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[纯合子家族性高胆固醇血症:欧洲动脉粥样硬化学会家族性高胆固醇血症共识小组立场文件的西班牙文改编版。西班牙动脉硬化学会(SEA)和家族性高胆固醇血症基金会(FHF)的共识文件]

[Homozygous familial hypercholesterolaemia: Spanish adaptation of the position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society. Consensus document of the Spanish Society of Arteriosclerosis (SEA) and Familial Hypercholesterolaemia Foundation (FHF)].

作者信息

Ascaso Juan F, Mata Pedro, Arbona Cristina, Civeira Fernando, Valdivielso Pedro, Masana Luis

机构信息

Sociedad Española de Arteriosclerosis. Servicio de Endocrinología y Nutrición, Hospital Clínico Universitario de Valencia, INCLIVA, Universitat de València, Valencia, España.

Fundación Hipercolesterolemia Familiar, Madrid, España.

出版信息

Clin Investig Arterioscler. 2015 Mar-Apr;27(2):80-96. doi: 10.1016/j.arteri.2015.01.002. Epub 2015 Mar 8.

Abstract

Homozygous familial hypercholesterolaemia (HoFH) is a rare life-threatening disease characterized by markedly elevated circulating levels of low-density lipoprotein cholesterol (LDL-C) and accelerated, premature atherosclerotic cardiovascular disease (ACVD). The Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society (EAS) has recently published a clinical guide to diagnose and manage HoFH (Eur Heart J. 2014;35:2146-57). Both the Spanish Society of Atherosclerosis (SEA) and Familial Hypercholesterolaemia Foundation (FHF) consider this European Consensus document of great value and utility. However, there are particularities in our country which advise to have a Spanish adaptation of the European HoFH document in order to approximate this clinical guide to our environment. In Spain, chronic treatment with statins, ezetimibe and resins (colesevelam) has a reduced contribution in the National Health System (NHS) and is one of the few European countries where LDL apheresis is included in the Basic Service Portfolio coverage. This Spanish document also includes clinical experience in the management of these patients in our country. The Drafting Committee emphasizes the need for early identification of HoFH patients, prompt referral to specialized units, and an early and appropriate treatment. These recommendations will provide a guidance for HoFH patient management in Spain.

摘要

纯合子家族性高胆固醇血症(HoFH)是一种罕见的危及生命的疾病,其特征是循环中的低密度脂蛋白胆固醇(LDL-C)水平显著升高,以及加速性、早发性动脉粥样硬化性心血管疾病(ACVD)。欧洲动脉粥样硬化学会(EAS)家族性高胆固醇血症共识小组最近发表了一份关于HoFH诊断和管理的临床指南(《欧洲心脏杂志》。2014年;35:2146 - 57)。西班牙动脉粥样硬化学会(SEA)和家族性高胆固醇血症基金会(FHF)都认为这份欧洲共识文件具有很高的价值和实用性。然而,我国存在一些特殊性,建议对欧洲HoFH文件进行西班牙文改编,以便使这份临床指南更贴近我国的实际情况。在西班牙,他汀类药物、依折麦布和树脂类药物(考来维仑)的长期治疗在国家卫生系统(NHS)中的贡献较小,并且西班牙是少数几个将低密度脂蛋白单采纳入基本服务组合覆盖范围的欧洲国家之一。这份西班牙文件还纳入了我国对这些患者管理的临床经验。起草委员会强调需要早期识别HoFH患者,及时转诊至专科单位,并进行早期且适当的治疗。这些建议将为西班牙HoFH患者的管理提供指导。

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