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International audience; Initial venesection therapy in dysmetabolic iron overload syndrome (DIOS) was shown to improve insulin resistance. However, no data are available on the long-term outcome of iron store, thus questioning the relevance of maintenance therapy. The aim of the study was to describe the long-term evolution of iron overload after successful iron removal in patients with DIOS. Patients diagnosed with DIOS from 1998 to 2003 and having completed venesection therapy were proposed an outpatient visit in 2009. Inclusion criteria were as follows: confirmation of the DIOS diagnosis, absence of iron-related treatment or bloodletting since the end of the initial venesection treatment, at least 2 years of follow-up since last phlebotomy. Clinical and biological data were recorded at diagnosis and at inclusion. A total of 58 patients were included. The mean liver iron content at diagnosis was 80±43 µmol/g and the mean amount of iron removed was 2.2±1.2 g. The mean follow-up time was 71±23 months since end of treatment. At inclusion, 64% of patients had recurrence of iron overload. Serum ferritin at diagnosis was the only parameter associated with recurrence of iron overload. In patients with DIOS, the course of iron loading after initial iron removal supports periodical follow-up to detect those patients with recurrence of iron overload who could benefit from maintenance therapy.

International audience; BACKGROUND: The current phenotypic descriptors of high Fe gene hemochromatosis are hardly specific and time dependent in a context of highly variable expressivity. We hypothesized that the rate of iron removed during maintenance therapy and corresponding to the iron reabsorption index (IRI) could be patient specific and may then represent a new useful phenotypic marker. AIM: The present study aimed to describe IRI with respect to its phenotypic specificity and to its potential usefulness. METHODS: We studied a cohort of 316 p.Cys282Tyr homozygous patients with stable low serum ferritin levels on maintenance therapy for at least 12 months. Characteristics at diagnosis, date and volume of phlebotomies, and parameters of iron metabolism throughout maintenance therapy were determined. RESULTS: IRI ranged from 1.3 to 6.1 mg/day (median: 2.44). It was lower in women (difference: 1.26 mg/day), mainly explained by physiological blood loss, weight, and alcohol consumption. IRI was correlated to iron burden and fibrosis stage at diagnosis, was stable over time (variation: 11.5%), and depended on serum ferritin level during therapy. CONCLUSION: Its independence from disease duration, its stability, its wide distribution, and its significant correlation with iron burden markers make IRI a valuable potential phenotypic indicator of the daily iron overabsorption in hemochromatosis. Moreover, IRI provides a conceptual frame for empiric adaptation of maintenance therapy.