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