Adult sucrase-isomaltase deficiency masquerading as IBS

Foley, Anna; Halmos, Emma P; Husein, Diab M; Fehily, Sasha; Löscher, Britt-Sabina; Franke, André; Naim, Hassan Y.; Gibson, Peter R; D’Amato, Mauro

doi:10.1136/gutjnl-2021-326153

Cited by 16 publications

(17 citation statements)

References 8 publications

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“…Sucrase-isomaltase (SI) gene variants coding for disaccharidases with defective or reduced enzymatic activity have been shown to predispose to IBS [ 74 ], with a common SI variant (15Phe) being strongly associated [ 72 , 75 ]. It has been suggested that the LFD may have a lower efficacy in individuals with reduced SI activity [ 76 , 77 ]. Sucrose, and in part, starch are not specifically restricted as a part of a LFD, and therefore, the role of a low sucrose and low starch diet or enzymatic supplementation requires further exploration in IBS [ 77 ], in particular for individuals carrying hypomorphic SI variants [ 78 ].…”

Section: Comparative Efficacy Of Dietary Therapiesmentioning

confidence: 99%

“…It has been suggested that the LFD may have a lower efficacy in individuals with reduced SI activity [ 76 , 77 ]. Sucrose, and in part, starch are not specifically restricted as a part of a LFD, and therefore, the role of a low sucrose and low starch diet or enzymatic supplementation requires further exploration in IBS [ 77 ], in particular for individuals carrying hypomorphic SI variants [ 78 ].…”

Section: Comparative Efficacy Of Dietary Therapiesmentioning

confidence: 99%

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Diet and irritable bowel syndrome: an update from a UK consensus meeting

Rej

Avery

Aziz

et al. 2022

BMC Med

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There has been a renewed interest in the role of dietary therapies to manage irritable bowel syndrome (IBS), with diet high on the agenda for patients. Currently, interest has focussed on the use of traditional dietary advice (TDA), a gluten-free diet (GFD) and the low FODMAP diet (LFD). A consensus meeting was held to assess the role of these dietary therapies in IBS, in Sheffield, United Kingdom.Evidence for TDA is from case control studies and clinical experience. Randomised controlled trials (RCT) have demonstrated the benefit of soluble fibre in IBS. No studies have assessed TDA in comparison to a habitual or sham diet. There have been a number of RCTs demonstrating the efficacy of a GFD at short-term follow-up, with a lack of long-term outcomes. Whilst gluten may lead to symptom generation in IBS, other components of wheat may also play an important role, with recent interest in the role of fructans, wheat germ agglutinins, as well as alpha amylase trypsin inhibitors. There is good evidence for the use of a LFD at short-term follow-up, with emerging evidence demonstrating its efficacy at long-term follow-up. There is overlap between the LFD and GFD with IBS patients self-initiating gluten or wheat reduction as part of their LFD. Currently, there is a lack of evidence to suggest superiority of one diet over another, although TDA is more acceptable to patients.In view of this evidence, our consensus group recommends that dietary therapies for IBS should be offered by dietitians who first assess dietary triggers and then tailor the intervention according to patient choice. Given the lack of dietetic services, novel approaches such as employing group clinics and online webinars may maximise capacity and accessibility for patients. Further research is also required to assess the comparative efficacy of dietary therapies to other management strategies available to manage IBS.

