Wilson’s Disease Mimicking Autoimmune Hepatitis in a... : Official journal of the American College of Gastroenterology | ACG (2024)

Case Report: A 48-year-old African American woman with a past medical history of hypertension presented with acute liver failure. Her presenting symptoms included abdominal pain and distention, and a physical exam revealed scleral icterus. An abdominal ultrasound demonstrated liver cirrhosis, a previously undiagnosed condition. Liver function studies revealed an aspartate aminotransferase of 522 U/L, an alanine aminotransferase of 510 U/L, and a total bilirubin of 10 mg/dL. A work-up of the underlying etiology was in process when the patient acutely deteriorated with progressive encephalopathy and worsening liver function tests. A transjugular hepatic biopsy showed a pathological diagnosis of autoimmune hepatitis with liver parenchymal fibrosis and collapse. Given the concern for fulminant hepatic failure, the patient underwent a orthotopic liver transplantation. Studies on the explanted liver exhibited large quantities of copper, consistent with a diagnosis of Wilson’s disease.

Discussion: Wilson’s disease can often mimic autoimmune disease in presentation and histology. In Wilson’s disease presenting as autoimmune hepatitis, fatigue, malaise, and rashes may occur; laboratory findings included greatly elevated IgG, ANA, and ASMA levels. Wilson disease must be specifically investigated because treatment of the 2 diseases is entirely different.