Variable Use of Disaccharidase Assays When Evaluating Abdominal Pain

Patients with a disaccharidase deficiency typically present with abdominal discomfort and often with diarrhea. However, disaccharidase deficiency is often overlooked as a cause of these complaints. Therefore, we sought to determine the prevalence of lactase and sucrase deficiencies in a pediatric population undergoing diagnostic esophagogastroduodenoscopy (EGD) and to describe disaccharidase testing practices among pediatric gastroenterologists. Endoscopic records from patients undergoing diagnostic EGD and disaccharidase analysis (DA) were retrospectively reviewed. Diagnostic EGDs performed over a 5-year period (2010 through 2014) at a freestanding endoscopy center serving 13 pediatric gastroenterologists were assessed. Demographic and clinical data on patients were collected and grouped; patients with primary sucrase-isomaltase deficiency (SID) were the main focus. The data were stratified by the physician performing the procedures. Over the 5-year study period, 5368 EGDs were performed, with abdominal pain as the primary indication in 3235 cases (60.2%). DAs were performed on 963 patients (17.9% of the total cohort; 29.8% of those with abdominal pain). Lactase deficiencies, sucrase deficiencies, and primary SID were found in 44.7%, 7.6%, and 3.5% of DAs, respectively. The number of DAs performed varied widely among physicians, ranging from 1.6% to 64.5% of EGDs evaluating patients with abdominal pain. Univariate regression analysis revealed significant correlations between the number of DAs performed and the number of SID and lactase deficiencies found (P<.001 for both). Rates of DAs vary widely among pediatric gastroenterologists performing diagnostic EGDs in children with abdominal pain. Physician education and clinical practice guidelines regarding the use of DAs are warranted.