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CASE DESCRIPTION
A 39-year-old woman was referred to the digestive and liver specialist after several weeks of her feeling tired, with complaints of abdominal pain, nausea, and vomiting, and with abnormal liver function tests. The patient was in good general health, with a body mass index of 21.2 kg/m2, no relevant medical history, and a normal physical examination. The stigmata of chronic liver disease were absent. The patient reported that she had been consuming 3 to 4 beers/day and was not taking any medication. An abdominal ultrasonography revealed hepatic steatosis. Blood and urine tests showed the following: aspartate transaminase, 95 U/L [reference interval (RI)3, 0-32 U/L]; alanine transaminase, 66 U/L (RI, 0-33 U/L); alkaline phosphatase, 180 U/L (RI, 35-105 U/L); y-glutamyl transferase, 1005 U/L (RI, 0-40 U/L); albumin, 34 g/L (RI, 35-52 g/L); total bilirubin, 0.8 mg/dL (13.7 mmol/L) [RI, 0.1-1.2 mg/dL (1.7-20.5 mmol/ L)]; direct bilirubin, 0.7 mg/dL (12.0 mmol/L) [RI, 0.0 - 0.3 mg/dL (0.00-5.1 mmol/L)]; total cholesterol, 546 mg/dL (14.1 mmol/L) [upper reference limit (URL), <200 mg/dL (<5.17mmol/L)]; triglycerides, 2183 mg/dL (24.7 mmol/L) [URL, <150 mg/dL (<1.69 mmol/L)]; ceruloplasmin, <3 mg/dL (RI, 16-45 mg/dL); serum copper, 63 g/dL (RI, 80-154 g/dL); and urine copper, 17 g/24 h (RI, 10-50 g/24 h). Laboratory tests for other causes of liver disease, such as viral hepatitis B and C, autoimmune hepatitis, celiac disease (endoscopic biopsy), hemochromatosis [transferrin saturation (%)], and a-1 antitrypsin deficiency (serum protein electrophoresis pattern), were negative. A hepatic biopsy was performed, and histological findings included grade 2 to 3 fibrosis and ductular proliferation, with glycogenated nuclei and cytoplasmic microvacuoles and macrovacuoles in hepatocytes. However, microsteatosis could not be confirmed. A quantitative hepatic copper determination revealed a concentration of >739 Hg/g tissue. Genetic testing for the ATP7B gene was performed, but no mutations were found.
PATIENT FOLLOW-UP
Based on her serum ceruloplasmin and liver copper concentrations, the patient was diagnosed with Wilson disease (WD).
The gastroenterologist recommended eating healthier meals and abstaining from alcohol and prescribed the patient zinc acetate treatment (50 mg, 3 times/day) in June 2015.
Further laboratory tests on the patient's samples revealed pancytopenia and very low concentrations of serum and urine copper (Table 1). In April 2017, the patient started showing certain symptoms typical of peripheral neuropathy: blurred vision...