Lactose malabsorption and intolerance: pathogenesis, diagnosis and treatment

United European Gastroenterology Journal

Volumn 1, Issue 3, 2013, Pages 151-159

  Misselwitz, Benjamin ^a   Pohl, Daniel ^a   Frühauf, Heiko ^b   Fried, Michael ^a   Vavricka, Stephan R ^b   Fox, Mark ^c  

^a UNIVERSITY HOSPITAL ZURICH   (Switzerland)

^b TRIEMLI HOSPITAL   (Switzerland)

^c NOTTINGHAM UNIVERSITY HOSPITALS NHS TRUST   (United Kingdom)

Author keywords

Blinded testing; FODMAP; Genetic test; Hydrogen breath test; Irritable bowel syndrome; Lactase deficiency; Lactose intolerance; Lactose malabsorption; Lactose maldigestion; Multiple dose testing

Indexed keywords

LACTASE;

ALGORITHM; ARTICLE; DAIRY PRODUCT; ENZYME ACTIVITY; GENETIC POLYMORPHISM; GENOTYPE; HUMAN; HYDROGEN BREATH TEST; LACTOSE INTOLERANCE; NUTRITIONAL INTOLERANCE; PATHOGENESIS; PREVALENCE; PRIORITY JOURNAL; RANDOMIZED CONTROLLED TRIAL (TOPIC); RISK FACTOR;

EID: 85006193538     PISSN: 20506406     EISSN: 20506414     Source Type: Journal    
DOI: 10.1177/2050640613484463     Document Type: Article

References (58)

