Late onset fulminant Wilson's disease: A case report and review of the literature

Ella Weitzman, Orit Pappo, Peretz Weiss, Moshe Frydman, Yael Haviv-Yadid, Ziv Ben Ari*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)17656-17660
Number of pages5
JournalWorld Journal of Gastroenterology
Volume20
Issue number46
DOIs
StatePublished - 14 Dec 2014

Keywords

  • ATP7B gene mutations
  • Copper
  • Fulminant
  • Late onset
  • Wilson's disease

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