The contribution of plasma oxysterols in the challenging diagnostic work-up of infantile cholestasis
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Updated: Dec 22, 2025
Free Radicals in Chemical Biology: from Chemical Behavior to Biomarker Development
Published on: April 15, 2013
Andrea Pietrobattista1, Silvio Veraldi2, Manila Candusso1
1Division of Hepatology, Gastroenterology and Nutrition, Bambino Gesù Children Hospital and Research Institute, Rome, Italy.
Insights
Plasma oxysterols, including 7-ketocholesterol (7-KC) and cholestan-3β,5α,6β-triol (C-Triol), can aid in diagnosing infantile cholestasis (IC). These markers are particularly useful in identifying Niemann-Pick type C disease (NP-C).
Area of Science:
- Pediatric Gastroenterology
- Biochemistry
- Diagnostic Medicine
Background:
- Infantile cholestasis (IC) presents a diagnostic challenge due to a broad differential diagnosis.
- Impaired bile production or flow in infancy characterizes IC.
Purpose of the Study:
- To evaluate the utility of plasma oxysterols in the diagnostic work-up of infantile cholestasis.
- To assess the correlation of oxysterols with disease severity and specific etiologies.
Main Methods:
- Retrospective analysis of 91 infants with cholestasis from 2014-2019.
- Quantification of plasma 7-ketocholesterol (7-KC) and cholestan-3β,5α,6β-triol (C-Triol).
- Correlation analysis with clinical parameters and Receiver Operating Characteristic (ROC) analysis for Niemann-Pick type C (NP-C) prediction.
Main Results:
- Oxysterol concentrations were mildly elevated in IC infants compared to controls.
- 7-KC and C-Triol showed a linear relationship with each other and Spleen-Z score.
- Niemann-Pick type C (NP-C) patients exhibited the highest oxysterol levels; ROC analysis yielded AUCs of 1.0 for predicting NP-C.
Conclusions:
- Plasma oxysterols are a simple, reliable, and convenient diagnostic tool for infantile cholestasis.
- Oxysterol measurement should be integrated early in the diagnostic process for IC.
- Stepwise evaluation including detailed clinical and analytical assessments is crucial for IC diagnosis.
Background:
Infantile cholestasis (IC) is defined as an impairment of bile production or flow occurring in the first months of life. The diagnostic approach in IC is challenging since the differential diagnosis is broad.
Methods:
We retrospectively evaluated 91 cholestatic infants referred to our department from 2014 to 2019. Patients with cholestasis underwent a complete IC diagnostic work-up including quantification of plasma oxysterols 7-ketocholesterol (7-KC) and cholestan-3β,5α,6β-triol (C-Triol).
Results:
Oxysterols concentrations were mildly elevated in IC compared to control population. 7-KC and C-Triol plasma levels presented a linear relationship between them and with Spleen-Z score. Patients with NP-C showed the highest concentrations of both oxysterols compared with other etiologies of IC. Excluding NP-C patients, oxysterols concentrations were similar among all other etiological groups with no correlations found between them and the levels of cholesterol and bilirubin. ROC analysis identified AUCs of 1.0 for both oxysterols in predicting NP-C.
Conclusion:
Infants with IC should undergo a stepwise evaluation in which detailed clinical and deep analytical assessments are the main crossroads. Plasma oxysterols, a simple, reliable, and convenient diagnostic test should be included in the first steps of the diagnostic process in IC.
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