A Rare Case of Wilson Disease in a 72-Year-Old Patient. Issue 3 (March 2019)

• Record Type: Journal Article
• Authors: Cao, Christopher; Colangelo, Timothy; Dhanekula, Raja Koteswar; Brandt, Daniel; Laothamatas, Indira; Thapar, Manish; Herrine, Steven K.; Civan, Jesse M.
• Is Part Of: ACG Case Reports Journal. Volume 6:Issue 3(2019)
• Publication Date: 2019-03
• DOI: 10.14309/crj.0000000000000024
• Languages: English
• ISSNs: 2326-3253

Abstract

Abstract : ABSTRACT: Wilson disease is an autosomal recessive disorder of abnormal copper metabolism that is prevalent in the younger population, rarely presenting in patients older than 40 years. Clinical presentation may be variable, and diagnosis is often aided by clinical and biochemical tests. We report the case of a 72-year-old woman who presented with acute liver failure initially of unclear etiology. Our patient was initially managed for presumed drug-induced liver injury but ultimately diagnosed with Wilson disease on the basis of clinical presentation, laboratory testing, liver biopsy, quantitative hepatic copper, and abnormal genetic testing.