Sucrase-Isomaltase Deficiency Causing Persistent Bloating and Diarrhea in an Adult Female

Chiruvella, Varsha; Cheema, Ayesha; Arshad, Hafiz Muhammad Sharjeel; Chan, Jacqueline T.; Yap, John Erikson L.

doi:10.7759/cureus.14349

Cited by 7 publications

(8 citation statements)

References 19 publications

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“…These results indicate that our patient has congenital SI deficiency (CSID), considered a rare autosomal recessive condition most commonly identified in infants with symptoms of diarrhoea, malabsorption and failure-to-thrive. While a few CSID cases have also been described in adults, 8 there is accumulating evidence that partial SI deficiency (possibly as in hypomorphic carriers) is associated with increased risk of IBS in the general population. Hence, a clinical continuum across sucrose and starch malabsorption may be envisaged, which spans a spectrum of functionally diverse DNA variations in the SI gene.…”

Section: Adult Sucrase-isomaltase Deficiency Masquerading As Ibsmentioning

confidence: 99%

Adult sucrase-isomaltase deficiency masquerading as IBS

Foley

Halmos

Husein³

et al. 2021

Gut

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Section: Adult Sucrase-isomaltase Deficiency Masquerading As Ibsmentioning

confidence: 99%

Adult sucrase-isomaltase deficiency masquerading as IBS

Foley

Halmos

Husein³

et al. 2021

Gut

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“…Additionally, the current Greenlandic diet, characterized by a high sucrose content, likely induces symptoms among HO-carriers. 2 , 18 , 19 Examining a broader timeframe, specifically the past 100 years, would be intriguing to evaluate the symptom burden during the transition from a predominantly traditional diet, where no symptoms are expected, to a Western diet. Unfortunately, medical records are only accessible from 1992.…”

Section: Discussionmentioning

confidence: 99%

Healthcare Burden in Greenland of Gastrointestinal Symptoms in Adults with Inherited Loss of Sucrase-Isomaltase Function

Andersen,

Hansen,

Jørgensen

et al. 2024

TACG

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Background Congenital sucrase isomaltase deficiency (CSID) is in general a very rare disease. However, 2–3% of the Greenlandic population are homozygous (HO) carriers of an Arctic-specific loss-of-function (LoF) variant in the sucrase-isomaltase (SI) encoding gene, causing CSID. The condition is characterized by gastrointestinal symptoms such as stomachache, diarrhea, and weight loss when consuming sucrose, the most common dietary sugar. However, the awareness of the condition in the population and the healthcare system seems to be limited, potentially leading to a higher healthcare burden. Hence, we aimed to investigate whether HO-carriers visit the healthcare system more with gastrointestinal symptoms compared to the control groups by using registry data. Methods We performed a case–control study identifying cases and controls using genotype information from the 1999–2001 and 2005–2010 Greenlandic health population cohorts. The cases were defined as HO LoF SI -carriers and controls were defined as non-carriers and were matched (1:1) on sex, age, place of residence, and European genetic admixture. We used electronic medical records to assess the number of electronic medical record contacts (EMRc) related to gastrointestinal symptoms and the number of gastrointestinal-related diagnostic procedures. Results A total of 80 HO-carriers and 80 non-carriers were included. The HO-carriers had 19% more EMRc related to gastrointestinal symptoms (IRR, 1.19, 95% CI [1.02;1.40], p=0.02) and had a 41% higher incidence of gastrointestinal related diagnostic procedures compared to controls (IRR, 1.41, 95% CI [1.05–1.92], p=0.02). Only one HO-carrier was aware of the condition according to the electronic medical records. Conclusion HO-carriers of the LoF SI- variant had both significantly more gastrointestinal-related EMRc and significantly more diagnostic procedures conducted due to gastrointestinal symptoms. Only one HO-carrier was aware of the condition. Given the high prevalence of HO-carriers in the Greenlandic population, we anticipate that diagnosing more patients with CSID and providing dietary advice could potentially reduce symptom burden and healthcare visits among HO-carriers.

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“…Indeed, recent investigations are providing evidence that sucrase-isomaltase deficiency is more prevalent and of greater clinical significance than previously suspected. 8 , 24 While the low FODMAP diet has not been linked to a specific mechanism (or at least to a specific carbohydrate digestion pathway), sucrose intolerance offers the opportunity to specifically target the ‘defect’ (possibly genetically determined in some individuals) via dietary restrictions. The restriction in sucrose and starch has been shown to be effective in preliminary studies of IBS patients, 8 – 10 even irrespective of genetics.…”

Section: Discussionmentioning

confidence: 99%

The effect of starch- and sucrose-reduced diet accompanied by nutritional and culinary recommendations on the symptoms of irritable bowel syndrome patients with diarrhoea

Gayoso

Garcia-Etxebarria

Arzallus

et al. 2023

Therap Adv Gastroenterol

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Background: Irritable bowel syndrome (IBS) is a common gastrointestinal condition which entails a high burden in the quality of life (QoL) of patients. Nutritional interventions have been proposed to alleviate symptoms, since still no effective treatments exist for IBS. Objectives: Our aim is to analyse the feasibility of the use of starch- and sucrose-reduced diet (SSRD). Design: In this study, we used a SSRD accompanied by nutritional and culinary recommendations to measure the effects in IBS patients with diarrhoea. Methods: In all, 34 participants completed a 4-week nutritional intervention based on SSRD. Symptoms, QoL and dietary habits were assessed by several questionnaires that were completed at the beginning, daily, after 2 weeks, at the end, and after 2 months. Results: 85.29% of the participants reached the primary endpoint [reduction of 50 points or more in IBS-symptom severity scale (SSS)], and 58.82% the secondary endpoint (reduction of 50% or more in IBS-SSS). The relief of symptoms and improvement of the QoL were significant after 2 weeks of intervention, at the end and after 2 months. Dietary habits were consistent with the diet and high adherence was achieved. Conclusions: SSRD and individualized nutritional and culinary guidance improved symptoms and QoL of IBS patients with diarrhoea, with a high adherence.

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Sucrase-Isomaltase Deficiency Causing Persistent Bloating and Diarrhea in an Adult Female

Cited by 7 publications

References 19 publications

Adult sucrase-isomaltase deficiency masquerading as IBS

Adult sucrase-isomaltase deficiency masquerading as IBS

Healthcare Burden in Greenland of Gastrointestinal Symptoms in Adults with Inherited Loss of Sucrase-Isomaltase Function

The effect of starch- and sucrose-reduced diet accompanied by nutritional and culinary recommendations on the symptoms of irritable bowel syndrome patients with diarrhoea

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