1. Brannon PM, Carpenter TO, Fernandez JR, et al. NIH consensus development conference statement: lactose intolerance and health. NIH Consens State Sci Statements 2010; 27: 1–27. PMID: 20186234.
2. Gasbarrini A, Corazza GR, Gasbarrini G, et al. Methodology and indications of H2-breath testing in gastrointestinal diseases: the Rome Consensus Conference. Aliment Pharmacol Ther 2009; 29(Suppl 1): 1–49.
3. Ingram CJ, Mulcare CA, Itan Y, et al. Lactose digestion and the evolutionary genetics of lactase persistence. Hum Genet 2009; 124: 579–591.
4. Scrimshaw NS and Murray EB. The acceptability of milk and milk products in populations with a high prevalence of lactose intolerance. Am J Clin Nutr 1988; 48: 1079–1159.
5. Itan Y, Jones BL, Ingram CJ, et al. A worldwide correlation of lactase persistence phenotype and genotypes. BMC Evol Biol 2010; 10: 36.
6. Enattah NS, Sahi T, Savilahti E, et al. Identification of a variant associated with adult-type hypolactasia. Nat Genet 2002; 30: 233–237.
7. Tishkoff SA, Reed FA, Ranciaro A, et al. Convergent adaptation of human lactase persistence in Africa and Europe. Nat Genet 2007; 39: 31–40.
8. Imtiaz F, Savilahti E, Sarnesto A, et al. The T/G 13915 variant upstream of the lactase gene (LCT) is the founder allele of lactase persistence in an urban Saudi population. J Med Genet 2007; 44: e89.
9. Bersaglieri T, Sabeti PC, Patterson N, et al. Genetic signatures of strong recent positive selection at the lactase gene. Am J Hum Genet 2004; 74: 1111–1120.
10. Coelho M, Luiselli D, Bertorelle G, et al. Microsatellite variation and evolution of human lactase persistence. Hum Genet 2005; 117: 329–339.
11. Lewinsky RH, Jensen TG, Moller J, et al. T–13910 DNA variant associated with lactase persistence interacts with Oct-1 and stimulates lactase promoter activity in vitro. Hum Mol Genet 2005; 14: 3945–3953.
12. Olds LC, Ahn JK and Sibley E. 13915*G DNA polymorphism associated with lactase persistence in Africa interacts with Oct-1. Hum Genet 2011; 129: 111–113.
13. Jensen TG, Liebert A, Lewinsky R, et al. The -14010*C variant associated with lactase persistence is located between an Oct-1 and HNF1alpha binding site and increases lactase promoter activity. Hum Genet 2011; 130: 483–493.
14. Enattah NS, Kuokkanen M, Forsblom C, et al. Correlation of intestinal disaccharidase activities with the C/T–13910 variant and age. World J Gastroenterol 2007; 13: 3508–3512.
15. Matthews SB, Waud JP, Roberts AG, et al. Systemic lactose intolerance: a new perspective on an old problem. Postgrad Med J 2005; 81: 167–173.
16. Zhao J, Fox M, Cong Y, et al. Lactose intolerance in patients with chronic functional diarrhoea: the role of small intestinal bacterial overgrowth. Aliment Pharmacol Ther 2010; 31: 892–900.
17. Tomba C, Baldassarri A, Coletta M, et al. Is the subjective perception of lactose intolerance influenced by the psychological profile? Aliment Pharmacol Ther 2012; 36: 660–669.
18. Jellema P, Schellevis FG, van der Windt DA, et al. Lactose malabsorption and intolerance: a systematic review on the diagnostic value of gastrointestinal symptoms and self-reported milk intolerance. QJM 2010; 103: 555–572.
19. Newcomer AD, McGill DB, Thomas PJ, et al. Prospective comparison of indirect methods for detecting lactase deficiency. N Engl J Med 1975; 293: 1232–1236.
20. Metz G, Jenkins DJ, Peters TJ, et al. Breath hydrogen as a diagnostic method for hypolactasia. Lancet 1975; 1: 1155–1157.
21. Maiuri L, Raia V, Potter J, et al. Mosaic pattern of lactase expression by villous enterocytes in human adulttype hypolactasia. Gastroenterology 1991; 100: 359–369.
22. Furnari M, Bonfanti D, Parodi A, et al. A comparison between lactose breath test and quick test on duodenal biopsies for diagnosing lactase deficiency in patients with self-reported lactose intolerance. J Clin Gastroenterol 2012; 47: 148–152.
23. Hogenauer C, Hammer HF, Mellitzer K, et al. Evaluation of a new DNA test compared with the lactose hydrogen breath test for the diagnosis of lactase nonpersistence. Eur J Gastroenterol Hepatol 2005; 17: 371–376.
24. Krawczyk M, Wolska M, Schwartz S, et al. Concordance of genetic and breath tests for lactose intolerance in a tertiary referral centre. J Gastrointestin Liver Dis 2008; 17: 135–139.
25. Arola H. Diagnosis of hypolactasia and lactose malabsorption. Scand J Gastroenterol Suppl 1994; 202: 26–35.
26. Nucera G, Gabrielli M, Lupascu A, et al. Abnormal breath tests to lactose, fructose and sorbitol in irritable bowel syndrome may be explained by small intestinal bacterial overgrowth. Aliment Pharmacol Ther 2005; 21: 1391–1395.
27. Hertzler SR and Savaiano DA. Colonic adaptation to daily lactose feeding in lactose maldigesters reduces lactose intolerance. Am J Clin Nutr 1996; 64: 232–236.
28. Szilagyi A, Cohen A, Vinokuroff C, et al. Deadaption and readaptation with lactose, but no cross-adaptation to lactulose: a case of occult colonic bacterial adaptation. Can J Gastroenterol 2004; 18: 677–680.
29. Pohl D, Savarino E, Hersberger M, et al. Excellent agreement between genetic and hydrogen breath tests for lactase deficiency and the role of extended symptom assessment. Br J Nutr 2010; 104: 900–907.
30. Young E, Stoneham MD, Petruckevitch A, et al. A population study of food intolerance. Lancet 1994; 343: 1127–1130.
