This EASL Quiz was developed in collaboration with ESPGHAN.

A 32-year-old man was referred for evaluation of elevated liver enzymes, hyperferritinaemia, and hepatic steatosis identified on ultrasound. His family history was notable for haemochromatosis in his father. Physical examination revealed overweight status (BMI 27.9 kg/m²) and vitiligo involving both hands and the forehead, but was otherwise unremarkable. The patient reported only occasional alcohol consumption.
Laboratory investigations showed an ALT level of 4.5 x ULN, AST 1.5 x ULN, GGT 2 x ULN, and serum ferritin 2x ULN. The CBC and platelet count were normal. Testing for hepatitis B and C viruses and an autoimmune liver disease work-up were negative. Triglyceride, total cholesterol, and LDL cholesterol levels were normal. Liver MRI showed no evidence of hepatic iron overload but demonstrated marked hepatic steatosis. Liver biopsy revealed preserved hepatic architecture, marked macrovesicular and medium-droplet steatosis without significant inflammation and no fibrosis. Hepatic copper concentration was 1.94 µmol/g dry tissue (normal <0.4 µmol/g). Genetic testing identified heterozygosity for the C282Y mutation in the HFE gene and two ATP7B variants, including one pathogenic variant and one variant of uncertain significance. 
The patient was subsequently referred to the Wilson disease reference centre for further evaluation: serum copper was low at 7.38 µmol/L (normal 12.7–22.2 µmol/L), as was serum coeruloplasmin at 13.9 mg/dL (normal 20–40 mg/dL). Twenty-four-hour urinary copper excretion was 0.38 µmol/24 h (normal <0.8 µmol/24 h), and the relative exchangeable copper (REC) was 8.67% (normal <8%).