P1303 - Wilson Disease With Incidental Presentation Through Chronically Elevated Liver Enzymes

Cody Hu, MD¹, Craig Peterson, MD², Eugenia Tsai, MD³, Lisa Pedicone, PhD³, Jan Petrasek, MD, PhD³, Fabian Rodas, MD³, Andres Gomez-Aldana, MD³, Eric J. Lawitz, MD⁴, Fred Poordad, MD³, Carmen Landaverde, MD^5
1University of Texas Health San Antonio, San Antonio, TX; ²Clinical Pathology Associates, Austin, TX; ³Texas Liver Institute, San Antonio, TX; ⁴The Texas Liver Institute, University of Texas Health, San Antonio, TX; ⁵Texas Liver Institute, Austin, TX

Introduction: Wilson disease (WD) is a rare genetic disorder caused by abnormal copper metabolism. We report a case of WD that was misdiagnosed with metabolic dysfunction-associated steatotic disease (MASLD) resulting in a delay of appropriate treatment for years.

Case Description/Methods: A 27-year-old male with persistently elevated aminotransferases presented for chronic liver disease (CLD) evaluation. Elevated aspartate aminotransferase (AST) and alanine aminotransferase (ALT) were incidentally noticed during a 2013 ER visit for cough and fluctuated between 100-500 U/L over subsequent years. In 2022, liver ultrasound and FibroScan revealed moderate steatosis (CAP 278) and fibrosis (8.6 kPa). He was diagnosed with MASLD, however he lacked features of the metabolic syndrome with the exception of central obesity. Despite efforts focused on lifestyle modifications, his AST and ALT remained elevated. In 2024, CLD workup revealed normal iron studies and alpha-1 antitrypsin level but low ceruloplasmin (4 mg/dL; ref range 18-36 mg/dL). 24-hour urine copper test was elevated (185 μg; ref range 15-60 μg), establishing his diagnosis of WD. He underwent a liver biopsy that supported the diagnosis of WD with a hepatic copper concentration of 1264.1 μg/g (Figure 1). Copper chelator trientine was started, and he remained asymptomatic with down-trending aminotransferases.

Discussion: WD, caused by mutations in the ATP7B gene, results in impaired copper excretion. Copper accumulation in different organs, especially the liver, brain, and eyes, can cause various symptoms including jaundice, neuropsychiatric abnormalities, and Kayser-Fleischer rings. The variable presentation and wide age of onset (2-80 years) contribute to diagnostic challenges. In this case, the lack of classic symptoms resulted in a delay of diagnosis. The absence of a clear pattern in AST and ALT levels further masked the underlying cause. Hepatic steatosis on imaging study may lead to misattributing aminotransferase abnormalities to MASLD since WD can present with such findings. This patient’s biopsy revealed a slightly increased copper stain, a nonspecific finding that can be seen in several other liver diseases. His diagnosis was established based on his ceruloplasmin < 10 mg/dL and his 24-hour urinary copper excretion >100 μg. This case highlights the importance of comprehensive evaluation of unexplained elevated liver enzymes to ensure timely diagnosis and intervention of WD.



Disclosures:


Cody Hu, MD¹, Craig Peterson, MD², Eugenia Tsai, MD³, Lisa Pedicone, PhD³, Jan Petrasek, MD, PhD³, Fabian Rodas, MD³, Andres Gomez-Aldana, MD³, Eric J. Lawitz, MD⁴, Fred Poordad, MD³, Carmen Landaverde, MD⁵. P1303 - Wilson Disease With Incidental Presentation Through Chronically Elevated Liver Enzymes, ACG 2024 Annual Scientific Meeting Abstracts. Philadelphia, PA: American College of Gastroenterology.