High risk of malignancy in familial Barrett's esophagus: presentation of one family

J Clin Gastroenterol. 2008 Aug;42(7):806-9. doi: 10.1097/MCG.0b013e3180329015.

Abstract

Barrett's esophagus is an acquired condition fundamentally related to the presence of severe and prolonged pathologic acid and biliary gastro-esophageal reflux. However, genetic factors may also play a role in some cases. The aim of this study is to present 3 generations of a Spanish family with the largest number of members so far reported with Barrett's esophagus or esophageal adenocarcinoma. Of the 24 members of this family studied over 3 generations, 6 patients developed esophageal adenocarcinoma, 4 Barrett's esophagus, 6 clinical symptoms of gastro-esophageal reflux disease without Barrett's esophagus, and 8 were asymptomatic. In conclusion, patients with familial Barrett's esophagus get the disease more severely with a high rate of malignancy and, therefore, the endoscopic surveillance should be closer than in cases of nonfamilial Barrett's esophagus.

MeSH terms

  • Adenocarcinoma* / etiology
  • Adenocarcinoma* / genetics
  • Adolescent
  • Adult
  • Aged, 80 and over
  • Barrett Esophagus* / complications
  • Barrett Esophagus* / genetics
  • Child
  • Esophageal Neoplasms* / etiology
  • Esophageal Neoplasms* / genetics
  • Family*
  • Female
  • Gastroesophageal Reflux / complications
  • Gastroesophageal Reflux / genetics
  • Humans
  • Male
  • Middle Aged
  • Pedigree
  • Risk*
  • Spain