Fulminant Liver Failure Secondary to Wilson Disease with Successful Bridging to Transplant Using Plasma Exchange: A Case Report

Introduction: Wilson disease (WD) is a genetic disorder that disrupts copper binding to ceruloplasmin, with the resulting copper accumulation causing hepatic dysfunction and cirrhosis primarily. Initial presentation with acute liver failure (ALF), referred to as fulminant Wilson disease (FWD), is rare.1,3,4 FWD is uniformly fatal without transplant, from a combination of liver failure, and copper-mediated hemolysis and acute kidney injury.5,6 Multiple strategies for bridging patients to liver transplant have been documented, including plasma exchange (PLEX) and continuous renal replacement therapy (CRRT), as presented in this case.7 Case Description: This patient, with a family history of WD, presented with abdominal distention and lower limb edema, and was found to have elevated bilirubin, and increased AST:ALT ratio, with notably low ALP, as well as elevated INR. Extensive work-up for chronic liver disease was significant only for a borderline low ceruloplasmin. She was transferred to our facility for liver biopsy, and her course was complicated by worsening mentation, meeting criteria for ALF. With high suspicion for FWD, she was transferred to the ICU and initiated on PLEX and CRRT, until she received liver transplant, after which she was able to stop renal replacement therapy. Her liver biopsy ultimately confirmed the diagnosis of WD. Discussion: To treat FWD, PLEX rapidly removes accumulated free serum copper which prevents further hemolytic anemia and acute tubular necrosis. CRRT between PLEX session limits re-accumulation of copper and gradually removes serum urea nitrogen, decreasing the risk of cerebral edema. Both therapies can bridge patients to liver transplant but are not long-term treatment options. Our case is an example of a rare condition, FWD, that was successfully managed with PLEX and CRRT, allowing the patient to receive definitive transplant, and without further need for renal replacement.