Resumen de Haemochromatosis
2016 will mark 20 years since the discovery of the HFE gene. The greater awareness and improved diagnostic accuracy that have ensued have made cases of ‘bronze diabetes’ a rarity; management is now focused on earlier presentation. The role of liver biopsy is changing with the advent of non-invasive fibrosis assessment, and blood donor services are more willing now to accept patients for maintenance phlebotomy. Iron overload in the absence of the common HFE mutation C282Y is increasingly associated with mutations in a range of genes involved in iron homeostasis. Moreover, these genes are now becoming accessible in the clinic and provide targets for potential alternative therapies. Despite these advances, many patients still present with symptoms that do not respond to phlebotomy and therapeutic challenges remain in this group. However, in general, genetic haemochromatosis has become a milder disease as a result of earlier diagnosis and venesection before the development of significant organ damage.
