Abstract
Introduction
Diagnosing lactose malabsorption is usually based on hydrogen excretion in breath after a lactose challenge. However, a proportion of subjects with lactose malabsorption will not present a rise in hydrogen. Measuring excretion of methane or stable isotope labeled 13CO2 after ingestion of 13C-lactose has been proposed to mitigate this problem.
Objective
The aim of the study was to assess the performance of measuring methane and 13CO2 in individuals with normal hydrogen excretion compared to a genetic lactase non-persistence test.
Methods
Individuals referred for lactose breath testing and healthy controls were included. Participants received 13C-enriched lactose, performed breath testing, and underwent genotyping for a marker of lactase non-persistence (13910C*T). Using genotype as gold standard, the performance of measuring methane and 13CO2 excretion was assessed.
Results
151 subjects participated in the study, 50 of which presented a lactase non-persistent genotype. Of these, 72% were correctly diagnosed through hydrogen excretion of ≥ 20 ppm above baseline. In subjects with normal hydrogen excretion, cumulative 13C excretion had an area under the curve (AUC) of the receiver operating characteristics (ROC) curve of 0.852. Sensitivity was 93% and specificity was 51% for the current cutoff of 14.5%. The optimal cutoff was 12.65% (sensitivity 93%, specificity 70%). The ROC curve of peak methane had an AUC of 0.542 (sensitivity of 14%, specificity of 91% for cutoff ≥ 10 ppm).
Conclusions
In individuals with genetically demonstrated lactase non-persistence and negative hydrogen breath test, the use of 13C-lactose with measurement of 13CO2 excretion and hydrogen is a well-performing test to detect the lactose malabsorption and performs better than methane in our cohort.
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Acknowledgments
The authors wish to thank Geert Verbeke and Steffen Fieuws for statistical assistance and Anniek Corveleyn Bruno Vankeirsbilck, Nicole Gorris, Christine Dewit, and Helga Ceulemans en Nicole Pieters for technical assistance.
Funding
LMB received funding from a Postdoc.Mobility grant from the Swiss National Science foundation (P500PM_206612). TV is supported by a senior clinical research mandate of the Flanders Research Foundation (FWO Vlaanderen). JT received funding through a Methusalem grant from the KU Leuven.
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Balsiger, L.M., Houben, E., Vanuytsel, T. et al. Added Value of 13C Analysis in Breath Tests in H2-Negative Subjects to Diagnose Lactose Malabsorption: A Proof of Concept Study. Dig Dis Sci (2024). https://doi.org/10.1007/s10620-024-08304-0
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DOI: https://doi.org/10.1007/s10620-024-08304-0