Disaccharidase Enzyme Deficiency in Adult Patients With Gas and Bloating.

Introduction: Disaccharidases produced by the small intestinal brush border facilitate digestion of dietary carbohydrates. If deficient, they can cause carbohydrate malabsorption, resulting in several abdominal symptoms. Our aim was to examine the prevalence of disaccharidase deficiency and correlate this with abdominal symptoms in adult patients with chronic abdominal symptoms.

Methods: In a retrospective study, patients with gas and bloating and normal endoscopy and computed tomography scan were assessed for lactase, sucrase, maltase, palatinase, and glucoamylase activity. Nine common symptoms such as pain, cramping, constipation, belching, bloating, fullness, indigestion, nausea, diarrhea, vomiting, and gas were assessed for their frequency, intensity, and duration using a validated scale, and a total symptom index was calculated and compared. K-means cluster analysis was performed on lactase-deficient and pandeficient patients with deficiency in 3 or more enzymes.

Results: Four hundred ninety-six patients (78.4% female) were enrolled of whom 143 (28.8%) had single enzyme deficiency, 9 (1.8%) had double enzyme deficiency, and 48 (9.7%) were pandeficient. The mean symptom prevalence and its severity were not significantly different between those with or without disaccharidase deficiency. Patients with pandeficiency did not have worse symptoms than those with single or double enzyme deficiency. No single symptom was more prevalent in patients with confirmed enzyme deficiency than those without. Three groups were identified in cluster analysis of pandeficient patients with one group demonstrating significantly lower average symptoms of cramping, indigestion, and nausea.

Discussion: Disaccharidase deficiency is common in adults presenting with gas, bloating, distention, and pain. Because these deficiencies are treatable with enzyme supplements or diet, an evaluation for disaccharidase deficiency should be routinely considered.