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Late-onset Wilson's disease.

Peter Ferenci1, Anna Członkowska, Uta Merle

  • 1Department of Internal Medicine III, Gastroenterology and Hepatology, Medical University of Vienna, Vienna, Austria. peter.ferenci@meduniwein.ac.at

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Summary

Late-onset Wilson's disease (WD) often goes undiagnosed. This study found that late-onset WD shares similar genetic mutations and clinical features with earlier onset cases, suggesting other factors influence presentation.

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Area of Science:

  • Genetics
  • Hepatology
  • Neurology

Background:

  • Wilson's disease (WD) exhibits variable clinical symptoms and age of onset.
  • Late-onset WD, presenting after age 40, is frequently overlooked in clinical practice.

Purpose of the Study:

  • To investigate the clinical characteristics and genetic mutations in patients with Wilson's disease who are symptomatic after 40 years of age.
  • To determine if late-onset WD differs genetically or phenotypically from earlier-onset WD.

Main Methods:

  • Evaluation of clinical data, laboratory results, and ATP7B gene mutation analysis in 46 patients diagnosed with WD after age 40.
  • Multinational study data from 1223 patients, focusing on 46 individuals with late-onset WD and 2 asymptomatic siblings diagnosed late.

Main Results:

  • Thirty-one patients presented with neurological symptoms and 15 with liver disease, with a mean age of onset of 44.5 and 47.1 years, respectively.
  • Hepatic copper levels were elevated in most patients tested. Liver biopsy findings revealed cirrhosis in a significant proportion of both neurological and hepatic presentations.
  • Genetic analysis showed mutations in the ATP7B gene in 27 of 46 index cases, with no significant difference in mutation frequency compared to earlier-onset WD.

Conclusions:

  • Late-onset Wilson's disease is an underdiagnosed condition with clinical and genetic profiles similar to earlier-onset WD.
  • The study suggests that factors beyond ATP7B gene mutations may influence the diverse phenotypic presentation of Wilson's disease.