Functional variants in the sucrase–isomaltase gene associate with increased risk of irritable bowel syndrome

“…Congenital deficiencies of sucrase‐isomaltase and trehalase are well described, being relatively common in Greenland and Alaska but not in the USA or Europe, and result in gastrointestinal symptoms consistent with those induced by carbohydrate malabsorption . Recent studies in adult populations have indicated that the presence of common and rare polymorphisms of sucrase‐isomaltase that are associated with reduced activity of the expressed protein are more common in patients with non‐constipation‐predominant patients with IBS with odds ratio of 1.36 for the more common 15Phe variant . The practice of measuring hydrolase activities in duodenal biopsies is relatively common in pediatrics, and reduced activities on one or combined enzymatic activities are frequently observed; for example, in a systematic review of more than 30,000 tests from a spectrum, of patients, lactase was reduced in 39%, maltase in 13%, sucrase in 9%, and isomaltase in 9%, and pan‐disaccharidase deficiencies may occur in up to 10% .…”

Section: Introductionmentioning

confidence: 99%

Controversies and reality of the FODMAP diet for patients with irritable bowel syndrome

Halmos

Gibson

2019

J of Gastro and Hepatol

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Since its first trial showing evidence of efficacy for managing symptoms of irritable bowel syndrome, the fermentable oligosaccharides, disaccharides, monosaccharides, and polyols (FODMAP) diet has been gaining popularity but not without criticism. Application of the diet has changed from a rigid list of “allowed” and “not allowed” foods to a structured program of initial FODMAP restriction followed by food reintroduction and finally personalization so that patients are empowered to adjust their diet themselves to achieve good predictability of symptoms. Safety concerns of the diet have centered around its initial elimination leading to compromise of nutritional and psychological health, but careful patient assessment and management, preferably through a FODMAP‐trained dietitian, will reduce the risk of such negative health outcomes. Most negative attention for the FODMAP diet has been the notion that it will ruin the microbiota. Controlled studies have indicated that reducing FODMAP intake has no effects on bacterial diversity but will reduce total bacterial abundance, and higher FODMAP intakes will increase health‐promoting bacteria, supporting the concept of the full FODMAP program, including attaining a minimal “maintenance” level of FODMAP restriction. This review addresses all these concerns in detail and how to overcome them, including the use of a “FODMAP‐gentle” diet, describing restriction of a select few foods very concentrated in FODMAPs. This version of the diet is commonly applied in practice by experienced FODMAP‐trained dietitians but is not clearly described in literature. Careful direction and assessment of response or nonresponse will decrease the risks of over‐restriction and under‐restriction of diet.

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“…We exclude those with well‐recognized conditions such as deficiencies of disaccharidases or other carbohydrate‐digesting enzymes (e.g., lactase, trehalase and sucrase‐isomaltase) which may have a similar presentation. The role of acquired mucosal disaccharidase deficiencies is still relatively uninvestigated and further studies are warranted …”

Section: Introductionmentioning

confidence: 99%

“…The role of acquired mucosal disaccharidase deficiencies is still relatively uninvestigated and further studies are warranted. 6,7 Most of the patients we describe would be classified as having functional bowel syndrome using the Rome IV criteria. 8 With an estimated global prevalence of 11.2%, functional bowel syndromes are common, which results in many patients seeking medical help because of these symptoms.…”

Section: Introductionmentioning

confidence: 99%

Enzyme therapy for functional bowel disease‐like post‐prandial distress

Graham

Ketwaroo

Money

et al. 2018

J of Digest Diseases

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Post-prandial gastrointestinal symptoms such as diarrhea, abdominal distension, flatulence, bloating and a feeling of fullness are common complaints of often unknown etiology and pathogenesis. There is a long history of trials reporting the successful use of products containing a variety of combinations of digestive enzymes including a number of randomized placebo-controlled trials. We provide a narrative review of studies describing the use of multi-digestive enzymes for symptoms consistent with irritable bowel syndrome. We describe clinical trials reported over the past 60 years including double-blinded randomized, placebo-controlled studies and recent trials that focused on post-prandial diarrhea consistent with diarrhea-predominant irritable bowel syndrome. Disaccharidase deficiencies or deficiencies of other carbohydrate digesting enzymes were excluded. Worldwide studies have generally reported success with multi-enzyme preparations although none used a factorial design to identify subgroups or attempted to link specific symptom responses to specific components of therapy. Although there is a long history of the successful use of multi-enzyme preparations for post-prandial symptoms consistent with irritable bowel syndrome, long-term studies using validated scoring systems and factorial designs are needed to confirm the results for specific symptoms and the components of the combination drugs received.

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Functional variants in the sucrase–isomaltase gene associate with increased risk of irritable bowel syndrome

Cited by 130 publications

References 39 publications

Dietary therapies for functional bowel symptoms: Recent advances, challenges, and future directions

Dietary therapies for functional bowel symptoms: Recent advances, challenges, and future directions

Controversies and reality of the FODMAP diet for patients with irritable bowel syndrome

Enzyme therapy for functional bowel disease‐like post‐prandial distress

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