Evangelista Andreia Silva, Nakhle Maria Cristina, de Araújo Thiago Ferreira, Abrantes-Lemos Clarice Pires, Deguti Marta Mitiko, Carrilho Flair José, Cançado Eduardo Luiz Rachid
Department of Gastroenterology from University of Sao Paulo School of Medicine, Avenue Dr Eneas de Carvalho Aguiar 255, 05403-000 Sao Paulo, SP, Brazil.
Laboratory of Medical Investigation (LIM-06), Institute of Tropical Medicine, University of Sao Paulo, Sao Paulo, SP, Brazil.
Biomed Res Int. 2015;2015:164671. doi: 10.1155/2015/164671. Epub 2015 Jan 14.
Iron abnormalities in chronic liver disease may be the result of genetic diseases or secondary factors. The present study aimed to identify subjects with HFE-HH in order to describe the frequency of clinical manifestations, identify risk factors for iron elevation, and compare the iron profile of HFE-HH to other genotypes in liver disease patients. A total of 108 individuals with hepatic disease, transferrin saturation (TS) > 45%, and serum ferritin (SF) > 350 ng/mL were tested for HFE mutations. Two groups were characterized: C282Y/C282Y or C282Y/H63D genotypes (n = 16) were the HFE hereditary hemochromatosis (HFE-HH) group; and C282Y and H63D single heterozygotes, the H63D/H63D genotype, and wild-type were considered group 2 (n = 92). Nonalcoholic liver disease, alcoholism, and chronic hepatitis C were detected more frequently in group 2, whereas arthropathy, hepatocarcinoma, diabetes, and osteoporosis rates were significantly higher in the HFE-HH group. TS > 82%, SF > 2685 ng/mL, and serum iron > 178 μg/dL were the cutoffs for diagnosis of HFE-HH in patients with liver disease. Thus, in non-Caucasian populations with chronic liver disease, HFE-HH diagnosis is more predictable in those with iron levels higher than those proposed in current guidelines for the general population.
慢性肝病中的铁异常可能是遗传疾病或继发因素导致的。本研究旨在识别HFE-HH患者，以描述临床表现的频率，确定铁升高的危险因素，并比较肝病患者中HFE-HH与其他基因型的铁谱。对108例肝病患者进行了检测，这些患者的转铁蛋白饱和度（TS）>45%，血清铁蛋白（SF）>350 ng/mL，检测其HFE突变情况。分为两组：C282Y/C282Y或C282Y/H63D基因型（n = 16）为HFE遗传性血色素沉着症（HFE-HH）组；C282Y和H63D单杂合子、H63D/H63D基因型和野生型被视为第2组（n = 92）。第2组中，非酒精性肝病、酒精中毒和慢性丙型肝炎的检出率更高，而HFE-HH组的关节病、肝癌、糖尿病和骨质疏松症发生率显著更高。TS>82%、SF>2685 ng/mL和血清铁>178 μg/dL是肝病患者诊断HFE-HH的临界值。因此，在患有慢性肝病的非白种人群中，对于铁水平高于目前一般人群指南所建议水平的患者，HFE-HH诊断更具可预测性。
