Scientific Publications

Categorized: Gastroenterology

Failure to follow biopsy guidelines may contribute to the under-diagnosis of celiac disease in the United States

When faced with a patient with possible celiac disease, a physician has the option to conduct several tests, including a blood test to look for gluten antibodies and nutritional deficiencies, a stool test to check for signs of malabsorption, and an endoscopy to visualize the small intestine for signs of disease and to collect biopsy specimens from the small intestine.

The last choice, small intestinal biopsy, is the current gold standard for the diagnosis of celiac disease. These biopsies are interpreted by a pathologist who checks for patterns of inflammation as well as structural changes to the lining of the intestines.

Professional guidelines from the American Gastroenterologic Association recommend that at least four samples from the lining of the small intestine be taken for an accurate diagnosis of celiac disease. However, a new study published in the July 2011 issue of Gastrointestinal Endoscopy reports that in most patients fewer biopsy samples are taken during upper endoscopy than recommended by the professional guidelines.

Dr. Robert Genta, a Inform Diagnostics GI pathologist, and his collaborators at the Celiac Disease Center at Columbia University conducted a study of over 130,000 patients whose small intestinal biopsies were diagnosed at Inform Diagnostics Life Sciences. The authors found that, in most cases, physicians took only two samples. When guidelines were followed, the diagnostic rate of celiac disease more than doubled (from 0.7% to 1.8%). Unfortunately, even when physicians strongly suspected celiac disease, more than 60% of the patients had fewer than four specimens submitted.

This study identifies one of the factors contributing to the low rate of detection of celiac disease in the United States, where between 1% and 0.5% of the population is believed to have this condition. The researchers are now trying to identify other controllable factors that may affect the way celiac disease is diagnosed.

Reference: Lebwohl B, Kapel RC, Neugut AI, Green PH, Genta RM. Adherence to biopsy guidelines increases celiac disease diagnosis. Gastrointestinal Endoscopy, 74: 103; July 2011