31. Locke GR 3rd, Zinsmeister AR, Talley NJ, et al. Risk factors for irritable bowel syndrome: role of analgesics and food sensitivities. Am J Gastroenterol 2000; 95: 157–165.
32. Gelincik A, Buyukozturk S, Gul H, et al. Confirmed prevalence of food allergy and non-allergic food hypersensitivity in a Mediterranean population. Clin Exp Allergy 2008; 38: 1333–1341.
33. Teufel M, Biedermann T, Rapps N, et al. Psychological burden of food allergy. World J Gastroenterol 2007; 13: 3456–3465.
34. Yang J, Deng Y, Chu H, et al. Prevalence, presentation and effects on intake of dairy products of lactose intolerance in healthy subjects and patients with irritable bowel syndrome. J Clin Gastroenterol Hepatol 2013; 11: 262–268.
35. Bayless TM, Rothfeld B, Massa C, et al. Lactose and milk intolerance: clinical implications. N Engl J Med 1975; 292: 1156–1159.
36. Suarez FL, Savaiano DA and Levitt MD. A comparison of symptoms after the consumption of milk or lactosehydrolyzed milk by people with self-reported severe lactose intolerance. N Engl J Med 1995; 333: 1–4.
37. Asero R, Fernandez-Rivas M, Knulst AC, et al. Doubleblind, placebo-controlled food challenge in adults in everyday clinical practice: a reappraisal of their limitations and real indications. Curr Opin Allergy Clin Immunol 2009; 9: 379–385.
38. Beyerlein L, Pohl D, Delco F, et al. Correlation between symptoms developed after the oral ingestion of 50 g lactose and results of hydrogen breath testing for lactose intolerance. Aliment Pharmacol Ther 2008; 27: 659–665.
39. Hermans MM, Brummer RJ, Ruijgers AM, et al. The relationship between lactose tolerance test results and symptoms of lactose intolerance. Am J Gastroenterol 1997; 92: 981–984.
40. Savaiano DA, Boushey CJ and McCabe GP. Lactose intolerance symptoms assessed by meta-analysis: a grain of truth that leads to exaggeration. J Nutr 2006; 136: 1107–1113.
41. Shaukat A, Levitt MD, Taylor BC, et al. Systematic review: effective management strategies for lactose intolerance. Ann Intern Med 2010; 152: 797–803. 158 United European Gastroenterology Journal 1(3)
42. Montalto M, Gallo A, Santoro L, et al. Low-dose lactose in drugs neither increases breath hydrogen excretion nor causes gastrointestinal symptoms. Aliment Pharmacol Ther 2008; 28: 1003–1012.
43. Bohmer CJ and Tuynman HA. The effect of a lactoserestricted diet in patients with a positive lactose tolerance test, earlier diagnosed as irritable bowel syndrome: a 5-year follow-up study. Eur J Gastroenterol Hepatol 2001; 13: 941–944.
44. Vernia P, Ricciardi MR, Frandina C, et al. Lactose malabsorption and irritable bowel syndrome. Effect of a long-term lactose-free diet. Ital J Gastroenterol 1995; 27: 117–121.
45. Parker TJ, Woolner JT, Prevost AT, et al. Irritable bowel syndrome: is the search for lactose intolerance justified? Eur J Gastroenterol Hepatol 2001; 13: 219–225.
46. Lisker R, Solomons NW, Perez Briceno R, et al. Lactase and placebo in the management of the irritable bowel syndrome: a double-blind, cross-over study. Am J Gastroenterol 1989; 84: 756–762.
47. Gibson PR and Shepherd SJ. Personal view: food for thought–western lifestyle and susceptibility to Crohn’s disease. The FODMAP hypothesis. Aliment Pharmacol Ther 2005; 21: 1399–1409.
48. Staudacher HM, Whelan K, Irving PM, et al. Comparison of symptom response following advice for a diet low in fermentable carbohydrates (FODMAPs) versus standard dietary advice in patients with irritable bowel syndrome. J Hum Nutr Diet 2011; 24: 487–495.
49. Ramirez FC, Lee K and Graham DY. All lactase preparations are not the same: results of a prospective, randomized, placebo-controlled trial. Am J Gastroenterol 1994; 89: 566–570.
50. Almeida CC, Lorena SL, Pavan CR, et al. Beneficial effects of long-term consumption of a probiotic combination of Lactobacillus casei Shirota and Bifidobacterium breve Yakult may persist after suspension of therapy in lactose-intolerant patients. Nutr Clin Pract 2012; 27: 247–251.
51. Wilt TJ, Shaukat A, Shamliyan T, et al. Lactose intolerance and health. Evid Rep Technol Assess (Full Rep) 2010; 192: 1–410.
52. Food and Nutrition Information Center. Dietary reference intakes. Beltsville, MD: USDA. Available at: http://fnic.nal.usda.gov/(consulted December 2012)
53. Nicklas TA, Qu H, Hughes SO, et al. Self-perceived lactose intolerance results in lower intakes of calcium and dairy foods and is associated with hypertension and diabetes in adults. Am J Clin Nutr 2011; 94: 191–198.
54. Kanis JA, Johansson H, Oden A, et al. A meta-analysis of milk intake and fracture risk: low utility for case finding. Osteoporos Int 2005; 16: 799–804.
55. Obermayer-Pietsch BM, Bonelli CM, Walter DE, et al. Genetic predisposition for adult lactose intolerance and relation to diet, bone density, and bone fractures. J Bone Miner Res 2004; 19: 42–47.
56. Enattah NS, Sulkava R, Halonen P, et al. Genetic variant of lactase-persistent C/T–13910 is associated with bone fractures in very old age. J Am Geriatr Soc 2005; 53: 79–82.
57. Agueda L, Urreizti R, Bustamante M, et al. Analysis of three functional polymorphisms in relation to osteoporosis phenotypes: replication in a Spanish cohort. Calcif Tissue Int 2010; 87: 14–24.
58. GastroNet for medical education and research in gastroenterology. Available at: http://www.gastro.net.au (accessed December 2012).