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2014 EAS家族性高胆固醇血症临床管理指南

2014-07-25 MedSci MedSci原创

近日,欧洲动脉粥样硬化学会(EAS)发布了纯合子家族性高胆固醇血症(HoFH)临床管理指南,全文7月22日在线发表于《欧洲心脏杂志》(Eur Heart J)。以下为指南摘要内容。 诊断 指南建议, HoFH的早期诊断并及时启动饮食和降脂治疗至关重要。基因学检测可确诊,但如果不可用,低密度脂蛋白胆固醇(LDL-C)显著升高和<10岁出现皮肤或 肌腱黄色瘤,或者未经处理的LDL

近日,欧洲动脉粥样硬化学会(EAS)发布了纯合子家族性高胆固醇血症(HoFH)临床管理指南,全文7月22日在线发表于《欧洲心脏杂志》(Eur Heart J)。以下为指南摘要内容。

诊断

指南建议, HoFH的早期诊断并及时启动饮食和降脂治疗至关重要。基因学检测可确诊,但如果不可用,低密度脂蛋白胆固醇(LDL-C)显著升高和<10岁出现皮肤或 肌腱黄色瘤,或者未经处理的LDL-C水平升高伴有父母患有杂合子FH也提示患者有HoFH。

治疗

指南推荐,疑为HoFH的患者应及时就诊于专科医师,以综合评估动脉粥样硬化性心血管疾病(ACVD)并进行临床管理。生活方式干预和最大量他汀类药物是治疗主要手段,理想治疗时间是于出生后第一年或初次确诊时,常与依折麦布和其他降脂治疗方法联用。


因患者LDL-C很少能达标,如果可以,推荐辅助脂蛋白单采,最好是于患者5岁时启动,不晚于8岁。Lomitapide和mipomersen可作为新的治疗方法使用。


HoFH治疗方案流程图

随访

鉴于ACVD的严重性,指南推荐常规随访,包括每年进行多普勒超声心动图检查和主动脉检查以及压力测试,如果可以,每5年进行CT冠状动脉造影检查,或如有必要此年限可更短。

原始出处:

Cuchel M, Bruckert E, Ginsberg HN, Raal FJ, Santos RD, Hegele RA, Kuivenhoven JA, Nordestgaard BG, Descamps OS, Steinhagen-Thiessen E, Tybjærg-Hansen A, Watts GF, Averna M, Boileau C, Borén J, Catapano AL, Defesche JC, Hovingh GK, Humphries SE, Kovanen PT, Masana L, Pajukanta P, Parhofer KG, Ray KK, Stalenhoef AF, Stroes E, Taskinen MR, Wiegman A, Wiklund O, Chapman MJ; for the European Atherosclerosis Society Consensus Panel on Familial Hypercholesterolaemia.Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society.Eur Heart J. 2014 Jul 22. pii: ehu274

下载:eurheartj_ehu274_full.pdf

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    2014-07-27 wetgdt

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