Case Report: Beyond the initial diagnosis: a case of Wilson's disease presenting as acute decompensated cirrhosis.
- 1Department of Internal Medicine, The University of Texas Rio Grande Valley School of Medicine, Edinburg, TX, United States.
- 2Department of Internal Medicine, The University of Texas Health Science Center at San Antonio Joe R and Teresa Lozano Long School of Medicine, San Antonio, TX, United States.
- 3Valley Baptist Medical Center - Department of Internal Medicine, The University of Texas Rio Grande Valley School of Medicine, Harlingen, TX, United States.
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.
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BibTeX
@article{bangash2026case,
title = {{Case Report: Beyond the initial diagnosis: a case of Wilson's disease presenting as acute decompensated cirrhosis.}},
author = {Aun Ali Bangash and Muhammad Ali Bangash and Chloe Cheree Harris and Veronica O'Brien and Learsi De Hoyos and Jose Campo Maldonado},
journal = {Frontiers in medicine},
year = {2026},
month = oct,
doi = {10.3389/fmed.2026.1973024},
url = {https://europepmc.org/article/MED/42953602},
note = {CC BY},
}
RIS
TY - JOUR
TI - Case Report: Beyond the initial diagnosis: a case of Wilson's disease presenting as acute decompensated cirrhosis.
AU - Aun Ali Bangash
AU - Muhammad Ali Bangash
AU - Chloe Cheree Harris
AU - Veronica O'Brien
AU - Learsi De Hoyos
AU - Jose Campo Maldonado
PY - 2026
DA - 2026/10/14
JO - Frontiers in medicine
DO - 10.3389/fmed.2026.1973024
UR - https://europepmc.org/article/MED/42953602
AB - 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.
SN - 2296-858X
ER -