Late onset of Wilson's disease in a family with genetic haemochromatosis.
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.
Dib
Nina
N
Department of Hepato-Gastroenterology, University Hospital, Angers, France.
Valsesia
Emmanuelle
E
Malinge
Marie Claire
MC
Mauras
Yves
Y
Misrahi
Micheline
M
Calès
Paul
P
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
D003300:Copper