Abstract Wilson disease (WD) is an autosomal recessive disorder of hepatic copper metabolism with varied clinical presentations. We describe a 15‐year‐old male referred for elevated aminotransferases, burning facial pruritis, scalp dysesthesias, and chronic bilateral lower extremity edema. Initial workup showed low‐normal ceruloplasmin, hypergammaglobulinemia, positive antinuclear antibody (ANA) and anti‐smooth muscle antibody, and liver biopsy compatible with autoimmune hepatitis (AIH) (simplified AIH score = 6). Lack of response to prednisone therapy for probable AIH prompted further testing. Moreover, 24‐h urine copper was 1285 µg (normal 15–60 µg/24 h), ceruloplasmin was 9 mg/dL (initially 18 mg/dL), Kayser–Fleischer rings were appreciated, and elevated liver copper quantification. ATP7B gene testing revealed two heterozygous pathogenic variations in two different genes. Initiation of copper chelation therapy led to the resolution of symptoms and normalization of aminotransferases in 8 weeks. This case underscores the need for timely WD evaluation in patients with atypical presentations.
Mosher et al. (Wed,) studied this question.