Gastroenterologists treating patients with celiac disease face a difficult choice when deciding whether to biopsy. New European guidelines for pediatric patients suggest that serum markers and genetics are sufficient to confirm a diagnosis in many patients. U.S. guidelines still generally call for a biopsy to confirm the diagnosis.

A panel of experts will examine the science behind the current recommendations during Monday’s AGA Clinical Symposium Celiac Disease in the Postbiopsy Era.

“It’s estimated that about 1 percent of the U.S. population has celiac disease, and only 10 to 20 percent of celiac patients are currently diagnosed,” said Anthony J. DiMarino Jr., MD, AGAF, chief of the division of gastroenterology and hepatology, and director of the Celiac Center at the Thomas Jefferson University School of Medicine, Philadelphia, PA. “In the U.S. alone, that means there are probably 3 million people with celiac disease, and nearly 2.5 million are undiagnosed.”

Dr. DiMarino will co-moderate Monday’s symposium with Stefano Guandalini, MD, professor and section chief of pediatric gastroenterology, hepatology and nutrition at the University of Chicago Medicine, IL.

There’s still a general recognition that intestinal biopsy is the gold standard in the appropriate setting, Dr. DiMarino said. Endoscopic biopsies for celiac disease are extremely low-risk procedures but remain expensive, invasive and unpopular with some patients, especially in the pediatric setting, he added.

“If you can make the diagnosis reliably and reproducibly without biopsy, you may increase the frequency of diagnosis, particularly since you don’t have to go to a gastroenterologist for an endoscopic procedure,” he said. “European guidelines basically state that adequate serum levels of antibodies and a history, plus the relevant genetic markers, can make the diagnosis. You can then place them on a gluten-free diet to get them out of harm’s way and feeling better.”

On the other hand, there are some who believe that serum testing alone may have a higher level of false-positive results than biopsy. A false positive would unnecessarily subject the patient to a gluten-free diet. A gluten-free diet also complicates follow-up diagnostics.

“If you have been on a gluten-free diet for five or 10 years, your antibodies have likely normalized and a biopsy may be normal,” Dr. DiMarino said. “Often you get to the point of not being able to confirm a prior celiac diagnosis without challenging the patient with gluten for six weeks or so.”

Further complicating the question, new data suggest that the patchiness of intestinal mucosal damage in patients following a gluten-free diet may make an intestinal biopsy less accurate.

“Even a definitive diagnosis is not the end for celiac follow-up,” Dr. DiMarino said. “Patients should have regular bone-density screening, appropriate pneumococcal vaccination and assessment of antibodies yearly. First-degree family members should also be assessed for celiac disease.”

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