Optimising the diagnosis and the treatment of iron overload diseases

Pierre Brissot (1, 2)

1 Foie, métabolismes et cancer
2 Centre de référence des surcharges en fer rares d'origine génétique

A number of human disorders are related to chronic iron overload, either of genetic or acquired origin. The multi-organ damage produced by iron excess leads, in adults and in children, to severe clinical consequences, affecting both quality of life and life expectancy. The diagnosis is increasingly based on a non-invasive strategy, resorting to clinical, biological and imaging data. The treatment rests on either venesection or chelation therapy, depending on the etiology. Major advances in the fields of molecular biology, pharmacology, and biotechnology pave the road for key improvements in the diagnostic and therapeutic management of the patients.

Keywords: Hemochromatosis; Iron overload; Transferrin saturation; Ferritin; Hepcidin; Ferroportin; Hemojuvelin; Non-transferrin bound iron; Venesection; Iron chelation

Domains: Life Sciences [q-bio]; Human health and pathology; Hépatology and Gastroenterology

Pierre Brissot. Optimising the diagnosis and the treatment of iron overload diseases. Expert Review of Gastroenterology & Hepatology, 2016, 10 (3), pp.359-370. ⟨10.1586/17474124.2016.1119043⟩. ⟨hal-01231411⟩