Screening for hemochromatosis in asymptomatic subjects with or without a family history
Screening for hemochromatosis in asymptomatic subjects with or without a family history
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DOI：
10.1001/archinte.166.3.294
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发表时间：
2006-02-13
影响因子：
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通讯作者：
Bassett, ML
中科院分区：
文献类型：
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作者：
Powell, LW;Dixon, JL;Bassett, ML
背景：白色人的血色病主要是由于HFE中常见的C282 Y置换的纯合性。虽然临床症状是可以预防的遗传易感性和预防性治疗的早期检测，人口普查目前不提倡，因为常见的突变患病率和明显较低的频率之间的差异，临床疾病。本研究比较了筛选血色素沉着症的受试者或没有家族history.Methods：我们评估了疾病的临床评价和肝活检的表达，在672个基本上无症状的C282 Y纯合子受试者确定的家庭筛选或健康检查。我们还观察到一个亚组的未处理的纯合子与正常血清铁蛋白水平长达24 years.Results：肝铁超载和纤维化的患病率是可比的两组之间。与疾病相关的疾病在健康检查确定的男性受试者中更常见，但他们年龄较大。男性和女性受试者中分别有56%和34.5%存在肝铁过载（2 - 4级）; 18.4%和5.4%存在肝纤维化（2-4期）; 5.6%和1.9%存在肝硬化。肝纤维化和肝硬化与肝脏铁浓度显著相关，除肝硬化病例外，放血后平均纤维化评分降低7.5倍。所有受试者肝硬化是symptomatic.Conclusions：血色素沉着症的筛选在明显健康的受试者C282 Y突变纯合子或无家族史揭示了可比水平的肝铁超载和疾病。显著的肝纤维化常见于无症状的血色素沉着症患者，除存在肝硬化外，可通过除铁逆转。
Background: Hemochromatosis in white subjects is mostly due to homozygosity for the common C282Y substitution in HFE. Although clinical symptoms are preventable by early detection of the genetic predisposition and prophylactic treatment, population screening is not currently advocated because of the discrepancy between the common mutation prevalence and apparently lower frequency of clinical disease. This study compared screening for hemochromatosis in subjects with or without a family history.Methods: We assessed disease expression by clinical evaluation and liver biopsy in 672 essentially asymptomatic C282Y homozygous subjects identified by either family screening or health checks. We also observed a subgroup of untreated homozygotes with normal serum ferritin levels for up to 24 years.Results: Prevalence of hepatic iron overload and fibrosis were comparable between the 2 groups. Disease-related conditions were more common in male subjects identified by health checks, but they were older. Hepatic iron overload (grades 2-4) was present in 56% and 34.5% of male and female subjects, respectively; hepatic fibrosis (stages 2-4) in 18.4% and 5.4%; and cirrhosis in 5.6% and 1.9%. Hepatic fibrosis and cirrhosis correlated significantly with the hepatic iron concentration, and except in cases of cirrhosis, there was a 7.5-fold reduction in the mean fibrosis score after phlebotomy. All subjects with cirrhosis were asymptomatic.Conclusions: Screening for hemochromatosis in apparently healthy subjects homozygous for the C282Y mutation with or without a family history reveals comparable levels of hepatic iron overload and disease. Significant hepatic fibrosis is frequently found in asymptomatic subjects with hemochromatosis and, except when cirrhosis is present, is reversed by iron removal.