title: Late onset fulminant Wilson's disease: a case report and review of the literature.
abstract: Wilson's disease (WD) is an autosomal recessive inherited disorder of hepatic copper metabolism. WD can be present in different clinical conditions, with the most common ones being liver disease and neuropsychiatric disturbances. Most cases present symptoms at < 40 years of age. However, few reports exist in the literature on patients in whom the disease presented beyond this age. In this report, we present a case of late onset fulminant WD in a 58-year-old patient in whom the diagnosis was established clinically, by genetic analysis of the ATP7B gene disclosing rare mutations (G1099S and c.1707+3insT) as well as by high hepatic copper content. We also reviewed the relevant literature. The diagnosis of WD with late onset presentation is easily overlooked. The diagnostic features and the genetic background in patients with late onset WD are not different from those in patients with early onset WD, except for the age. Effective treatments for this disorder that can be fatal are available and will prevent or reverse many manifestations if the disease is discovered early.
authors.affiliation: Ella Weitzman, Peretz Weiss, Ziv Ben Ari, Liver Disease Center, Sheba Medical Center, Ramat Gan 52621, Israel.
authors.forename: Ella
authors.initials: E
authors.lastname: Weitzman
authors.affiliation: Ella Weitzman, Peretz Weiss, Ziv Ben Ari, Liver Disease Center, Sheba Medical Center, Ramat Gan 52621, Israel.
authors.forename: Orit
authors.initials: O
authors.lastname: Pappo
authors.affiliation: Ella Weitzman, Peretz Weiss, Ziv Ben Ari, Liver Disease Center, Sheba Medical Center, Ramat Gan 52621, Israel.
authors.forename: Peretz
authors.initials: P
authors.lastname: Weiss
authors.affiliation: Ella Weitzman, Peretz Weiss, Ziv Ben Ari, Liver Disease Center, Sheba Medical Center, Ramat Gan 52621, Israel.
authors.forename: Moshe
authors.initials: M
authors.lastname: Frydman
authors.affiliation: Ella Weitzman, Peretz Weiss, Ziv Ben Ari, Liver Disease Center, Sheba Medical Center, Ramat Gan 52621, Israel.
authors.forename: Yael
authors.initials: Y
authors.lastname: Haviv-Yadid
authors.affiliation: Ella Weitzman, Peretz Weiss, Ziv Ben Ari, Liver Disease Center, Sheba Medical Center, Ramat Gan 52621, Israel.
authors.forename: Ziv
authors.initials: Z
authors.lastname: Ben Ari
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics* / Q000378:metabolism; D017668:Age of Onset; D001706:Biopsy; D027682:Cation Transport Proteins / Q000235:genetics* / Q000378:metabolism; D000073840:Copper-Transporting ATPases; D004252:DNA Mutational Analysis; D017809:Fatal Outcome; D005260:Female; D020022:Genetic Predisposition to Disease; D006527:Hepatolenticular Degeneration / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism / Q000628:therapy; D006801:Humans; D008099:Liver / Q000378:metabolism / Q000473:pathology; D008875:Middle Aged; D009154:Mutation; D010641:Phenotype; D011237:Predictive Value of Tests; D013997:Time Factors
chemical_list: D027682:Cation Transport Proteins; D000251:Adenosine Triphosphatases; C000612464:ATP7B protein, human; D000073840:Copper-Transporting ATPases
keywords: ATP7B gene mutations; Copper; Fulminant; Late onset; Wilson’s disease