Journal Article

Hereditary Hemochromatosis: Effect of Excessive Alcohol Consumption on Disease Expression in Patients Homozygous for the <i>C282Y</i> Mutation

Virginie Scotet, Marie-Christine Mérour, Anne-Yvonne Mercier, Brigitte Chanu, Thérèse Le Faou, Odile Raguénes, Gérald Le Gac, Catherine Mura, Jean-Baptiste Nousbaum and Claude Férec

in American Journal of Epidemiology

Published on behalf of Johns Hopkins Bloomberg School of Public Health

Volume 158, issue 2, pages 129-134
Published in print July 2003 | ISSN: 0002-9262
Published online July 2003 | e-ISSN: 1476-6256 | DOI:
Hereditary Hemochromatosis: Effect of Excessive Alcohol Consumption on Disease Expression in Patients Homozygous for the C282Y Mutation

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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 µg/liter, p< 0.0001; serum iron: 39.9 vs. 36.0 µmol/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.

Keywords: alcohol drinking; disease susceptibility; hemochromatosis; hereditary diseases; iron overload; Abbreviations: ALT, alanine aminotransferase; AST, aspartate aminotransferase; CI, confidence interval; OR, odds ratio.

Journal Article.  3939 words.  Illustrated.

Subjects: Public Health and Epidemiology

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