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Key PointsQuestionWhat are the risks of primary hepatic malignancies or death by age 75 years in hemochromatosis HFE p.C282Y homozygotes identified in genotyping in a community sample? FindingsIn this cohort study that included 451 186 individuals, the risk of primary hepatic malignancy among 1294 male homozygous participants compared with men without pathogenic variants was 7.2% vs 0.6%, and the risk of all-cause death was 19.5% vs 15.1%; both differences were statistically significant. There were no statistically significant associations for women. MeaningAmong men, HFE p.C282Y homozygosity was significantly associated with increased risk for incident primary hepatic malignancy and excess mortality.
JAMA – American Medical Association
Published: Nov 24, 2020
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