Disaccharidase deficiency in pediatric patients with celiac disease and intact villi

Background and aims. The "gold standard" for the diagnosis of celiac disease (CD) is the small intestinal biopsy. A significant number of biopsies are inadequate for interpretation. Furthermore, the labeling of a biopsy as a Marsh I or II is somewhat subjective and may vary with the experience of the pathologist. Our hypothesis is that patients with intact villi undergoing biopsies frequently have associated disaccharidase deficiencies (DSD). Methods. We reviewed 220 charts of pediatric patients with CD and selected those with a duodenal biopsy Marsh score of I/II. The disaccharidase (DS) levels of these patients were compared with a randomly selected, age-matched control group. DSD is defined as levels below the lower limits of normal. Results. Lactase (mean lactase = 18.8 in the control group vs. 4.2 in the diseased group, p = 0.004); sucrase (mean sucrase = 46.4 in the control group vs. 21.4 in the diseased group, p = 0.001); maltase (mean maltase = 138 in the control group vs. 52.5 in the diseased group, p = 0.001); palatinase (mean palatinase = 9.6 in the control group vs. 3.3 in the diseased group, p < 0.001). Conclusion. There is a profound deficiency of DS levels in pediatric patients with CD who have intact villi.