Endoscopy without biopsy may miss many with celiac disease
By Anne Harding
Half of patients with celiac disease (CD) identified by biopsy performed during gastrointestinal endoscopy had normal-looking mucosa, and nearly a quarter had atypical symptoms, Dr. Kathryn Robson of Medici Medical Center in Toowoomba, Queensland, and colleagues reported online March 4th in PLoS One.
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"At least 10% of new cases of celiac disease are likely to be undiagnosed at routine upper endoscopy, particularly patients over 60 years who more commonly present atypically," Dr. Robson and her team state.
In Australia, Dr. Robson and her team note, an estimated two out of three CD patients are undiagnosed. To investigate how many CD patients might be undiagnosed if biopsies were only done for abnormal-looking mucosa or typical symptoms, the investigators performed an audit of 35 new CD cases identified among 2,559 patients biopsied at upper endoscopy between 2004 and 2009.
Eight of the patients (23%) had minor clinical indicators for biopsy, including non-specific gastrointestinal symptoms such as vomiting and nausea or non-specific extra-intestinal symptoms including fatigue and arthralgia. All of the six children in the group had major clinical indicators for biopsy, including a family history of CD or iron deficiency. The prevalence of major clinical indicators in the CD patients declined with age; just half of the eight patients 60 and older had them.
Just 18 of the patients had grossly atrophic duodenal mucosa, the researchers found, while 12 had mild abnormalities and five had normal-appearing mucosa.
"All new CD patients could be identified in this study by performing pre-operative celiac antibody testing on all patients presenting for OGD (oesophagogastroduodenoscopy) and proceeding to biopsy only positive antibody patients and those presenting with either major (clinical indications) or abnormal duodenal mucosa for an estimated cost of AUS$4,629 and AUS$3,710, respectively," Dr. Robson and her colleagues conclude.
Currently, all pediatric patients who undergo upper endoscopy are biopsied, regardless of symptoms, and the findings show that the same should be done for adults, said Dr. Alessio Fasano, chief of the Division of Pediatric Gastroenterology and Nutrition and director of the Center for Celiac Research at Massachusetts General Hospital in Boston.
"In pediatrics this would not be a discussion," he said. "In adults the issue here is that like in Australia, in the United States adult gastroenterologists that do an endoscopy with a specific indication, if they don't see anything wrong, they tend to avoid biopsies."
In terms of cost-effectiveness, Dr. Fasano pointed out, adding $80 or so for histology to the roughly $1,000 cost of endoscopy is a worthwhile investment. "A grossly normal intestine doesn't mean a microscopically intact intestine," he added. "It doesn't really correlate."
He concluded: "People should not ever go for an endoscopy without being screened for celiac disease."
Dr. Peter Green, a professor of medicine at Columbia University and director of the Celiac Disease Center at Columbia, said the study "really doesn't present anything new," because it has already been reported that patients with normal-looking mucosa may still have CD.
In the U.S., Dr. Green noted, fewer than 20% of patients with celiac disease are diagnosed. He and his colleagues have shown that less than half of patients who undergo endoscopy for diarrhea, anemia or weight loss are biopsied. And while guidelines call for taking at least four biopsies, he added, "most people just take two."
The new findings do underscore the need for celiac disease studies to be done in individual communities, he added, given that predictors of the condition vary. For example, Dr. Green said, a study he and his colleagues did in Beirut found that local predictors of CD included being Shiite and having dermatitis.
Dr. Green agreed that every patient who undergoes endoscopy should also have a duodenal biopsy, unless a study has been done of CD in the local population and a clinician can be reasonably certain that the patient does not have the disease.
PLoS One 2014.
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