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Jeffrey Roberts

Could it be Congenital Sucrase-Isomaltase (CSID) instead of IBS-D? (DDW19)

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Jeffrey Roberts

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Chey: Congenital sucrase-isomaltase deficiency may be under-diagnosed as it is generally not on the adult GI's radar

Chey: CSID signs and symptoms are similar to IBS-D symptoms

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Chey: CSID could be considered for low FODMAP diet failures

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Chey: Sucrase-isomaltese deficiency could be seen in as high as 8% of patients. Gold standard for diagnosis is via assay; however, other less invasive testing could be considered. CSID has been associated with IBS symptoms.

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Chey: An FDA-approved product for #CSID is Sucraid (sacrosidase) Oral Solution enzyme from QOL Medical

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Jeffrey Roberts

IS SUCROSE THE SIXTH FODMAP IN A SUBSET OF PATIENTS WITH IRRITABLE BOWEL SYNDROME WITH DIARRHEA AND SUCRASE ISOMALTASE DEFICIENCY?

AuthorBlock: Shanti L. Eswaran1, Tenghao zheng2, Mauro D'Amato2, William D. Chey1
1University of Michigan, Ann Arbor, Michigan, United States;  2Center for Molecular Medicine, Karolinska University Hospital, Stockholm, Sweden; 

Patients with irritable bowel syndrome (IBS) may utilize elimination diets to mitigate their food-related gastrointestinal symptoms, a strategy which is helpful for most but not all patients with IBS. In sucrase-isomaltase (SI) deficiency, recessive mutations and variants in the SI gene (coding for the disaccharidase digesting sucrose and dietary starch) trigger bowel symptoms similar to IBS through colonic fermentation of undigested carbohydrates. We hypothesized that SI hypomorph symptomatic carriers would be less likely to benefit from standard dietary recommendations for IBS.

Methods: Salivary samples from IBS with diarrhea patients included in a previously published randomized-controlled trial of the low FODMAP diet or modified National Institute for Health and Care Excellence (mNICE) diet were analyzed for SI genotype (Illumina HumanCoreExome arrays). The genotype analysis was restricted to SI hypomorphic (pathogenic) variants as previously described[ES1] . Due to the small sample size, we stratified patients into carriers and non-carriers of hypomorphic variants (either rare or common), and compared these groups for their response to dietary treatment for the endpoints of adequate relief and reduction of abdominal pain.

Results: Four rare variants (Glu1414Lys [rs145734588]; Tyr975His [rs146785675]; Arg774Gly [rs147207752]; Pro173Ala [rs146960446]) and one common (Val15Phe [rs9290264]) variant were detected in the 46 patients previously randomized to the low FODMAP diet. [ES2] As shown in Figure 1, while an overall 52.2% of patients experienced adequate IBS-D symptom relief, SIcarriers benefited significantly less than SI non-carriers from the low FODMAP diet, with respective response rates 43.5% vs 60.9% (p = 0.0308; OR = 4.66). A similar trend was also observed for abdominal pain reduction, though this did not reach statistical significance (Figure 1). Genotype data were also available for 39 patients (from the original study) who followed the mNICE guidelines, which also reduces carbohydrate consumption. A combined FODMAP-mNICE analysis demonstrated a correlation between SI hypomorphic copy number and adequate relief rates, which were lowest in patients carrying 2 copies (16.7%) vs patients with 1 (42.1%) or no copies (56.1%) (Figure 2, p = 0.0039 OR = 3.33).

Conclusion: SI hypomorphic variants are associated with a 3-4 fold reduction in the likelihood of responding to dietary approaches that restrict the intake of carbohydrates, particularly FODMAPs. IBS-D patients who do not respond to traditional dietary interventions appear to be enriched for SID, potentially bearing implications for the development of treatment stratification strategies in IBS.

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