Skip to main content

Sucrase-Isomaltase Deficiency as a Potential Masquerader in Irritable Bowel Syndrome

Digestive Diseases and Sciences volume 65, pages 534–540 (2020)Cite this article

Abstract

Background

Patients with irritable bowel syndrome (IBS) frequently have meal-related symptoms and can recognize specific trigger foods. Lactose intolerance is a well-established carbohydrate malabsorption syndrome that causes symptoms similar to IBS such as bloating, abdominal pain, and diarrhea. However, the prevalence of sucrase-isomaltase deficiency (SID) in this population is poorly defined. SID is a condition in which sucrase-isomaltase, an enzyme produced by brush border of small intestine to metabolize sucrose, is deficient. Just like lactase deficiency, SID causes symptoms of maldigestion syndromes including abdominal pain, bloating, gas, and diarrhea. In this study, we aim to determine the prevalence of SID in patients with presumed IBS-D/M and characterize its clinical presentation.

Methods

Patients with a presumed diagnosis of IBS-D/M based on symptoms of abdominal pain, diarrhea, and/or bloating who underwent esophagogastroduodenoscopy with duodenal biopsies and testing for disaccharidase deficiency were included. Patients with a history of inflammatory bowel disease, gastrointestinal malignancy, or celiac disease were excluded. Odds ratio was calculated for abdominal pain, diarrhea, and bloating in patients with versus without SID.

Results

A total of 31 patients with clinical suspicion for IBS-D/M were included with a median age of 46 years (IQR 30.5–60) and with 61% females. SID was present in 35% of patients. Among patients with SID, 63.6% had diarrhea, 45.4% had abdominal pain, and 36.4% had bloating. Patients with SID were less likely than controls to have abdominal pain (OR 0.16, 95% CI 0.03–0.81, p = 0.04) although no difference in diarrhea or bloating was found. Only two patients with SID underwent sucrose breath testing of which only one had a positive result. However, this patient also had a positive glucose breath test and may have had small intestinal bacterial overgrowth as a confounder.

Conclusion

SID was found in 35% of patients with presumed IBS-D/M and should be considered in the differential diagnosis of patients presenting with abdominal pain, diarrhea, or bloating. Further studies should better characterize the clinical features of SID and investigate the effects of dietary modification in this group of patients.

This is a preview of subscription content, access via your institution.

Access options

Buy single article

Instant access to the full article PDF.

USD 39.95

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Fig. 1
Fig. 2
Fig. 3

Abbreviations

CSID:

Congenital sucrase-isomaltase deficiency

EGD:

Esophagogastroduodenoscopy

FODMAP:

Fermentable oligosaccharides, disaccharides, monosaccharides, and polyols

IBS:

Irritable bowel syndrome

IBS C:

Irritable bowel syndrome—constipation predominant

IBS D:

Irritable bowel syndrome—diarrhea predominant

IBS M:

Irritable bowel syndrome—mixed bowel habits

SBT:

Sucrase breath testing

SI:

Sucrase-isomaltase

SID:

Sucrase-isomaltase deficiency

References

  1. Card T, Canavan C, West J. The epidemiology of irritable bowel syndrome. Clin Epidemiol.. 2014;6:71. https://doi.org/10.2147/CLEP.S40245.

    Article  PubMed  PubMed Central  Google Scholar 

  2. Hurtado CW, Waasdorp CF. Carbohydrate Digestion and Absorption NASPGHAN Physiology Series. https://www.naspghan.org/files/documents/pdfs/training/curriculum-resources/physiology-series/Carbohydrate_digestion_NASPGHAN.pdf. Accessed November 19, 2018.

  3. Xu H, Collins JF, Ghishan FK. Molecular physiology of gastrointestinal function during development. In: Said Hamid M, ed. Physiology of the Gastrointestinal Tract. Amsterdam: Elsevier; 2012:415–449. https://doi.org/10.1016/b978-0-12-382026-6.00014-2.

    Chapter  Google Scholar 

  4. Uhrich S, Wu Z, Huang JY, Scott CR. Four mutations in the SI gene are responsible for the majority of clinical symptoms of CSID. J Pediatr Gastroenterol Nutr.. 2012;55:34–35. https://doi.org/10.1097/01.mpg.0000421408.65257.b5.

    Article  Google Scholar 

  5. Naim HY, Heine M, Zimmer K-P. Congenital sucrase-isomaltase deficiency: Heterogeneity of inheritance, trafficking, and function of an intestinal enzyme complex. J Pediatr Gastroenterol Nutr.. 2012;55:S13–20. https://doi.org/10.1097/01.mpg.0000421402.57633.4b.

