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• W2922005648 abstract "Introduction Wilson disease (WD) is a disorder of abnormal copper metabolism prevalent in young populations. Though there has been mention of WD in older patients, such cases are extremely rare. Herein we describe an unusual presentation of acute liver failure in a 72-year-old female. Case Report A 72-year-old woman with history significant for lupus on chronic Methotrexate presented to our institution for acute liver failure. Family and social history were unremarkable. Admission labs were AST 125, ALT 94, ALP 468, T-bilirubin 0.7, D-bilirubin 0.3, INR 1.3. Progressive decline in patient's liver function prompted liver biopsy revealing steatohepatitis, minimal fibrosis 1a/4, cholestasis, and anisonucleosis consistent with methotrexate induced hepatotoxicity versus WD (Figure 1). Patient was initially managed conservatively with working diagnosis of presumed methotrexate induced hepatotoxicity. However, suspicion for WD increased when patient developed hemolytic anemia, acute renal failure, depressed mental status and worsening jaundice. Patient underwent slit lamp examination with equivocal findings of Kaiser-Fleischer rings. Notable laboratory values included serum copper of 79 mcg/dL, 24-hour urinary copper excretion of 31 mcg/24 hr (GFR 34 at time of collection), and ceruloplasmin of 14 mg/dL. Non-ceruloplasmin bound copper was 37 μg/dL. Quantitative hepatic copper returned elevated at 298 mcg cu/g. Labs progressed to AST 124, ALT 38, ALP 475, T-bilirubin 34 .7, D-bilirubin 30.8, INR 2.58. Genetic testing with whole gene sequencing revealed heterozygosity for a single copy of a point mutation in the ATP7B gene (A to G substitution at position 226). Unfortunately, patient ultimately passed away.2410 Figure 1. Liver biopsy of our patient revealing steatohepatitis with moderate activity (6/8), minimal increase in fibrosis (1a/4), cholestasis, and anisonucleosis.Discussion Wilson Disease is diagnosed on the basis of several clinical and biochemical tests. In our case, symptoms consistent with WD included cirrhosis, neuro-psychiatric depression, equivocal Kaiser-Fleischer rings, hemolytic anemia and acute renal failure. Convincing laboratory values included low ceruloplasmin, elevated quantitative hepatic copper, elevated non-ceruloplasmin bound copper and anisonucleosis on biopsy. Genetic testing revealed a variant of unclear significance in the ATP7B gene, and recent literature has cited high alleleic heterogeneity patients with WD. This case illustrates the atypical presentation of WD in an elderly 72-year-old patient, highlighting the importance of maintaining clinical suspicion for WD even in older patients." @default.
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• W2922005648 date "2018-10-01" @default.
• W2922005648 modified "2023-09-27" @default.
• W2922005648 title "Wilson Disease: Acute Liver Failure in a 72-Year-Old Patient" @default.
• W2922005648 doi "https://doi.org/10.14309/00000434-201810001-02409" @default.
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