 34790008Free PMC Article
Kohli DR, Schubert ML, Zfass AM, Shah TU
Dis Esophagus 2017 Nov 1;30(11):1-8. doi: 10.1093/dote/dox049. PMID: 28881898
Naini BV, Souza RF, Odze RD
Am J Surg Pathol 2016 May;40(5):e45-66. doi: 10.1097/PAS.0000000000000598. PMID: 26813745Free PMC Article

Recent systematic reviews

Alves JR, Graffunder FP, Rech JVT, Ternes CMP, Koerich-Silva I
Arq Gastroenterol 2020 Jul-Sep;57(3):289-295. doi: 10.1590/S0004-2803.202000000-53. PMID: 33027480
Yeung KTD, Penney N, Ashrafian L, Darzi A, Ashrafian H
Ann Surg 2020 Feb;271(2):257-265. doi: 10.1097/SLA.0000000000003275. PMID: 30921053
Mallick R, Patnaik SK, Wani S, Bansal A
Dig Dis Sci 2016 Apr;61(4):1039-50. Epub 2015 Nov 14 doi: 10.1007/s10620-015-3959-3. PMID: 26572780
De Souza TF, Artifon EL, Mestieri LH, Reimão SM, Aires FT, Bernardo WM, Otoch JP, De Moura EG
Rev Gastroenterol Peru 2014 Jul;34(3):217-24. PMID: 25293990
Orman ES, Li N, Shaheen NJ
Clin Gastroenterol Hepatol 2013 Oct;11(10):1245-55. Epub 2013 May 2 doi: 10.1016/j.cgh.2013.03.039. PMID: 23644385Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • NCCN, 2024
      NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) Esophageal and Esophagogastric Junction Cancers, 2024
    • NICE, 2023
      UK NICE Guidance, NICE Guideline NG231, Barrett's oesophagus and stage 1 oesophageal adenocarcinoma: monitoring and management, 2023
    • NICE, 2019
      UK NICE Clinical Guideline CG184, Gastro-oesophageal reflux disease and dyspepsia in adults: investigation and management, 2019

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