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Section: Comparative Efficacy Of Dietary Therapiesmentioning

confidence: 99%

Section: Comparative Efficacy Of Dietary Therapiesmentioning

confidence: 99%

Diet and irritable bowel syndrome: an update from a UK consensus meeting

Rej

Avery

Aziz

et al. 2022

BMC Med

View full text Add to dashboard Cite

show abstract

“…Patients with reduced SI activity as a contributing abnormality to their symptoms may therefore be less likely to respond favorably to dietary treatment approaches not focusing on reducing starch and sucrose in the diet, e.g., a low fermentable oligosaccharides, disaccharides, monosaccharides and polyol (FODMAP) diet or traditional IBS dietary advice, as suggested in a recent post-hoc analysis of a dietary intervention trial ( 41 ). Hence, considering reduced SI enzyme activity in patients with IBS (in particular the diarrheal subtype) should be considered when patients with meal-related symptoms do not respond favorably to standard dietary approaches, and sucrose and starch reduction may then be tested ( 42 ).…”

Section: Defective Processingmentioning

confidence: 99%

Mechanisms Underlying Food-Triggered Symptoms in Disorders of Gut-Brain Interactions

et al. 2022

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There has been a dramatic increase in clinical studies examining the relationship between disorders of gut-brain interactions and symptoms evoked by food ingestion in the upper and lower gastrointestinal tract, but study design is challenging to verify valid endpoints. Consequently, mechanistic studies demonstrating biological relevance, biomarkers and novel therapeutic targets are greatly needed. This review highlights emerging mechanisms related to nutrient sensing and tasting, maldigestion, physical effects with underlying visceral hypersensitivity, allergy and immune mechanisms, food–microbiota interactions and gut-brain signaling, with a focus on patients with functional dyspepsia and irritable bowel syndrome. Many patients suffering from disorders of gut-brain interactions exhibit these mechanism(s) but which ones and which specific properties may vary widely from patient to patient. Thus, in addition to identifying these mechanisms and the need for further studies, biomarkers and novel therapeutic targets are identified that could enable enriched patient groups to be studied in future clinical trials examining the role of food in the generation of gut and non-gut symptoms.

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“…After consuming a lactose-free diet for 1 month, patients with IBS and lactose intolerance experienced a decrease from baseline in both IBS and lactose malabsorption symptom severity scale scores [ 28 ]. Sucrase-isomaltase (SI) deficiency also can cause symptoms of abdominal pain, bloating, and diarrhea [ 29 ], and SI gene variants have been associated with IBS in some patients [ 43 , 44 ]. However, the prevalence of SI deficiency in IBS has not been determined [ 29 ].…”

Section: Comorbid Disorders: Testing To Exclude Ibsmentioning

confidence: 99%

A Narrative Review of Irritable Bowel Syndrome with Diarrhea: A Primer for Primary Care Providers

2022

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Irritable bowel syndrome with diarrhea (IBS-D) is a chronic disorder of gut-brain interaction, characterized by recurrent abdominal pain in association with more frequent, loose stools. The pathophysiology of irritable bowel syndrome (IBS) includes disordered gut motility, alterations in gut microbiota, neural-hormonal system abnormalities, immune reactivity, and visceral hypersensitivity. Timely diagnosis of IBS-D can be achieved easily using clinical criteria. Formal IBS diagnosis is important for optimizing treatment and patient outcomes and facilitating patient access to appropriate educational resources. Yet, given the symptom overlap with other gastrointestinal conditions, diagnosis of IBS-D often is perceived to be challenging. Treatment of IBS includes both nonpharmacologic and pharmacologic options. Rifaximin, alosetron, and eluxadoline are effective treatments indicated for IBS-D, but have limited availability internationally. Dietary approaches may also be indicated for certain patients with IBS-D. Psychological interventions may be effective in treating abdominal pain alone and global symptoms in IBS. We describe use of these diverse therapies and provide an overview to facilitate the primary care provider's approach to distinguishing IBS-D from other conditions with symptom overlap.

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Adult sucrase-isomaltase deficiency masquerading as IBS

Cited by 16 publications

References 8 publications

Diet and irritable bowel syndrome: an update from a UK consensus meeting

Diet and irritable bowel syndrome: an update from a UK consensus meeting

Mechanisms Underlying Food-Triggered Symptoms in Disorders of Gut-Brain Interactions

A Narrative Review of Irritable Bowel Syndrome with Diarrhea: A Primer for Primary Care Providers

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