title: Late onset of Wilson's disease in a family with genetic haemochromatosis.
abstract: We report the coexistence of Wilson's disease and genetic haemochromatosis in one family. The diagnosis of genetic haemochromatosis was established in a 52-year-old man. Among his siblings, one 57-year-old sister and one 55-year-old brother had decreased copper and ceruloplasmin levels in serum and increased urinary copper excretion. The sister shared the same human leucocyte antigen haplotypes and was homozygous for the HFE mutation C282Y, like the propositus. However, she had normal liver iron content and increased liver copper content. Her dietary copper intake was probably excessive. The association of Wilson's disease and genetic haemochromatosis is rare and has only been described twice. The onset of Wilson's disease after 50 years of age is rare; Wilson's disease should be considered in any patient with unexplained chronic liver disease; an excess in liver copper content might be induced by excessive dietary input in a susceptible individual.
authors.affiliation: Department of Hepato-Gastroenterology, University Hospital, Angers, France.
authors.forename: Nina
authors.initials: N
authors.lastname: Dib
authors.forename: Emmanuelle
authors.initials: E
authors.lastname: Valsesia
authors.forename: Marie Claire
authors.initials: MC
authors.lastname: Malinge
authors.forename: Yves
authors.initials: Y
authors.lastname: Mauras
authors.forename: Micheline
authors.initials: M
authors.lastname: Misrahi
authors.forename: Paul
authors.initials: P
authors.lastname: Calès
mesh_terms: D017668:Age of Onset; D002908:Chronic Disease; D003300:Copper / Q000008:administration & dosage / Q000378:metabolism; D005260:Female; D006432:Hemochromatosis / Q000150:complications / Q000235:genetics* / Q000378:metabolism; D006527:Hepatolenticular Degeneration / Q000150:complications / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D008099:Liver / Q000737:chemistry; D008107:Liver Diseases / Q000150:complications / Q000235:genetics* / Q000378:metabolism; D008297:Male; D008875:Middle Aged; D010375:Pedigree
chemical_list: D003300:Copper