Asset Details
Do you wish to reserve the book?
Wilson Disease: Acute Liver Failure in a 72-Year-Old Patient
Hey, we have placed the reservation for you!
By the way, why not check out events that you can attend while you pick your title.
Oops! Something went wrong.
Looks like we were not able to place the reservation. Kindly try again later.
Are you sure you want to remove the book from the shelf?
Wilson Disease: Acute Liver Failure in a 72-Year-Old Patient
Do you wish to request the book?
Wilson Disease: Acute Liver Failure in a 72-Year-Old Patient
Please be aware that the book you have requested cannot be checked out. If you would like to checkout this book, you can reserve another copy
We have requested the book for you!
Your request is successful and it will be processed during the Library working hours. Please check the status of your request in My Requests.
Oops! Something went wrong.
Looks like we were not able to place your request. Kindly try again later.
Journal Article
Wilson Disease: Acute Liver Failure in a 72-Year-Old Patient
2018
Overview
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 pg/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. 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 KaiserFleischer 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.
