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• W2052809501 abstract "Introduction. – L’hémochromatose génétique est une maladie fréquente avec une prévalence dans la population caucasienne estimée entre 1,5 et 3 ‰. Sa présentation clinique s’est modifiée au cours de ces dernières années et actuellement la cirrhose bronzée avec diabète ne représente plus que 10 % des formes cliniques au moment du diagnostic. Actualités et points forts. – En 1996, la découverte de la mutation C282Y au niveau du gène HFE a transformé la stratégie diagnostique de l’hémochromatose génétique. Actuellement chez un patient ayant une asthénie isolée, des manifestations articulaires inexpliquées ou une cytolyse hépatique modérée, le diagnostic d’hémochromatose génétique doit être envisagé. Dans ces cas, une élévation du coefficient de saturation de la transferrine supérieure à 45 % impose la recherche d’une homozygotie C282Y qui affirme le diagnostic d’hémochromatose. La ponction biopsie hépatique n’est plus nécessaire pour le diagnostic, mais reste utile en cas de suspicion de cirrhose qui constitue le facteur de risque principal du carcinome hépatocellulaire. Le traitement repose toujours sur les saignées réalisées selon un protocole précis. Une enquête familiale doit être réalisée lors de chaque nouveau cas diagnostiqué. Perspectives et projets. – La reconnaissance du gène HFE permet maintenant d’individualiser facilement l’hémochromatose génétique des autres surcharges en fer, au sein desquelles émerge une entité nouvelle, l’hépatosidérose dysmétabolique. L’évolution de certains sujets C282Y homozygotes qui ne présentent aucune surcharge en fer reste à étudier et alimente la controverse sur l’opportunité d’un dépistage systématique. Introduction. – Hereditary hemochromatosis is a fairly common disease in the Caucasian population, with a prevalence estimated at between 1.5 to 3/1,000 inhabitants. Over the past few years, its symptomatology has altered; at present, its clinical aspect with diabetes mellitus, cirrhosis, and darker skin pigmentation only constitutes 10% of new cases of this disease. Current knowledge and key points. – In 1996, the discovery of the C282Y mutation in the HFE gene radically altered the diagnostic approach to hereditary hemochromatosis. At present, any patient admitted with an isolated case of asthenia, or with arthralgia or hypertransaminasemia should be examined via transferrin-saturation testing: if the transferrin saturation coefficient is > 45%, then the presence of the C282Y mutation should be investigated to confirm the diagnosis of hemochromatosis. A liver biopsy is no longer necessary to establish the diagnosis, but this is still useful in cases of possible cirrhosis, which is the main risk factor for hepatocellular carcinoma. Phlebotomy remains the sole recommended treatment, and should be undertaken in a case-specific manner. Family screening should be carried out for all first-degree relatives for every new case that is diagnosed. Future prospects and projects. – The discovery of the HFE gene has permitted hereditary hemochromatosis to be easily differentiated from other forms of hepatic iron overload including a new syndrome, dysmetabolic hepatosiderosis. Cases of homozygotic C282Y without hepatic iron overload have been described, but the clinical outcome of some of these cases requires further study, and adds to the controversy on whether systematic population screening should be made available." @default.
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• W2052809501 date "2000-11-01" @default.
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• W2052809501 title "L’hémochromatose génétique" @default.
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• W2052809501 doi "https://doi.org/10.1016/s0248-8663(00)00252-6" @default.
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