Hereditary hemochromatosis: effect of excessive alcohol consumption on disease expression in patients homozygous for the C282Y mutation.
Am J Epidemiol
; 158(2): 129-34, 2003 Jul 15.
Article
en En
| MEDLINE
| ID: mdl-12851225
ABSTRACT
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 1745.2 vs. 968.7 microg/liter, p< 0.0001; serum iron 39.9 vs. 36.0 micromol/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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Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Consumo de Bebidas Alcohólicas
/
Hemocromatosis
Tipo de estudio:
Etiology_studies
/
Observational_studies
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Prognostic_studies
/
Risk_factors_studies
Límite:
Adolescent
/
Adult
/
Aged
/
Aged80
/
Female
/
Humans
/
Male
/
Middle aged
País/Región como asunto:
Europa
Idioma:
En
Revista:
Am J Epidemiol
Año:
2003
Tipo del documento:
Article
País de afiliación:
Francia