Celiac Disease is Misdiagnosed Based on Serology Only in a Substantial Proportion of Patients

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Abstract

Background:

Although the diagnostic process in celiac disease (CeD) has been addressed in several international guidelines, little is known about the actual proceeding in current clinical practice. This study investigated the initial presentation, the diagnostic process, follow-up evaluations, and adherence to a gluten-free diet in CeD patients in a real-life setting in Switzerland from a patient’s perspective.

Methods:

We performed a large patient survey among unselected CeD patients in Switzerland.

Results:

A total of 1689 patients were analyzed. The vast majority complained of both gastrointestinal and nonspecific symptoms (71.5%), whereas 1.8% reported an asymptomatic disease course. A total of 35.8% CeD patients were diagnosed by a nongastroenterologist. The diagnostic process differed between nongastroenterologists and gastroenterologists, with the latter more often using duodenal biopsy alone or in combination with serology (94.7% vs. 63.0%) and nongastroenterologists more frequently establishing the diagnosis without endoscopy (37.0% vs. 5.3%, P<0.001). Follow-up serology after 6 months was performed only in half of all patients (49.4%), whereas 69.9% had at least 1 follow-up serology within the first year after diet initiation. About 39.7% had a follow-up endoscopy with duodenal biopsies (after a median of 12 mo; range, 1 to 600 mo). The likelihood of receiving any follow-up examination was higher in patients initially diagnosed by a gastroenterologist.

Conclusions:

A significant proportion of CeD patients are diagnosed by nongastroenterologists. Under the diagnostic lead of the latter, more than a third of the patients receive their diagnosis on the basis of a positive serology and/or genetics only, in evident violation of current diagnostic guidelines, which may lead to an overdiagnosis of this entity.

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