    Article  PubMed  Google Scholar 

  6. Chumpitazi BP, Robayo-Torres CC, Opekun AR, Nichols BL, Naim HY. Congenital sucrase-isomaltase deficiency: summary of an evaluation in one family. J Pediatr Gastroenterol Nutr.. 2012;55:S36. https://doi.org/10.1097/01.mpg.0000421409.65257.fc.

    Article  PubMed  PubMed Central  Google Scholar 

  7. Cohen SA. The clinical consequences of sucrase-isomaltase deficiency. Mol Cell Pediatr.. 2016;3:5. https://doi.org/10.1186/s40348-015-0028-0.

    Article  PubMed  PubMed Central  Google Scholar 

  8. Treem WR, McAdams L, Stanford L, Kastoff G, Justinich C, Hyams J. Sacrosidase therapy for congenital sucrase-isomaltase deficiency. J Pediatr Gastroenterol Nutr.. 1999;28:137–142. https://doi.org/10.1097/00005176-199902000-00008.

    Article  CAS  PubMed  Google Scholar 

  9. Henström M, Diekmann L, Bonfiglio F, et al. Functional variants in the sucrase-isomaltase gene associate with increased risk of irritable bowel syndrome. Gut. 2018;. https://doi.org/10.1136/gutjnl-2016-312456.

    Article  PubMed  Google Scholar 

  10. Garcia-Etxebarria K, Zheng T, Bonfiglio F, et al. Increased Prevalence of rare sucrase-isomaltase (SI) pathogenic variants in irritable bowel syndrome patients. Clin Gastroenterol Hepatol.. 2018;. https://doi.org/10.1016/j.cgh.2018.01.047.

    Article  PubMed  PubMed Central  Google Scholar 

  11. Treem WR. Congenital sucrase-isomaltase deficiency. J Pediatr Gastroenterol Nutr.. 1995;21:1–14.

    Article  CAS  Google Scholar 

  12. Treem WR. Clinical aspects and treatment of congenital sucrase-isomaltase deficiency. J Pediatr Gastroenterol Nutr.. 2012;55:S7–13. https://doi.org/10.1097/01.mpg.0000421401.57633.90.

    Article  PubMed  Google Scholar 

  13. Brandt LJ, Chey WD, Foxx-Orenstein AE, et al. An evidence-based position statement on the management of irritable bowel syndrome. Am J Gastroenterol.. 2008;104:S1–S35. https://doi.org/10.1038/ajg.2008.122.

    Article  Google Scholar 

  14. He Z, Bolling L, Tonb D, Nadal T, Mehta DI. An automated method for the determination of intestinal disaccharidase and glucoamylase activities. J Autom Methods Manag Chem.. 2006;2006:1–4. https://doi.org/10.1155/JAMMC/2006/93947.

    Article  CAS  Google Scholar 

  15. Rezaie A, Buresi M, Lembo A, et al. Hydrogen and methane-based breath testing in gastrointestinal disorders: The North American Consensus. Am J Gastroenterol.. 2017;112:775–784. https://doi.org/10.1038/ajg.2017.46.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  16. DeJonge AM, Norris KS, Hernandez K, Elser H, Opekun AR. Mo1971 sucrase-isomaltase genetic variant carriers can be symptomatic. Gastroenterology.. 2014;146:S-705. https://doi.org/10.1016/s0016-5085(14)62560-9.

    Article  Google Scholar 

  17. Puntis JWL, Zamvar V. Congenital sucrase–isomaltase deficiency: Diagnostic challenges and response to enzyme replacement therapy. Arch Dis Child.. 2015;100:869–871. https://doi.org/10.1136/archdischild-2015-308388.

    Article  CAS  PubMed  Google Scholar 

  18. Taylor C, Hodgson K, Sharpstone D, et al. The prevalence and severity of intestinal disaccharidase deficiency in human immunodeficiency virus-infected subjects. Scand J Gastroenterol.. 2000;35:599–606.

    Article  CAS  Google Scholar 

  19. Nichols BL, Adams B, Roach CM, Ma C-X, Baker SS. Frequency of sucrase deficiency in mucosal biopsies. J Pediatr Gastroenterol Nutr.. 2012;55:S28–S30. https://doi.org/10.1097/01.mpg.0000421405.42386.64.

    Article  PubMed  Google Scholar 

  20. Cohen SA, Oloyede H. Variable use of disaccharidase assays when evaluating abdominal pain. Gastroenterol Hepatol (N Y).. 2018;14:26–32.

