Advertisement

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

  • Su Bin Kim
  • Fernando H. Calmet
  • Jose Garrido
  • Monica T. Garcia-Buitrago
  • Baharak MoshireeEmail author
Original 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.

Keywords

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

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

Notes

Author's contribution

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.

Funding

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

Compliance with Ethical Standards

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.

References

  1. 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.CrossRefGoogle Scholar
  2. 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. 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.CrossRefGoogle Scholar
  4. 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.CrossRefGoogle Scholar
  5. 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.CrossRefGoogle Scholar
  6. 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.CrossRefGoogle Scholar
  7. 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.CrossRefGoogle Scholar
  8. 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.CrossRefGoogle Scholar
  9. 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.Google Scholar
  10. 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.Google Scholar
  11. 11.
    Treem WR. Congenital sucrase-isomaltase deficiency. J Pediatr Gastroenterol Nutr.. 1995;21:1–14.CrossRefGoogle Scholar
  12. 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.CrossRefGoogle Scholar
  13. 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.Google Scholar
  14. 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.CrossRefGoogle Scholar
  15. 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.CrossRefGoogle Scholar
  16. 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.CrossRefGoogle Scholar
  17. 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.CrossRefGoogle Scholar
  18. 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.CrossRefGoogle Scholar
  19. 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.CrossRefGoogle Scholar
  20. 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. 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.CrossRefGoogle Scholar
  22. 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.CrossRefGoogle Scholar
  23. 23.
    Horváth K, Horn G, Bodánszky H, Tóth K, Váradi S. Disaccharidases in coeliac disease. Acta Paediatr Hung.. 1983;24:131–136.Google Scholar
  24. 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.CrossRefGoogle Scholar
  25. 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.CrossRefGoogle Scholar
  26. 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.CrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2019

Authors and Affiliations

  • Su Bin Kim
    • 1
  • Fernando H. Calmet
    • 2
  • Jose Garrido
    • 3
  • Monica T. Garcia-Buitrago
    • 4
  • Baharak Moshiree
    • 5
    Email author
  1. 1.Department of GastroenterologyCleveland Clinic FloridaWestonUSA
  2. 2.Division of GastroenterologyNewton-Wellesley HospitalNewtonUSA
  3. 3.Department of GastroenterologyUniversity of Miami Miller School of MedicineMiamiUSA
  4. 4.Department of Pathology, Jackson Memorial Health SystemUniversity of Miami Miller School of MedicineMiamiUSA
  5. 5.Atrium HealthUniversity of North CarolinaCharlotteUSA

Personalised recommendations