Posters
Presenting Author Academic/Professional Position
Blake C Martin
Academic Level (Author 1)
Medical Student
Academic Level (Author 2)
Medical Student
Academic Level (Author 3)
Medical Student
Academic Level (Author 4)
Resident
Discipline/Specialty (Author 4)
Internal Medicine
Discipline Track
Clinical Science
Abstract Type
Case Report
Abstract
Background: This case highlights the diagnostic challenge of acute liver failure in a young adult initially presumed to have alcoholic hepatitis. Wilson disease, a rare but treatable cause of hepatic decompensation, must be considered, particularly in younger individuals with a suggestive biochemical profile and family history. The novelty of this case lies in the evolving diagnostic shift from alcohol-related liver disease to Wilson disease, underscoring the critical importance of comprehensive etiologic evaluation.
Case Presentation: A 28-year-old male with no known medical history presented with jaundice, abdominal pain, and systemic symptoms, including nausea, vomiting, and RUQ tenderness. He reported heavy alcohol use for a year, discontinued five months prior to admission. Physical exam showed scleral icterus, ascites, and bilateral lower extremity edema. Initial laboratory results revealed ceruloplasmin 13.8, urine copper 131, total bilirubin >30 mg/dL, direct bilirubin >10 mg/dL, AST 133 U/L, ALT 86 U/L, INR 2.05, creatinine 4.44 mg/dL, and sodium 123 mmol/L. Maddrey score was 73, MELD 40. Imaging confirmed cirrhosis, ascites, and gallbladder dyskinesia.
Although initially managed for presumed severe alcoholic hepatitis, further evaluation revealed a low ceruloplasmin level (13.8 mg/dL), low total copper (60 micrograms/dL), and a high 24-hour urine copper collection (131 micrograms/24h). Additionally, the patient had been abstaining from alcohol for the past 4 months. Given this and multiple maternal family members with a history of unexplained non-alcohol-related early-onset cirrhosis, Wilson’s disease became the primary working diagnosis. A 24-hour urinary copper test and serum copper were ordered. Other workup included negative viral hepatitis panels, autoimmune markers, and non-diagnostic MRCP. The patient was managed with albumin, midodrine, octreotide, vitamin repletion, broad-spectrum antibiotics, and fluid restriction. Given the diagnostic uncertainty, steroids were withheld. The patient remained hemodynamically stable but symptomatic and was evaluated for potential liver transplantation.
Conclusions: This case illustrates the importance of broadening the differential diagnosis in young adults with fulminant liver failure. While alcoholic hepatitis is common, Wilson disease must be considered, especially in patients under 40 with low ceruloplasmin and no ongoing alcohol use. Early recognition and referral for transplant can significantly improve outcomes. This case highlights the critical role of thorough metabolic and genetic evaluation in atypical or rapidly progressive liver failure presentations.
Presentation Type
Poster
Recommended Citation
Martin, Blake C.; Garcia, Stephen M.; Bangash, Aun A.; Peynado, Matthew; and Campo Maldonado, Jose, "The Price of Copper: Unmasking Wilson’s Disease" (2025). Research Colloquium. 28.
https://scholarworks.utrgv.edu/colloquium/2025/posters/28
Included in
The Price of Copper: Unmasking Wilson’s Disease
Background: This case highlights the diagnostic challenge of acute liver failure in a young adult initially presumed to have alcoholic hepatitis. Wilson disease, a rare but treatable cause of hepatic decompensation, must be considered, particularly in younger individuals with a suggestive biochemical profile and family history. The novelty of this case lies in the evolving diagnostic shift from alcohol-related liver disease to Wilson disease, underscoring the critical importance of comprehensive etiologic evaluation.
Case Presentation: A 28-year-old male with no known medical history presented with jaundice, abdominal pain, and systemic symptoms, including nausea, vomiting, and RUQ tenderness. He reported heavy alcohol use for a year, discontinued five months prior to admission. Physical exam showed scleral icterus, ascites, and bilateral lower extremity edema. Initial laboratory results revealed ceruloplasmin 13.8, urine copper 131, total bilirubin >30 mg/dL, direct bilirubin >10 mg/dL, AST 133 U/L, ALT 86 U/L, INR 2.05, creatinine 4.44 mg/dL, and sodium 123 mmol/L. Maddrey score was 73, MELD 40. Imaging confirmed cirrhosis, ascites, and gallbladder dyskinesia.
Although initially managed for presumed severe alcoholic hepatitis, further evaluation revealed a low ceruloplasmin level (13.8 mg/dL), low total copper (60 micrograms/dL), and a high 24-hour urine copper collection (131 micrograms/24h). Additionally, the patient had been abstaining from alcohol for the past 4 months. Given this and multiple maternal family members with a history of unexplained non-alcohol-related early-onset cirrhosis, Wilson’s disease became the primary working diagnosis. A 24-hour urinary copper test and serum copper were ordered. Other workup included negative viral hepatitis panels, autoimmune markers, and non-diagnostic MRCP. The patient was managed with albumin, midodrine, octreotide, vitamin repletion, broad-spectrum antibiotics, and fluid restriction. Given the diagnostic uncertainty, steroids were withheld. The patient remained hemodynamically stable but symptomatic and was evaluated for potential liver transplantation.
Conclusions: This case illustrates the importance of broadening the differential diagnosis in young adults with fulminant liver failure. While alcoholic hepatitis is common, Wilson disease must be considered, especially in patients under 40 with low ceruloplasmin and no ongoing alcohol use. Early recognition and referral for transplant can significantly improve outcomes. This case highlights the critical role of thorough metabolic and genetic evaluation in atypical or rapidly progressive liver failure presentations.
