S2948 Challenges in Recognizing and Diagnosing Wilson Disease

Abstract

Introduction: Wilson disease is a rare autosomal recessive disease leading to impaired copper homeostasis and accumulation in the liver, brain, and other organs. It is manageable, and physicians must familiarize themselves with the diversity of its presentation. Our case sheds light on the challenges; health care providers face in establishing the diagnosis. Case Description/Methods: A fifty-eight-year-old female was admitted to the hospital for altered mental status who had a dramatic hospital course with acute liver failure complicated by shock and multiorgan failure. Her past medical history is significant for COPD, liver cirrhosis. Family history is positive for Alpha-1 Antitrypsin deficiency. She presented with acute psychosis and altered mental status. Patient was admitted with suspected hepatic encephalopathy. She developed acute liver failure followed by shock and multiorgan failure. Her work up came back as Hg 6.7, Plt 27, INR 2.1, Haptoglobin < 8 mg/dl, Coombs negative, Ceruoplasmn 5.9, copper serum 32, 24 hours urine copper level 42 and urine copper level 351. Previously, she complained of tremor and slurred speech. She was evaluated by neurology team for seizure like activity, but it was found that her movements were compelling choreiform movements (Figure). Liver cirrhosis evaluation started on 2019 when she was evaluated for new onset ascites. Her exam showed abdominal distension and lower limb edema, labs showed ALP 247, AST/ALT 51/16, total bilirubin 0.7, ANA >1: 1280, alpha 1 antitrypsin low 72 with MZ phenotype, Ceruplasmin level 13. Liver Biopsy Showed findings consistent with moderately active steatohepatitis with cirrhosis. It was presumed that her liver cirrhosis was related to A-1AT deficiency/NASH. The low ceruplasmin has slipped and the diagnosis of Liver Cirrhosis secondary to A-1AT deficiency carried on. Discussion: Wilson disease caused by mutations in the ATP7B gene responsible for intracellular copper transporter's function, led to impairment in biliary copper excretion leading to the deposit of copper in several organs. The diagnosis is based on the score developed at the 8th International Meeting on Wilson Disease in Leipzig (8). If the score is ≥4, Wilson disease is highly likely. In our patient, points are given as follows: Neuropsychiatric symptoms suggestive of Wilson disease (2), Coombs-negative hemolytic anemia with high serum copper (1), Serum ceruloplasmin < 10 mg/dL (2) with a total score of 5 points, which made her diagnosis with Wilson disease is highly likely.Figure 1.: Kayser-Fleisher ring.