Wilson's disease: A rare but puzzling diagnosis

Document Type

Conference Proceeding

Publication Date


Publication Title

Am J Gastroenterol


Introduction: Wilson's disease (WD) is an autosomal recessive disorder involving a mutation of the ATP7B gene, causing copper deposition in various organs such as the liver, brain, cornea, and kidneys. It manifests as a variety of symptoms, including neurological and hepatic dysfunction. We discuss an unusual case of a 43-year-old male with Crohn's disease presenting with acute liver failure and mental status changes due to WD. Case Description/Methods: Our patient presented after experiencing jaundice, dark urine, and epistaxis. Initial labs showed hyperbilirubinemia (7 mg/dL), transaminitis (AST 264 IU/L and ALT 231 IU/L), alkaline phosphatase at 167 IU/L, thrombocytopenia (54 K/uL), and elevated INR (3.34). On further evaluation, he was found to have a positive ANA titer (>1:1280) and anti-smooth muscle antibody. He also had a low ceruloplasmin (30 mg/dL), serum copper level (543 ug/L), and an elevated urinary copper level of 101 (mcg/24h). Based on the work up, there was concern for autoimmune hepatitis (AIH) versus WD. Ophthalmological exam did not reveal Kayser-Fleischer rings. His liver biopsy showed evidence of acute cholestatic hepatitis. Notably, the biopsy also showed increased copper quantification (250 mcg/d), keeping WD a possibility. He was started on steroids due to concern for AIH, without improvement. Unfortunately, his hospital course was complicated by encephalopathy and seizure-like activity that progressed to coma, requiring intubation. CT head showed cerebral edema from hyperammonemia. He also developed acute renal failure, requiring dialysis. Ultimately, our patient received a liver transplant. Explant pathology revealed copper deposition reflecting WD with genetic testing pending. The patient's mentation and strength steadily improved following transplantation. Discussion: While genetic testing remains diagnostic for WD, ceruloplasmin and copper levels are also investigated. Even though the copper deposition in the liver was high, making WD remain a concern, it is important to recognize high copper deposition can be seen in other liver diseases, such as primary biliary cirrhosis and cholestatic injury. In our patient the etiology of the liver failure remained indeterminate at the time of transplantation with continued investigation following transplant. Due the hereditary implications of rare genetic diseases, we encourage clinicians to pursue diagnoses. Importantly, siblings of patients with WD should be similarly tested for WD and monitored for liver disease. (Table Presented).

PubMed ID

Not assigned.





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