AI Article Synopsis
- - A family was found to have both Wilson's disease and genetic haemochromatosis, with the 52-year-old man diagnosed with the latter condition, while his siblings exhibited symptoms of Wilson's disease.
- - The sister had the same genetic markers as the brother but showed normal liver iron levels and high copper levels, likely due to excessive dietary copper intake.
- - The combination of these two diseases is unusual, but Wilson's disease might develop after 50 years, highlighting the need to consider it in cases of unexplained chronic liver disease.
Article 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.
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| http://dx.doi.org/10.1097/00042737-200601000-00008 | DOI Listing |
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