PURPOSE OF REVIEW:

Hereditary liver diseases resulting in copper and iron overload may cause significant morbidity and mortality if not diagnosed and treated early. The goal of this review is to highlight the key publications on genetics, diagnosis and management of hemochromatosis and Wilson disease over the past 18 months.

RECENT FINDINGS:

Several recent advancements have been made in the genetic diagnosis of hemochromatosis and Wilson disease. Uncommon HFE mutations resulting in phenotypic hemochromatosis among C282Y heterozygotes have been identified from HFE gene sequencing. A serum ferritin less than 1000 μg/l in C282Y homozygotes was found to be associated with milder symptoms of hemochromatosis. Deferasirox was shown to reduce iron overload in patients with hemochromatosis and may be an option for patients who cannot tolerate phlebotomy. There was found to be evidence of genotype and phenotype correlation in Wilson disease, which can be diagnosed by genetic sequencing. A modified diagnostic guideline has been developed for children with Wilson disease with mild liver disease that increases the sensitivity and specificity of diagnosis. Also treatment with copper chelating agents has less hepatic treatment failures when compared with zinc monotherapy.

SUMMARY:

Advancements in diagnosis of hemochromatosis and Wilson disease may lead to earlier diagnosis and treatment with resulting decrease in morbidity and mortality.