The gold standard for the diagnosis of Wilson disease is:: (A) Liver biopsy with quantitative copper assay, (B) Serum ceruloplasmin along with free copper estimation, (C) 24 hour urine copper quantification, (D) Liver biopsy and copper staining
Answer is A. The gold standard for diagnosis is liver biopsy with quantitative copper assays. Affected patients have values > 200 mg/g dry weight of liver tissue. Copper stains are not reliable. Reference: Harrisons Principles of Internal Medicine, 18th Edition, Page 3188