title: Late-onset Wilson's disease.
abstract: OBJECTIVE
  The clinical symptoms and age at onset of Wilson's disease (WD) are highly variable. This study investigated patients who became symptomatic at >40 years of age.
  
  
  METHODS
  Clinical features, laboratory data, and mutation analysis were evaluated in 46 (3.8%) of 1223 patients who were investigated in a multinational study on genotype-phenotype correlations (1053 index patients, 170 siblings) who were >40 years of age at onset of symptoms and, in 2 asymptomatic siblings, diagnosed at >40 years of age.
  
  
  RESULTS
  Thirty-one patients presented with neurologic symptoms (mean age, 44.5 years; range, 40-52; male/female, 14/17), 15 presented with liver disease (mean age, 47.1 years; range, 40-58; male/female, 6/9), and 2 were asymptomatic siblings. Hepatic copper content was measured in 17 patients and was above 250 microg/g dry weight in 13. One patient with hepatic presentation had "fulminant" WD, the remaining 14 abnormal liver function tests and/or hepatomegaly. Liver biopsy specimens were available in 13 patients presenting with liver disease (cirrhosis, 10; chronic hepatitis, 2; steatosis, 1; no abnormalities, 1) and in 14 neurologic patients (cirrhosis, 9; advanced fibrosis, 1; chronic hepatitis, 2; no abnormalities, 2). Twenty-seven of the 46 index cases had mutations on both chromosomes (including 13 H1069Q/H1069Q), 13 on just 1 chromosome.
  
  
  CONCLUSIONS
  Late-onset WD is a frequently overlooked condition. The diagnostic features and the frequency of late-onset WD gene mutations were not different than in patients with an earlier onset of disease. Factors other than ATP7B mutations may modify the phenotypic presentation of WD.
authors: Department of Internal Medicine III, Gastroenterology and Hepatology, Medical University of Vienna, Vienna, Austria. peter.ferenci@meduniwein.ac.at
authors: Peter
authors: P
authors: Ferenci
authors: Anna
authors: A
authors: Członkowska
authors: Uta
authors: U
authors: Merle
authors: Szalay
authors: S
authors: Ferenc
authors: Grazyna
authors: G
authors: Gromadzka
authors: Cihan
authors: C
authors: Yurdaydin
authors: Wolfgang
authors: W
authors: Vogel
authors: Radan
authors: R
authors: Bruha
authors: Hartmut T
authors: HT
authors: Schmidt
authors: Wolfgang
authors: W
authors: Stremmel
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics*; D000328:Adult; D017668:Age of Onset; D001706:Biopsy; D027682:Cation Transport Proteins / Q000235:genetics*; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics*; D003300:Copper / Q000378:metabolism; D000073840:Copper-Transporting ATPases; D004247:DNA / Q000235:genetics*; D018450:Disease Progression; D005260:Female; D005500:Follow-Up Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006527:Hepatolenticular Degeneration / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics*; D006801:Humans; D008099:Liver / Q000378:metabolism / Q000473:pathology; D008111:Liver Function Tests; D008875:Middle Aged; D009154:Mutation; D010641:Phenotype; D016133:Polymerase Chain Reaction; D012189:Retrospective Studies; D012307:Risk Factors; D013997:Time Factors
chemical_list: D027682:Cation Transport Proteins; D003300:Copper; D004247:DNA; D000251:Adenosine Triphosphatases; C000612464:ATP7B protein, human; D000073840:Copper-Transporting ATPases