| Titre : | Hereditary hemochromatosis : Effect of excessive alcohol consumption on disease expression in patients homozygous for the C282Y mutation. (2003) |
| Auteurs : | Virginie SCOTET ; Brigitte CHANU ; Claude FEREC ; Thérèse Le Faou ; Gérald LE GAC ; Anne-Yvonne MERCIER ; Marie-Christine MEROUR ; Catherine MURA ; Jean-Baptiste NOUSBAUM ; Odile RAGUENES ; Etablissement Français du Sang-Bretagne. Site de Brest. Brest. FRA ; Inserm Emi 01-15. Laboratoire de Génétique Moléculaire. Chu Morvan. Brest. FRA |
| Type de document : | Article |
| Dans : | American journal of epidemiology (vol. 158, n° 2, 2003) |
| Pagination : | 129-134 |
| Langues: | Anglais |
| Mots-clés : | Gène ; Alcool ; Consommation alimentaire ; Alcoolisme ; Homme ; Facteur risque ; Epidémiologie ; Fer ; Métabolisme [pathologie] ; Enzymopathie ; Maladie héréditaire |
| Résumé : | [BDSP. Notice produite par INIST-CNRS IT6TR0xU. Diffusion soumise à autorisation]. Hereditary hemochromatosis is a common inherited disorder characterized by iron overload. A single mutation (C282Y) in the HFE gene is present in 80-95% of cases in populations of northern European extraction. The disorder presents a large phenotypic heterogeneity, and its expression can be influenced by environmental factors. This 1977-2002 study aimed to identify the influence of alcohol consumption on expression of the disease. The authors retrospectively registered 378 C282Y-homozygous patients treated in a blood center of western Brittany, France. In this cohort, 33 patients reported excessive alcohol consumption (8.7%). Those subjects presented significantly increased iron parameters (serum ferritin : 1,745.2 vs. 968.7 mug/liter, p<0.0001 ; serum iron : 39.9 vs. 36.0 mumol/liter, p=0.0040 ; transferrin saturation : 87.1 vs. 80.1%, p=0.0071) and elevated liver enzymes (alanine aminotransferase : 66.3 vs. 41.1 IU/liter, p=0.0003 ; aspartate aminotransferase : 56.2 vs. 34.9 IU/liter, p=0.0002). Their risk of skin pigmentation was also higher (odds ratio=3.4, p=0.0006). Results remained unchanged after adjustment. This study provides precise quantitative data about the impact of alcohol on expression of hereditary hemochromatosis in C282Y-homozygous patients. Excessive alcohol consumption accentuates disease expression and therefore the risk of cirrhosis and cancer. Consequently, these patients should be encouraged to consume very moderate quantities of alcohol. |
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