School of Medicine Publications
Document Type
Article
Publication Date
10-13-2026
Abstract
Wilson disease is a rare inherited disorder of copper metabolism that can cause progressive hepatic injury, cirrhosis, and, in severe cases, acute liver failure. Its variable presentation can overlap with more common causes of liver disease and delay recognition. We present a 28-year-old patient with one week of worsening jaundice, right upper quadrant abdominal pain, nausea and vomiting, and marked hyperbilirubinemia. Given a history of heavy alcohol use and a Maddrey Discriminant Function score of 73, severe alcohol-associated hepatitis was initially suspected. However, several months of reported alcohol abstinence, a strong maternal family history of early-onset cirrhosis, imaging evidence of established portal hypertension, and the severity of hepatic dysfunction prompted broader evaluation. Testing demonstrated low ceruloplasmin and elevated 24-h urinary copper, while autoimmune and viral testing was unrevealing. The overall clinical evaluation favored Wilson disease. During the hospitalization, suspected hepatorenal syndrome was managed with albumin, midodrine, and octreotide; portal-hypertensive ascites required paracentesis; and trientine plus zinc were prescribed as disease-specific therapy while transplant evaluation was pursued. Renal function improved, but severe liver disease persisted, and the patient was transferred to a transplant center for further evaluation. Long-term follow-up after transfer was unavailable. This case highlights the need to maintain a broad differential diagnosis in young adults with acute decompensation of chronic liver disease and to distinguish clinical diagnostic confidence from the degree of objective Wilson disease confirmation achieved during the index hospitalization.
Recommended Citation
Bangash, A. A., Bangash, M. A., Harris, C., O'Brien, V., De Hoyos, L., & Maldonado, J. C. Beyond the Initial Diagnosis: A Case of Wilson's Disease Presenting as Acute Decompensated Cirrhosis. Frontiers in Medicine, 13, 1973024. https://doi.org/10.3389/fmed.2026.1973024
Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 International License.
Publication Title
Frontiers in Medicine
DOI
10.3389/fmed.2026.1973024
Academic Level
faculty
Mentor/PI Department
Internal Medicine
Comments
© 2026 Bangash, Bangash, Harris, O’Brien, De Hoyos and Maldonado.
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