S5505 Plasma Exchange as a Temporizing Therapy in Fulminant Wilson’s Disease: A Case Report

Introduction: Wilson’s disease, also known as hepatolenticular degeneration, is an autosomal recessive disorder of the ATP7B gene characterized by the impaired excretion of copper. Copper can accumulate within multiple organs, most notably the eyes, brain, and liver. Early manifestations of this disease include Kayser-Fleischer rings, neurological/psychological symptoms, and liver disease. We present a case of fulminant liver failure secondary to Wilson’s disease requiring the use of plasma exchange (PLEX) to temporize the patient’s acutely decompensating status while awaiting liver transplantation. Case Description/Methods: The patient is a 20-year-old woman with no significant past medical history who presented to the emergency department with complaints of progressive abdominal pain, diffuse weakness, lower extremity edema, jaundice, and scleral icterus. She denies any pertinent family history and denies any history of alcohol, illicit drug, or excessive acetaminophen use. Initial labs were significant for a total bilirubin of 8.3, direct bilirubin 4.9, aspartate aminotransferase 228, alanine aminotransferase 91, alkaline phosphatase 79, albumin 2.6, PT 40, and international normalized ratio 3.5. Computed tomography abdomen and pelvis noted an unremarkable appearance of the liver. Hepatology was consulted for further workup of her transaminitis. Full cirrhosis work up was initiated with repeat lab work significant for ceruloplasmin <8 mg/dL, serum copper levels 184 mcg/dL, and 24-hour urine copper levels >100,000 mcg. The patient was diagnosed with Wilson’s disease, and urgent transplant workup was initiated. While awaiting transplant, the patient developed intermittent episodes of encephalopathy during the hospitalization and was initiated on PLEX therapy. Once transplanted, the patient was discharged to a rehabilitation facility with resolution of her symptoms. The diagnosis of Wilson’s disease was further confirmed with genetic testing and an anatomopathological test of the explanted liver. Discussion: Though transplant is curative treatment for Wilson’s disease, urgent intervention may not be available. In multiple reports, the utilization of PLEX has proven to be an effective temporizing measure for critically ill patients with severe copper overload. It works to rapidly reduce levels of copper in addition to other metabolites that are not being properly excreted. When evaluating patients with Wilson’s disease presenting with acute decompensation, the utilization of PLEX should be considered as a stabilizing measure while awaiting liver transplant.