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Excellent agreement between genetic and hydrogen breath tests for lactase deficiency and the role of extended symptom assessment

  • D. Pohl (a1) (a2), E. Savarino (a1) (a3), M. Hersberger (a4), Z. Behlis (a1), B. Stutz (a1), O. Goetze (a1), A. v. Eckardstein (a5), M. Fried (a1) and R. Tutuian (a1) (a6)...

Abstract

Clinical manifestations of lactase (LCT) deficiency include intestinal and extra-intestinal symptoms. Lactose hydrogen breath test (H2-BT) is considered the gold standard to evaluate LCT deficiency (LD). Recently, the single-nucleotide polymorphism C/T− 13 910 has been associated with LD. The objectives of the present study were to evaluate the agreement between genetic testing of LCT C/T− 13 910 and lactose H2-BT, and the diagnostic value of extended symptom assessment. Of the 201 patients included in the study, 194 (139 females; mean age 38, range 17–79 years, and 55 males, mean age 38, range 18–68 years) patients with clinical suspicion of LD underwent a 3–4 h H2-BT and genetic testing for LCT C/T− 13 910. Patients rated five intestinal and four extra-intestinal symptoms during the H2-BT and then at home for the following 48 h. Declaring H2-BT as the gold standard, the CC− 13 910 genotype had a sensitivity of 97 % and a specificity of 95 % with a κ of 0·9 in diagnosing LCT deficiency. Patients with LD had more intense intestinal symptoms 4 h following the lactose challenge included in the H2-BT. We found no difference in the intensity of extra-intestinal symptoms between patients with and without LD. Symptom assessment yielded differences for intestinal symptoms abdominal pain, bloating, borborygmi and diarrhoea between 120 min and 4 h after oral lactose challenge. Extra-intestinal symptoms (dizziness, headache and myalgia) and extension of symptom assessment up to 48 h did not consistently show different results. In conclusion, genetic testing has an excellent agreement with the standard lactose H2-BT, and it may replace breath testing for the diagnosis of LD. Extended symptom scores and assessment of extra-intestinal symptoms have limited diagnostic value in the evaluation of LD.

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Copyright

Corresponding author

*Corresponding author: Dr Daniel Pohl, fax +41 44 255 4591, email daniel.pohl@usz.ch

References

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1 Sahi, T (1994) Genetics and epidemiology of adult-type hypolactasia. Scand J Gastroenterol Suppl 202, 720.
2 Arola, H (1994) Diagnosis of hypolactasia and lactose malabsorption. Scand J Gastroenterol Suppl 202, 2635.
3 Launiala, K, Kuitunen, P & Visakorpi, JK (1966) Disaccharidases and histology of duodenal mucosa in congenital lactose malabsorption. Acta Paediatr Scand 55, 257263.
4 Enattah, NS, Sahi, T, Savilahti, E, et al. (2002) Identification of a variant associated with adult-type hypolactasia. Nat Genet 30, 233237.
5 Högenauer, C, Hammer, HF, Mellitzer, K, et al. (2005) Evaluation of a new DNA test compared with the lactose hydrogen breath test for the diagnosis of lactase non-persistence. Eur J Gastroenterol Hepatol 17, 371376.
6 Enattah, NS, Jensen, TG, Nielsen, M, et al. (2008) Independent introduction of two lactase-persistence alleles into human populations reflects different history of adaptation to milk culture. Am J Hum Genet 82, 5772.
7 Kirschner, BS, DeFavaro, MV & Jensen, W (1981) Lactose malabsorption in children and adolescents with inflammatory bowel disease. Gastroenterology 81, 829832.
8 Chaudhuri, A (2000) Lactose intolerance and neuromuscular symptoms. Lancet 356, 510511.
9 Matthews, SB & Campbell, AK (2000) When sugar is not so sweet. Lancet 355, 1330.
10 Matthews, SB, Waud, JP, Roberts, AG, et al. (2005) Systemic lactose intolerance: a new perspective on an old problem. Postgrad Med J 81, 167173.
11 Kerlin, P & Wong, L (1988) Breath hydrogen testing in bacterial overgrowth of the small intestine. Gastroenterology 95, 982988.
12 Stolba, R, Rezanka, E, Eckhard, U, et al. (2005) Genotyping of the LCT (T/C − 13910) polymorphism on the LightCycler using fluorescent hybridisation probes. Laboratoriums Medizin 29, 194197.
13 Krawczyk, M, Wolska, M, Schwartz, S, et al. (2008) Concordance of genetic and breath tests for lactose intolerance in a tertiary referral centre. J Gastrointestin Liver Dis 17, 135139.
14 Pimentel, M, Kong, Y & Park, S (2003) Breath testing to evaluate lactose intolerance in irritable bowel syndrome correlates with lactulose testing and may not reflect true lactose malabsorption. Am J Gastroenterol 98, 27002704.
15 Seppo, L, Tuure, T, Korpela, R, et al. (2008) Can primary hypolactasia manifest itself after the age of 20 years? A two-decade follow-up study. Scand J Gastroenterol 43, 10821087.
16 Tishkoff, SA, Reed, FA, Ranciaro, A, et al. (2007) Convergent adaptation of human lactase persistence in Africa and Europe. Nat Genet 39, 3140.
17 Weiskirchen, R, Tag, CG, Mengsteab, S, et al. (2007) Pitfalls in LightCycler diagnosis of the single-nucleotide polymorphism 13·9 kb upstream of the lactase gene that is associated with adult-type hypolactasia. Clin Chim Acta 384, 9398.
18 Savaiano, DA, Boushey, CJ & McCabe, GP (2006) Lactose intolerance symptoms assessed by meta-analysis: a grain of truth that leads to exaggeration. J Nutr 136, 11071113.
19 Nielsen, SJ & Popkin, BM (2003) Patterns and trends in food portion sizes, 1977–1998. JAMA 289, 450453.
20 Hertzler, SR & Savaiano, DA (1996) Colonic adaptation to daily lactose feeding in lactose maldigesters reduces lactose intolerance. Am J Clin Nutr 64, 232236.
21 Kuokkanen, M, Enattah, NS, Oksanen, A, et al. (2003) Transcriptional regulation of the lactase–phlorizin hydrolase gene by polymorphisms associated with adult-type hypolactasia. Gut 52, 647652.
22 Naim, HY & Naim, H (1996) Dimerization of lactase–phlorizin hydrolase occurs in the endoplasmic reticulum, involves the putative membrane spanning domain and is required for an efficient transport of the enzyme to the cell surface. Eur J Cell Biol 70, 198208.
23 Campbell, AK, Wann, KT & Matthews, SB (2004) Lactose causes heart arrhythmia in the water flea Daphnia pulex. Comp Biochem Physiol B Biochem Mol Biol 139, 225234.

Keywords

Excellent agreement between genetic and hydrogen breath tests for lactase deficiency and the role of extended symptom assessment

  • D. Pohl (a1) (a2), E. Savarino (a1) (a3), M. Hersberger (a4), Z. Behlis (a1), B. Stutz (a1), O. Goetze (a1), A. v. Eckardstein (a5), M. Fried (a1) and R. Tutuian (a1) (a6)...

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