Mayo Examines Genetic Influences on Barrett’s Esophagus

SAN DIEGO—Although there are some families that have a high prevalence of Barrett’s esophagus, the disease is more frequently sporadic, Yvonne Romero, MD, of the Mayo Clinic, reported at the annual meeting of the American Gastroenterological Association, held during the Digestive Disease Week conference. She and her colleagues studied symptomatic relatives of Barrett’s esophagus patients to determine if family relationships could help predict the disease.

“Esophageal cancer is curable if it’s diagnosed early, but the problem with Barrett’s esophagus is that symptoms don’t necessarily predict it,” she said. “We wanted to know if family history is a risk factor.”

Barrett’s esophagus, a change in the lining of the esophagus that Dr. Romero likens visually to “shag carpeting,” can lead to an increased risk—30- to 125-fold—of esophageal cancer. Symptoms include heartburn or acid reflux at least weekly.

Dr. Romero and her colleagues indexed 140 patients with Barrett’s esophagus, and asked them to list their living parents, siblings, and adult children. A symptom questionnaire was mailed to the relatives, and those who met the criteria (n = 682) were invited to enter the study.

Of these, 365 had had no previous endoscopy, one of the entry criteria, and 138 had reflux symptoms. The control group’s 100 subjects had no known relative with Barrett’s esophagus or esophageal cancer, and met the same criteria for reflux symptoms. One hundred of the relatives as well as the control group underwent endoscopy using the standard procedure.

The endoscopy results showed Barrett’s esophagus in eight of the relatives and five of the controls. Seventeen families were identified as having two or more members with Barrett’s esophagus, 10 of which were found by record review and seven by their endoscopic study. One relative with T1N0M0 esophageal adenocarcinoma was identified during the study and underwent a successful Ivor-Lewis esophagectomy, Dr. Romero said.

“We found that increasing age (see Table) and long duration of reflux symptoms more strongly predict Barrett’s esophagus than a family history of the condition,” Dr. Romero said, adding that these findings have implications for screening.