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Number: Su554
PREVALENCE OF SUCRASE-ISOMALTASE DEFICIENCY IN ADULTS WITH IRRITABLE BOWEL SYNDROME AND DIARRHEA AND FUNCTIONAL DIARRHEA: AN INTERIM ANALYSIS FROM A PROSPECTIVE US TRIAL

Society: AGA
Track: Obesity and Nutrition
Category: Obesity‚ Metabolism & Nutrition

Author(s): Samuel Chey¹, William D. Chey¹, Shanti L. Eswaran¹¹ Division of Gastroenterology, University of Michigan Michigan Medicine, Ann Arbor, Michigan, United States

Backround: Sucrase-Isomaltase Deficiency (SID) is a recognized cause of carbohydrate maldigestion in children but is often overlooked in adults. SID results from gene mutations or secondary enzyme deficiency in the intestinal brush border and, like lactase deficiency, can cause abdominal pain, bloating, gas, or diarrhea. Though the prevalence of SID has been reported in children, the prevalence of SID in symptomatic adults is poorly defined.
Aim: Determine the prevalence of SID in US adults with IBS-D or functional diarrhea.
Methods: In this ongoing study, adult (≥18 yrs) patients fulfulling Rome IV criteria for IBS-D or functional diarrhea were recruited. Exclusion criteria included pregnancy, other IBS subtypes, severe GI co-morbidities, or a history of previous GI surgeries. Eligible patients completed the IBS symptom severity scale (IBS-SSS) and underwent upper endoscopy with small intestinal biopsies collected from the duodenum distal to the ampulla. Biopsy specimens underwent disaccharidase assay (DA) for SI activity (normal sucrase: ≥28.0 µM/min/g, normal maltase: ≥120.8 µM/min/g) using a validated protocol at a single experienced reference lab (Arnold Palmer Hospital Labs).
Results: 58 patients (mean age=42.6 yrs, 67% IBS-D/33% functional diarrhea, 74% female, 93% white) were enrolled. Mean IBS-SSS for the study population was 232±17, with moderately severe abdominal pain and bloating scores. All patients were unhappy with their bowel habits and felt their symptoms frequently interfered with their daily lives (Figure 1). Five of 58 (9%) patients (mean age=48.6 yrs, 60% female, 100% white) tested positive for SID through DA. Mean IBS-SSS for SID+ patients was 218±48 with moderately severe abdominal pain and bloating scores. SID+ patients were equally unhappy with their bowel habits and felt their symptoms had greater interference with their daily lives compared to the entire study population (Figure 1). Four of 5 SID+ reported life-long issues with GI distress including abdominal discomfort and loose stools. Four of 5 SID+ patients reported onset of their diarrhea symptoms within 10 years of study participation. All SID+ patients had explored or were undergoing treatment for their symptoms, ranging from the low-FODMAP diet to anti-diarrheal medications, with variable benefit. Two of 5 SID+ patients were found to have carcinoid tumors shortly after study participation.
Conclusions: SID was identified in nearly 1 in 10 IBS-D or functional diarrhea patients. SID patients tended to have life-long symptoms which significantly interefered with their daily lives. These results require validation in a larger patient sample but suggest SID may be an important and overlooked cause for symptoms in US patients diagnosed with IBS-D or functional diarrhea.