Lactose Malabsorption Testing in Daily Clinical Practice: A Critical Retrospective Analysis and Comparison of the Hydrogen/Methane Breath Test and Genetic Test (C/T-13910 Polymorphism) Results. (16th April 2014)

• Record Type: Journal Article
• Authors: Enko, Dietmar; Rezanka, Erwin; Stolba, Robert; Halwachs-Baumann, Gabriele
• Other Names: Whorwell Peter James Academic Editor.
• Is Part Of: Gastroenterology research and practice. Volume 2014(2014)
• Publication Date: 2014-04-16
• Subjects: Gastroenterology -- Periodicals; Digestive organs -- Diseases -- Periodicals; 616.33005
• DOI: 10.1155/2014/464382
• Languages: English
• ISSNs: 1687-6121

Abstract

Abstract : The aim of this study was to establish a retrospective evaluation and comparison of the hydrogen/methane (H2 /CH4 ) breath test and genetic test (C/T−13910 polymorphism) results in lactose malabsorption testing. In total 263 consecutive patients with suspected lactose malabsorption were included in this study. They underwent the H2 /CH4 breath test following the ingestion of 50 g lactose and were tested for the C/T−13910 polymorphism. In total 51 patients (19.4%) had a C/C−13910 genotype, indicating primary lactose malabsorption. Only 19 patients (7.2%) also had a positive H2 /CH4 breath test. All in all 136 patients (51.69%) had a C/T−13910 and 76 patients (28.91%) a T/T−13910 genotype, indicating lactase persistence. Four patients (1.5%) with the C/T−13910 genotype and one patient (0.4%) with the T/T−13910 genotype had a positive H2 /CH4 breath test result, indicating secondary lactose malabsorption. Cohen's Kappa measuring agreement between the two methods was 0.44. Twenty patients (7.6%) with a positive H2 /CH4 peak within 60 minutes after lactose ingestion were classified as patients with lactose-dependent small intestinal bacterial overgrowth (SIBO). In conclusion, only moderate agreement between the breath test and the genetic test was shown. Secondary lactose malabsorption as well as preanalytical limitations of the combined H2 /CH4 breath test procedure can cause discrepant results. This trial is registered with K-42-13.