Original Contribution
The American Journal of Gastroenterology (2004) 99, 2107–2114; doi:10.1111/j.1572-0241.2004.40464.x
Identification of Barrett's Esophagus in Relatives by Endoscopic Screening
This research was supported by grant R03 DK061426 from the National Institute of Health.
Amitabh Chak MD1,, Ashley Faulx MD1, Margaret Kinnard MD1, Wendy Brock RN1, Joseph Willis MD1, Georgia L Wiesner MD1, Antonio R Parrado BS1 and Katrina A B Goddard PhD1
1Division of Gastroenterology, Department of Medicine, University Hospitals of Cleveland, Case Western Reserve University School of Medicine; Division of Gastroenterology, Department of Medicine, Wade Park VA Medical Center, Case Western Reserve University School of Medicine; Department of Pathology, University Hospitals of Cleveland, Case Western Reserve University School of Medicine; Center for Human Genetics and Department of Genetics, University Hospitals of Cleveland, Case Western Reserve University School of Medicine; and Department of Epidemiology and Biostatistics, Case Western Reserve University School of Medicine, Cleveland, Ohio
Correspondence: Amitabh Chak, MD, Department of Gastroenterology, Wearn 247, 11100 Euclid Avenue, University Hospitals of Cleveland, Cleveland, OH, 44106-8066
2Amitabh Chak is also supported by a Midcareer Investigator Award in Patient Oriented Research from the National Institute of Health, K24 DK02800.
Received 29 April 2004; Revised 0000; Accepted 30 April 2004.
Abstract
AIM
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.
