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A 32-year-old lean women has long standing vague symptoms of fatigue and right upper quadrant discomfort. Routine labs show slightly elevated transaminases and GGT. Ultrasound shows liver steatosis estimated at grade 2 (0-3 scale on ultrasound) despite being lean. Initial further work-up shows low serum ceruloplasmin levels (< 10 mg/dL) and increased 24h urinary copper excretion (260 micrograms).

Which of the following is true?

A. A diagnosis of Wilson’s disease can be established based on these findings.

B. A liver biopsy with dry weight liver copper quantification will in the end be required to make a final diagnosis.

C. An ophthalmologic exam and brain MRI are required for further diagnosis.

D. An ophthalmologic exam, brain MRI and at the same time genetic testing for ATP7B are required for further diagnosis.

E. Ceruloplasmin and urinary copper are inaccurate and relative exchangeable copper is a mandatory criterion for diagnosis.

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