60 - Prevalence of Disaccharidase Deficiencies in Children with Gastrointestinal Symptoms Undergoing Esophagogastroduodenoscopy (EGD)

Functional gastrointestinal disorders (FGID) in the pediatric population are common conditions referred to the gastroenterologist. Patients often describe postprandial discomfort that contributes to their gastrointestinal symptoms. Previous literature describes disaccharidase deficiencies as a potential cause for FGID or as a concurrent condition with other chronic gastrointestinal disorders.

Objective:

The aim of the study was to determine if disaccharidase enzyme assays should be standard practice for pediatric patients with abdominal pain that undergo a diagnostic esophagogastroduodenoscopy (EGD). The study determined the prevalence of disaccharidase deficiency among pediatric patients and established the most common symptoms associated with disaccharidase deficiency.

Design/Methods:

For pediatric patients undergoing an initial EGD, a disaccharidase enzyme assay collected from the distal duodenum was performed as standard practice at the Children's Hospital of Georgia at Augusta University. A retrospective chart review was performed for patients ages 0 to 21 years old who underwent an EGD from 2014 to 2020. Data collected included demographics, symptoms, diagnosis, and disaccharidase levels including lactase, maltase, palatinase, and sucrase. Analysis of the data was performed using Statistical Analysis Software (SAS) 9.4S.

Results:

1247 pediatric patients were included in the study. 544 patients (43.6%) had at least one disaccharidase deficiency. Lactase deficiency was observed in 517 patients (41.5%); Maltase deficiency in 146 patients (11.7%); palatinase deficiency in 92 patients (7.4%) and Sucrase deficiency in 90 patients (7.2%). The primary symptoms identified in patients with disaccharidase deficiency overall were abdominal pain (n=397, 72.9%), nausea/vomiting (n=157, 38.86%), reflux (n=113; 21.0%) and diarrhea (n=98, 18%).

Conclusion(s):

Symptoms of lactase and pan-disaccharidase deficiency have overlapping features with chronic gastrointestinal disorders including FGID. Our study demonstrated that disaccharidase deficiencies are common in pediatrics, which supports it as a key consideration for those that present with gastrointestinal symptoms. Disaccharidase assays should be considered as part of a diagnostic EGD when symptoms of chronic gastrointestinal disorders are present. By identifying a disaccharidase enzyme deficiency, patients may implement targeted intervention to reduce their symptoms and potentially increase overall quality of life for those with FGID.