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Positron Emission Tomography Using 64-Copper as a Tracer for the Study of Copper-Related Disorders
Published on: April 28, 2023
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Cholestatic liver disease masquerading as Wilson disease
Vikrant Sood1, Dinesh Rawat, Rajeev Khanna
1Department of Pediatric Hepatology, Institute of Liver and Biliary Sciences, D-1, Vasant Kunj, New Delhi, 110 070, India.
Summary
Sclerosing cholangitis can mimic Wilson disease, complicating diagnosis. Differentiating requires careful assessment of copper levels, as true Wilson disease shows distinct ceruloplasmin and urinary copper values.
Area of Science:
- Hepatology
- Internal Medicine
- Genetic Metabolic Disorders
Background:
- Wilson disease and cholestatic liver diseases present diagnostic challenges.
- Standard diagnostic criteria may be insufficient when copper overload markers are considered.
Purpose of the Study:
- To describe cases of sclerosing cholangitis mimicking Wilson disease.
- To identify key differentiating markers between true Wilson disease and its mimics.
Main Methods:
- Retrospective case series analysis.
- Comparison of serum ceruloplasmin and 24-hour urinary copper levels.
- Follow-up assessment of ceruloplasmin normalization in suspected cases.
Main Results:
- Four cases of sclerosing cholangitis mimicking Wilson disease were identified.
- True Wilson disease cases had lower ceruloplasmin (6 vs. 16 mg/dL) and higher urinary copper (322.3 vs. 74.5 μg/day) than mimickers.
- Initial low ceruloplasmin normalized in sclerosing cholangitis cases upon follow-up.
Conclusions:
- Sclerosing cholangitis can present as a Wilson disease mimicker.
- Monitoring ceruloplasmin normalization is a potential diagnostic indicator.
- Wilson disease diagnostic criteria may require modification, especially in resource-limited settings.
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