EASL clinical practice guidelines for HFE hemochromatosis
EASL clinical practice guidelines for HFE hemochromatosis
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DOI：
10.1016/j.jhep.2010.03.001
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发表时间：
2010-07-01
影响因子：
25.7
通讯作者：
Safadi, Rifaat
中科院分区：
文献类型：
--
作者：
Pietrangelo, Antonello;Deugnier, Yves;Safadi, Rifaat
人类铁超载与多种遗传和后天性疾病有关。其中，考虑到流行病学方面以及与铁相关的发病率和死亡率的风险，HFE 血色素沉着症 (HFE-HC) 是迄今为止最常见、最明确的遗传原因。大多数 HFE-HC 患者是 C282Y 多态性纯合子 [1]。如果不进行治疗干预，就有可能发生铁过载，并可能导致组织损伤和疾病。虽然现在可以通过特定的基因检测来诊断 HFE-HC，但定义病例和疾病负担的不确定性以及 C282Y 纯合性的低表型外显率给 HC 患者的治疗带来了许多临床问题。因此，本临床实践指南将重点关注 HFE-HC，而最近归因于转铁蛋白受体 2 (TFR2)、铁调素 (HAMP)、血幼素 (HJV) 致病性突变或铁转运蛋白 (FPN) 突变亚型的较罕见形式的遗传性铁超负荷，由于可用的临床和流行病学数据有限且稀疏，因此将不予考虑。 讨论过。我们制定了 HFE-HC 筛查、诊断和管理的建议。 (C) 2010 年由 Elsevier B.V. 代表欧洲肝脏研究协会出版。
Iron overload in humans is associated with a variety of genetic and acquired conditions. Of these, HFE hemochromatosis (HFE-HC) is by far the most frequent and most well-defined inherited cause when considering epidemiological aspects and risks for iron-related morbidity and mortality. The majority of patients with HFE-HC are homozygotes for the C282Y polymorphism [1]. Without therapeutic intervention, there is a risk that iron overload will occur, with the potential for tissue damage and disease. While a specific genetic test now allows for the diagnosis of HFE-HC, the uncertainty in defining cases and disease burden, as well as the low phenotypic penetrance of C282Y homozygosity poses a number of clinical problems in the management of patients with HC. This Clinical Practice Guideline will therefore, focus on HFE-HC, while rarer forms of genetic iron overload recently attributed to pathogenic mutations of transferrin receptor 2, (TFR2), hepcidin (HAMP), hemojuvelin (HJV), or to a subtype of ferroportin (FPN) mutations, on which limited and sparse clinical and epidemiologic data are available, will not be discussed. We have developed recommendations for the screening, diagnosis, and management of HFE-HC. (C) 2010 Published by Elsevier B.V. on behalf of the European Association for the Study of the Liver.