LIVER: Edited by Don RockeyMetals and the liverMaxwell, Kathryn L.; Kowdley, Kris V.Author Information Digestive Disease Institute, Virginia Mason Medical Center, Seattle, Washington, USA Correspondence to Kris V. Kowdley, MD, 1201 9th Avenue, Seattle, WA 98101, USA. Tel: +1 206 540 5182; fax: +1 206 342 6575; e-mail: [email protected] Current Opinion in Gastroenterology: May 2012 - Volume 28 - Issue 3 - p 217-222 doi: 10.1097/MOG.0b013e3283521d82 Buy Metrics Abstract 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. © 2012 Lippincott Williams & Wilkins, Inc.