Pancytopenia and Peripheral Neuropathy in a Woman with Altered Liver Function Tests

Abstract

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); γ-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), 739 μg/g tissue. Genetic testing for the ATP7B 4 gene was performed, but no mutations were found. ### QUESTIONS TO CONSIDER 1. What are …