Familial Predisposition to Gastroesophageal Reflux
ABSTRACT & COMMENTARY
Synopsis: There may be a genetic predisposition to the development of reflux in families of patients with Barrett’s esophagus and esophageal adenocarcinoma.
Source: Romero Y, et al. Gastroenterol 1997;113:1449-1456.
The aim of this study was to look for evidence of a familial predisposition to gastroesophageal reflux and its complications. Patients with adenocarcinoma, Barrett’s esophagus, and reflux esophagitis were recruited from tertiary core and community populations. Parents and siblings of patients and their spouses’ relatives completed reflux symptom questionnaires with a response rate of 86%. Romero and colleagues found that reflux symptoms were significantly more prevalent among parents and siblings of patients with adenocarcinoma (43% vs 23%) and Barrett’s esophagus (46% vs 27%) than spouse-control relatives. No significant difference was found for the reflux esophagitis group (33% vs 29%). Reflux was more prevalent in siblings than spouses of patients with Barrett’s esophagus (41% vs 12%) and adenocarcinoma (40% vs 6%); no significant difference was found with reflux esophagitis (24% vs 32%). Reflux was associated with obesity (41% vs 28% in the non-obese); smoking (45% vs 31% in non-smokers); and male gender (39% vs 27% in women). The authors conclude that there may be a genetic predisposition to the development of reflux in families of patients with Barrett’s esophagus and esophageal adenocarcinoma. For uncomplicated reflux esophagitis, environmental factors appear to be more important.
COMMENT BY EAMONN M.M. QUIGLEY, MD
Though gastroesophageal reflux is an extremely important clinical problem and is potentially associated with such life-threatening complications as esophageal adenocarcinoma, very little is known of its epidemiology. There have been very few community surveys of gastroesophageal reflux, and those that have been performed have relied primarily on symptom identification. Thus, although the risk of Barrett’s esophagus and adenocarcinoma are well recognized among patients with gastroesophageal reflux disease, we have little information on the true risks for these complications for the patient with gastroesophageal reflux in the community. Furthermore, our understanding of the risk factors for the development of these complications owes as much to anecdote as sciencethus, the importance of this study. While this particular study may not fulfill the criteria of the ideal community survey in that it did not go out into the community and identify reflux patients, define the status of their GERD, and then follow them prospectively, it does represent a significant contribution to our understanding of GERD. First, these authors, yet again, shot down the myth of GERD as a female disease. Second, they confirmed the association of reflux with obesity and smoking. Most importantly, and for the first time, they have suggested a contribution for genetic factors to Barrett’s esophagus and adenocarcinoma but not GERD in general. Here, therefore, is a distinct clue that a genetic factor may be responsible, at least in part, for the development of Barrett’s and, subsequently, adenocarcinoma. A variety of genetic markers have been proposed as relevant to the development of Barrett’s, and it does not seem unreasonable to hypothesize that for an individual to develop Barrett’s, reflux must occur in the context of a particular genetic predisposition.
This would certainly explain why many patients with reflux do not develop Barrett’s and even fewer still develop adenocarcinoma. The clinical expression of reflux may therefore depend not only on the volume and composition of the refluxate, but also on the host response.
Reference
1. Quigley EMM. Gastro-oesophageal reflux disease (GORD)Spectrum or continuum? Quart J Med 1997;90:75-78.
In the study by Romero and colleagues, reflux was associated with which of the following?
a. Smoking
b. Obesity
c. Male gender
d. All of the above
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