[Haemochromatoses. New understanding, new treatments].
Haemochromatoses encompass a variety of genetic iron overload diseases. The most frequent entity remains HFE-related haemochromatosis. The other syndromes include diseases related to mutations of the hemojuvelin, hepcidin, transferrin receptor 2 and ferroportin genes. Iron excess is due to deficiencies in either hepcidin or ferroportin, the two key regulatory proteins of iron metabolism. Diagnosis rests essentially upon non invasive clinical, biological and imaging criteria. The mainstay of iron overload treatment is venesection therapy in case of hepcidin deficiency, the therapeutic approach for the future being hepcidin supplementation. In ferroportin deficiency, oral chelation is an interesting orientation. The recent creation in France of a reference center and of several competence centers for rare genetic iron overload diseases represents a valuable organization for improving both the understanding of the diseases and the management of the patients.
Brissot
P
P
Inserm U522, Service des Maladies du Foie, Centre de Référence des Surcharges en fer rares d'Origine Génétique, CHU Pontchaillou, 35033 Rennes, France. pierre.brissot@univ-rennes1.fr
D006432:Hemochromatosis / Q000175:diagnosis / Q000209:etiology / Q000628:therapy; D006801:Humans