Abstract

Rational: We hope to bring awareness to the importance of a high index of suspicion and full workup for Wilson’s disease to prevent delayed diagnosis of this treatable condition in the future. Introduction: A 63-year-old male with a past medical history significant for end stage cirrhosis of unknown etiology was admitted to our general medicine service in June of 2021. He had been admitted in 2013 for complications of cirrhosis and found to have ferritin of 2999. He was lost to follow up with a presumptive diagnosis of hereditary hemochromatosis. On this admission, the patient was found to have a ferritin of 4110, hyperammonemia, altered mental status and macrocytosis consistent with the working diagnosis of hemochromatosis.

 Methods: We thoroughly reviewed hospitalization records to describe his workup and diagnosis. Outcomes: Liver biopsy showed iron deposition. Diagnosis of hemochromatosis left many clinical findings unexplained. The patient’s mental status did not improve when ammonia was within reference range. He had hyperbilirubinemia, Coomb’s negative hemolytic anemia, an elevated AST to ALT ratio, metal deposition on the brain and ocular rings prompting consideration of Wilson disease. 24-hour urine copper and serum copper were both elevated, and serum ceruloplasmin was low consistent with diagnostic criteria. Genetic analysis revealed a single recessive H63D HFE gene mutation. However, given chronic inflammation of the liver, the mutation triggered features of hemochromatosis, masking the underlying Wilson’s disease.

Discussion: While our patient passed away, we hope to help clinicians better understand the presentation of Wilson’s disease and diagnose it more promptly.