Case Presentation: A man in his 20s without significant medical history presented to the hospital with painful pruritic petechial lower extremity rash and was found to have elevated creatinine and liver function tests (LFTs). He was treated for acalculous cholecystitis and suspected hemolytic uremic syndrome or post-streptococcal glomerulonephritis. His renal function improved, but his bilirubin continued to rise. On physical exam, the patient was notably jaundiced and had prominent Kayser-Fleischer rings. Laboratory testing showed elevated urine copper levels. Liver biopsy and confirmatory testing of the ATP7B gene were consistent with Wilson disease. The patient was discharged on trientine with outpatient hepatology follow-up. He was readmitted one week later for a liver transplant work-up due to worsening LFTs. Transplantation was successful, and the patient was discharged.
Discussion: The patient’s acute liver dysfunction of unknown origin prompted initial consideration of Wilson disease. Wilson disease typically presents with a combination of hepatic, neurological, and psychological symptoms [1]. Mutations in the ATP7B gene result in impaired copper excretion, leading to copper accumulation, oxidative stress, and cell death [2].Early diagnosis and treatment of Wilson disease is imperative. Earlier treatment has been shown to have a more favorable prognosis [3], highlighting the importance of daily inpatient monitoring. However, the decision to begin treatment proved complex. Current AASLD guidelines state that with liver disease and Kayser-Fleisher rings, as with our patient, elevated 24-hour urine copper and serum ceruloplasmin < 20 mg/dL are sufficient for diagnosis [4]. Although he met diagnostic criteria, his bilirubin levels and overall clinical picture were unexpectedly improving without treatment. Further testing with a liver biopsy and genetic testing was pursued, and the results were consistent with Wilson Disease. Pharmacologic therapy for Wilson disease is typically copper chelating agents. Therefore, the patient began trientine therapy the day the liver biopsy had resulted. A repeat 24-hour urine copper level (3,446 µg/24 hr; reference range 3-35 µg/24 hr) verified chelation therapy was efficacious before discharge.Following his initial discharge, he was readmitted one week later. He demonstrated worsening LFTs and increased fatigue. His Model for End-Stage Liver Disease 3.0 score was calculated at 40, suggesting a risk of death within 90 days of 71.3% [5]. He was listed for liver transplant as status 1A with predicted life expectancy < 7 days. He received a liver transplant soon after, and the procedure was well tolerated. This drastic, life-threatening change in clinical status in a short amount of time displays why acute-onset cases of Wilson disease need close observation in hospital settings.
Conclusions: Overall, this case demonstrates a unique instance of suspected Wilson disease, both in presentation and disease progression. It was unusual the patient had no family history of Wilson disease or other liver disease, the onset was acute, and his bilirubin levels began to improve throughout his hospital course without any treatment initiation. This case highlights the delicate balance between keeping a broad differential and completing a thorough workup, while still ensuring effective treatment is expedited. In cases of Wilson disease, a delay in diagnosis and treatment must be avoided at all costs, as the impacts can be progressive, irreversible, and even fatal.