P6004 - An Atypical Wilsonian Crisis: Acute Liver Failure and Pancreatitis in a 25-Year-Old Male

Ade Waterman, MBChB, Alexandra Kimchy, DO, Adam Khalaf, MD, Lavannya Atri, MD, Kathleen Nilles, MD, Alessandro El-Khoury, MD
MedStar Georgetown University Hospital, Washington, DC

Introduction: Wilson’s disease (WD) is a rare autosomal recessive disorder of copper metabolism affecting 1 in 30,000 individuals. It leads to copper accumulation in the liver, brain, and eyes with hepatic presentations ranging from chronic liver disease to acute liver failure (ALF). Although hepatic and neuropsychiatric symptoms are common, pancreatitis is a rare complication, typically seen only during fulminant Wilsonian crises. We present a case of a young male with no family history who developed ALF and acute pancreatitis due to Wilson’s disease, ultimately requiring liver transplantation.

Case Description/

Methods: A 25-year-old male with sickle cell trait presented from the Airforce with five days of abdominal pain, jaundice, and anorexia. Labs revealed acute liver injury (ALI) with elevated transaminases (AST 151, ALT 93), total bilirubin 32.4 mg/dL, INR 2.5. It was also notable that his lipase was 1,261 units/L, raising concern for concurrent pancreatitis. His Hgb was 8.3 gm/dL with positive hemolysis markers indicating hemolytic anemia. Workup revealed low ceruloplasmin (9 mg/dL) and elevated serum copper (113 ug/dL)); KF rings were confirmed on slit-lamp exam. Liver biopsy confirmed cirrhosis secondary to known WD. He was started on N-acetylcysteine and received 5 days of plasmapheresis before undergoing an orthotropic liver transplant. Due to elevated transaminases a few months after discharge, US was done and revealed hepatic artery stenosis which was managed medically on aspirin and Plavix. He did not have further admissions post-transplant and has been doing well.

Discussion: Wilson’s disease is rare. This patient presented only with liver involvement and no evidence of neurologic or psychiatric symptoms which have variable rates of occurrence. The presence of KF rings, low ceruloplasmin, elevated serum copper, and confirmatory liver biopsy established the diagnosis. His presentation with ALF and pancreatitis likely reflects a fulminant Wilsonian crisis. This case highlights the need for heightened clinical suspicion in young adults with unexplained liver injury and raises the question of whether screening guidelines should be revisited, especially for those without a known family history.

Disclosures:
Ade Waterman indicated no relevant financial relationships.
Alexandra Kimchy indicated no relevant financial relationships.
Adam Khalaf indicated no relevant financial relationships.
Lavannya Atri indicated no relevant financial relationships.
Kathleen Nilles indicated no relevant financial relationships.
Alessandro El-Khoury indicated no relevant financial relationships.

Ade Waterman, MBChB, Alexandra Kimchy, DO, Adam Khalaf, MD, Lavannya Atri, MD, Kathleen Nilles, MD, Alessandro El-Khoury, MD. P6004 - An Atypical Wilsonian Crisis: Acute Liver Failure and Pancreatitis in a 25-Year-Old Male, ACG 2025 Annual Scientific Meeting Abstracts. Phoenix, AZ: American College of Gastroenterology.