Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society.
Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society.
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DOI：
10.1093/eurheartj/eht273
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发表时间：
2013-12
影响因子：
39.3
通讯作者：
European Atherosclerosis Society Consensus Panel
中科院分区：
文献类型：
--
作者：
Nordestgaard BG;Chapman MJ;Humphries SE;Ginsberg HN;Masana L;Descamps OS;Wiklund O;Hegele RA;Raal FJ;Defesche JC;Wiegman A;Santos RD;Watts GF;Parhofer KG;Hovingh GK;Kovanen PT;Boileau C;Averna M;Borén J;Bruckert E;Catapano AL;Kuivenhoven JA;Pajukanta P;Ray K;Stalenhoef AF;Stroes E;Taskinen MR;Tybjærg-Hansen A;European Atherosclerosis Society Consensus Panel
第一个目的是批判性地评估家族性高胆固醇血症(FH)被低估和治疗的程度。第二个目的是为FH的筛查和治疗提供指导，以预防冠心病(CHD)。在杂合子FH的理论估计患病率为1/500中，1%在大多数国家被诊断出来。最近，在北欧普通人群中的直接筛查诊断出大约1/200的杂合子FH。所有报道的研究都证明，在FH患者中，有很大一部分人未能达到推荐的低密度脂蛋白胆固醇目标，患CHD的风险增加了13倍。根据1/500到1/200之间的流行率，全世界有1400万到3400万人患有FH。我们建议，如果个人或家庭成员患有FH、成人≥8 mmo1/L(≥310 mg/dL)或儿童≥6 mmo1/L(≥230 mg/dL)的血浆胆固醇水平、过早冠心病、肌腱黄瘤或心脏性猝死，应对儿童、成人和家庭进行FH筛查。在FH患者中，儿童的低密度脂蛋白胆固醇指标为：3.5mmo1/L(<；135 mg/dL)，成人为2.5mmo1/L(<；100 mg/dL)，患有冠心病或糖尿病的成人为1.8mmoL/L(<；70 mg/dL)。除了生活方式和饮食咨询外，治疗的重点是(I)儿童、他汀类药物、依折麦布和胆汁酸结合树脂，以及(Ii)成人最大有效剂量的他汀类药物、依折麦布和胆汁酸结合树脂。脂蛋白分离可在CHD纯合子和难治性杂合子中提供。由于FH的严重诊断不足和治疗不足，全世界迫切需要诊断筛查以及对这种极高风险的疾病进行早期和积极的治疗。
The first aim was to critically evaluate the extent to which familial hypercholesterolaemia (FH) is underdiagnosed and undertreated. The second aim was to provide guidance for screening and treatment of FH, in order to prevent coronary heart disease (CHD). Of the theoretical estimated prevalence of 1/500 for heterozygous FH, <1% are diagnosed in most countries. Recently, direct screening in a Northern European general population diagnosed approximately 1/200 with heterozygous FH. All reported studies document failure to achieve recommended LDL cholesterol targets in a large proportion of individuals with FH, and up to 13-fold increased risk of CHD. Based on prevalences between 1/500 and 1/200, between 14 and 34 million individuals worldwide have FH. We recommend that children, adults, and families should be screened for FH if a person or family member presents with FH, a plasma cholesterol level in an adult ≥8 mmol/L(≥310 mg/dL) or a child ≥6 mmol/L(≥230 mg/dL), premature CHD, tendon xanthomas, or sudden premature cardiac death. In FH, low-density lipoprotein cholesterol targets are <3.5 mmol/L(<135 mg/dL) for children, <2.5 mmol/L(<100 mg/dL) for adults, and <1.8 mmol/L(<70 mg/dL) for adults with known CHD or diabetes. In addition to lifestyle and dietary counselling, treatment priorities are (i) in children, statins, ezetimibe, and bile acid binding resins, and (ii) in adults, maximal potent statin dose, ezetimibe, and bile acid binding resins. Lipoprotein apheresis can be offered in homozygotes and in treatment-resistant heterozygotes with CHD. Owing to severe underdiagnosis and undertreatment of FH, there is an urgent worldwide need for diagnostic screening together with early and aggressive treatment of this extremely high-risk condition.
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影响因子：
39.3
作者：
Chapman MJ;Ginsberg HN;Amarenco P;Andreotti F;Borén J;Catapano AL;Descamps OS;Fisher E;Kovanen PT;Kuivenhoven JA;Lesnik P;Masana L;Nordestgaard BG;Ray KK;Reiner Z;Taskinen MR;Tokgözoglu L;Tybjærg-Hansen A;Watts GF;European Atherosclerosis Society Consensus Panel
通讯作者：
European Atherosclerosis Society Consensus Panel
影响因子：
8.7
作者：
Kraft, HG;Lingenhel, A;Utermann, G
通讯作者：
Utermann, G
影响因子：
105.7
作者：
Marks, D;Wonderling, D;Neil, HAW
通讯作者：
Neil, HAW
影响因子：
24
作者：
Greenland, Philip;Alpert, Joseph S.;Whitman, Gayle R.
通讯作者：
Whitman, Gayle R.
影响因子：
4.4
作者：
Goldberg, Anne C.;Hopkins, Paul N.;Ziajka, Paul E.
通讯作者：
Ziajka, Paul E.