The potential of volatile organic compounds to diagnose primary sclerosing cholangitis

Robert van Vorstenbosch, Kim van Munster, Georgios Stavropoulos, Danielle Pachen, Frederik-Jan van Schooten, Cyriel Ponsioen, Agnieszka Smolinska*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Abstract

Background & Aims: Primary sclerosing cholangitis (PSC) is a chronic cholestatic liver disease characterized by progressive inflammation and fibrosis of the bile ducts. PSC is a complex disease of largely unknown aetiology that is strongly associated with inflammatory bowel disease (IBD). Diagnosis, especially at an early stage, is difficult and to date there is no diagnostic biomarker. The present study aimed to assess the diagnostic potential of volatile organic compounds (VOCs) in exhaled breath to detect (early) PSC in an IBD population. Methods: Breath samples were obtained from 16 patients with PSC alone, 47 with PSC and IBD, and 53 with IBD alone during outpatient clinic visits. Breath sampling was performed using the ReCIVA breath sampler and subsequently analysed by gas chromatography mass spectrometry. Random forest modelling was performed to find discriminatory VOCs and create a predictive model that was tested using an independent test set. Results: The final model to discriminate patients with PSC, with or without IBD, from patients with IBD alone included twenty VOCs and achieved a sensitivity, specificity, and area under the receiver-operating curve on the test set of 77%, 83%, and 0.84 respectively. Three VOCs (isoprene, 2-octanone and undecane) together correlated significantly with the Amsterdam-Oxford score for PSC disease prognosis. A sensitivity analysis showed stable results across early-stage PSC, including in those with normal alkaline phosphatase levels, as well as further progressed PSC. Conclusion: The present study demonstrates that exhaled breath can distinguish PSC cases from IBD and has potential as a noninvasive clinical breath test for (early) PSC. (c) 2024 The Author(s). Published by Elsevier B.V. on behalf of European Association for the Study of the Liver (EASL). This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).
Original languageEnglish
Article number101103
Number of pages8
JournalJHEP Reports
Volume6
Issue number8
DOIs
Publication statusPublished - 1 Aug 2024

Keywords

  • volatile organic compounds
  • liver
  • IBD
  • biomarkers
  • PSC
  • exhaled breath
  • metabolomics
  • INFLAMMATORY-BOWEL-DISEASE
  • CROHNS-DISEASE
  • UPDATE
  • INDEX

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