    Google Scholar 

  21. Shulman RJ, Langston C, Lifschitz CH. Histologic findings are not correlated with disaccharidase activities in infants with protracted diarrhea. J Pediatr Gastroenterol Nutr.. 1991;12:70–75.

    Article  CAS  Google Scholar 

  22. Welsh JD, Poley JR, Hensley J, Bhatia M. Intestinal disaccharidase and alkaline phosphatase activity in giardiasis. J Pediatr Gastroenterol Nutr.. 1984;3:37–40.

    Article  CAS  Google Scholar 

  23. Horváth K, Horn G, Bodánszky H, Tóth K, Váradi S. Disaccharidases in coeliac disease. Acta Paediatr Hung.. 1983;24:131–136.

    PubMed  Google Scholar 

  24. Harrison M, Walker-Smith JA. Reinvestigation of lactose intolerant children: lack of correlation between continuing lactose intolerance and small intestinal morphology, disaccharidase activity, and lactose tolerance tests. Gut.. 1977;18:48–52.

    Article  CAS  Google Scholar 

  25. Daileda T, Baek P, Sutter ME, Thakkar K. Disaccharidase activity in children undergoing esophagogastroduodenoscopy: A systematic review. World J Gastrointest Pharmacol Ther.. 2016;7:283–293. https://doi.org/10.4292/wjgpt.v7.i2.283.

    Article  PubMed  PubMed Central  Google Scholar 

  26. Mones RL, Yankah A, Duelfer D, Bustami R, Mercer G. Disaccharidase deficiency in pediatric patients with celiac disease and intact villi. Scand J Gastroenterol.. 2011;46:1429–1434. https://doi.org/10.3109/00365521.2011.619276.

    Article  CAS  PubMed  Google Scholar 

Download references

Funding

Dr. Moshiree has disclosed she received grant funding from QOL Medical, this study was unfunded and investigator initiated.

Author information

Authors and Affiliations

  1. Department of Gastroenterology, Cleveland Clinic Florida, 2950 Cleveland Clinic Blvd, Weston, FL, 33331, USA

    Su Bin Kim

  2. Division of Gastroenterology, Newton-Wellesley Hospital, 2000 Washington St, Suite 368, Newton, MA, 02462, USA

    Fernando H. Calmet

  3. Department of Gastroenterology, University of Miami Miller School of Medicine, 1295 Northwest 14th Street, Miami, FL, 33125, USA

    Jose Garrido

  4. Department of Pathology, Jackson Memorial Health System, University of Miami Miller School of Medicine, 1611 NW 12th Ave, Miami, FL, 33136, USA

    Monica T. Garcia-Buitrago

  5. Atrium Health, University of North Carolina, 1025 Morehead Medical Dr. Suite 300, Charlotte, NC, 28204, USA

    Baharak Moshiree

Authors
  1. Su Bin Kim
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Fernando H. Calmet
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Jose Garrido
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Monica T. Garcia-Buitrago
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Baharak Moshiree
    View author publications

    You can also search for this author in PubMed Google Scholar

Contributions

SK was involved in writing of manuscript, editing, design of study, and graphs/tables. FC performed statistical data analysis and proofreading manuscript. JG helped with study design, editing, and patient recruitment. MG contributed to pathology review and provided slides. BM performed study design and writing, manuscript editing, patient recruitment, and proofreading.

Corresponding author

Correspondence to Baharak Moshiree.

Ethics declarations

Ethical statement

I testify on behalf of all the co-authors that our article submitted to Digestive Diseases and Sciences above has not previously been published in whole or in part elsewhere and that it is not being considered for publication in another journal. All others have been personally and actively involved in the substantive work leading to the manuscript and will hold themselves jointly and individually responsible for its content.

Conflict of Interest

None.

Additional information

Publisher's Note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Rights and permissions

Reprints and Permissions

About this article

Verify currency and authenticity via CrossMark

Cite this article

Kim, S.B., Calmet, F.H., Garrido, J. et al. Sucrase-Isomaltase Deficiency as a Potential Masquerader in Irritable Bowel Syndrome. Dig Dis Sci 65, 534–540 (2020). https://doi.org/10.1007/s10620-019-05780-7

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10620-019-05780-7

Keywords

  • Irritable bowel syndrome
  • Diarrhea
  • Bloating
  • Sucrase-isomaltase deficiency
  • Abdominal pain
  • Carbohydrate malabsorption