Background and Aims: 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. Methods: 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. Results: 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). Conclusion: 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.
Keywords: Sucrase-isomaltase deficiency; disaccharidase deficiency; lactase deficiency; physician variability.