EASL Campus

This EASL Quiz was developed in collaboration with ERN RARE-Liver

A 29-year-old man is referred because of persistently abnormal liver tests found during evaluation for fatigue. He has a BMI of 29 kg/m² and ultrasound shows mild hepatic steatosis. ALT is 112 U/L, AST 86 U/L, alkaline phosphatase and bilirubin are normal. IgG is mildly elevated and ANA is positive at low titre. Viral hepatitis tests are negative.
Further testing shows serum ceruloplasmin of 0.18 g/L. Basal 24-hour urinary copper excretion is 72 µg/24 h. Slit-lamp examination does not show Kayser-Fleischer rings. ATP7B sequencing identifies one clearly pathogenic variant and one variant of uncertain significance. Relative exchangeable copper is elevated.

Which is the most appropriate interpretation and next step?

A. Wilson disease is excluded because Kayser-Fleischer rings are absent and urinary copper excretion is only modestly elevated.

B. The findings are best explained by metabolic dysfunction-associated steatotic liver disease, and no further Wilson disease evaluation is needed.

C. Wilson disease remains a relevant differential diagnosis; the results should be integrated using the Leipzig score, and ATP7B variant interpretation should be completed, with consideration of hepatic copper quantification if diagnostic uncertainty remains.

D. The positive ANA and elevated IgG establish autoimmune hepatitis, and corticosteroid treatment should be started without further copper metabolism assessment.

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