title: Identification of Barrett's esophagus in relatives by endoscopic screening.
abstract: OBJECTIVE
  Familial aggregation of Barrett's esophagus and its associated cancers has been termed familial Barrett's esophagus (FBE). The aim of the study was to determine whether endoscopic screening would identify Barrett's esophagus (BE) in relatives of probands with BE or esophageal adenocarcinoma (EAC).
  
  
  METHODS
  All living first-degree relatives of patients with long segment BE or EAC presenting to the endoscopy suite of two academic hospitals were sent validated questionnaires inquiring about gastroesophageal reflux symptoms and prior endoscopic evaluation. First-degree relatives of affected probands or affected relatives who reported no prior upper endoscopy were offered screening unsedated esophagoscopy. Relatives with chronic gastroesophageal reflux symptoms were also offered an alternative of conventional sedated upper endoscopy. The yield of screening endoscopy was measured. Screening endoscopy findings were then compared between family members of known FBE patients and those with "isolated" disease.
  
  
  RESULTS
  One hundred and ninety-eight relatives from 69 families, 23 known FBE probands and 46 probands with apparently "isolated" disease, were enrolled. Forty relatives (29 FBE relatives and 11 relatives of probands with "isolated" disease) reported prior upper endoscopy. Screening upper endoscopies performed on 62 (25 FBE and 37 "isolated" disease relatives) of the remaining 158 relatives identified Barrett's epithelium in 13 (21%). Compared to probands with apparently "isolated" disease, Barrett's epithelium (EAC, BE, or SSBE) was identified significantly more often in siblings and offspring of FBE probands, p</= 0.05. Endoscopic screening of relatives of FBE probands identified a multigeneration multiplex FBE pedigree consistent with an autosomally dominant inherited trait. Endoscopic screening of relatives of probands with reported "isolated" diseased did not identify any new FBE pedigrees.
  
  
  CONCLUSIONS
  Endoscopy identified EAC, long-segment BE, and short-segment BE in a substantial proportion of first-degree relatives of affected members of FBE families. A familial susceptibility to develop Barrett's epithelium appears to be present in a subset of patients with BE and EAC.
authors.affiliation: Division of Gastroenterology, Department of Medicine, University Hospitals of Cleveland, Case Western Reserve University School of Medicine, Cleveland, Ohio 44106, USA.
authors.forename: Amitabh
authors.initials: A
authors.lastname: Chak
authors.forename: Ashley
authors.initials: A
authors.lastname: Faulx
authors.forename: Margaret
authors.initials: M
authors.lastname: Kinnard
authors.forename: Wendy
authors.initials: W
authors.lastname: Brock
authors.forename: Joseph
authors.initials: J
authors.lastname: Willis
authors.forename: Georgia L
authors.initials: GL
authors.lastname: Wiesner
authors.forename: Antonio R
authors.initials: AR
authors.lastname: Parrado
authors.forename: Katrina A B
authors.initials: KA
authors.lastname: Goddard
mesh_terms: D000230:Adenocarcinoma / Q000175:diagnosis / Q000209:etiology / Q000235:genetics; D000328:Adult; D000368:Aged; D001471:Barrett Esophagus / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D004938:Esophageal Neoplasms / Q000175:diagnosis / Q000209:etiology / Q000235:genetics; D004945:Esophagoscopy; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D012307:Risk Factors