Familial Hypercholesterolemia: Screening, diagnosis and management of pediatric and adult patients Clinical guidance from the National Lipid Association Expert Panel on Familial Hypercholesterolemia
Familial Hypercholesterolemia: Screening, diagnosis and management of pediatric and adult patients Clinical guidance from the National Lipid Association Expert Panel on Familial Hypercholesterolemia
复制标题
DOI：
10.1016/j.jacl.2011.04.003
复制
发表时间：
2011-06-01
影响因子：
4.4
通讯作者：
Ziajka, Paul E.
中科院分区：
文献类型：
--
作者：
Goldberg, Anne C.;Hopkins, Paul N.;Ziajka, Paul E.
家族性高胆固醇血症（FH）是一组遗传缺陷导致血液胆固醇水平严重升高和早发冠心病风险增加。FH是最常见的先天性代谢紊乱之一。FH是可治疗的疾病。积极的降脂是必要的，以实现目标LDL胆固醇降低至少50%或更多。对于有其他CHD风险因素的FH患者，可能需要更大的目标LDL胆固醇降低。尽管这种疾病的流行和有效的治疗方案的可用性，FH是诊断和治疗不足，特别是在儿童中。在FH的诊断和治疗中的缺陷表明需要大大提高公众和医疗从业人员对这种疾病的认识和理解。本文件提供了由国家脂质协会家族性高胆固醇血症专家小组制定的儿童和成人FH筛查、诊断和治疗建议。本报告超越了先前发表的指南，为初级保健临床医生和脂质专家提供了具体的临床指导，旨在改善FH患者的护理并降低其CUD风险升高。(C)2011年国家脂质协会。All rights reserved.
The familial hypercholesterolemias (FH) are a group of genetic defects resulting in severe elevations of blood cholesterol levels and increased risk of premature coronary heart disease. FH is among the most commonly occurring congenital metabolic disorders. FH is a treatable disease. Aggressive lipid lowering is necessary to achieve the target LDL cholesterol reduction of at least 50% or more. Even greater target LDL cholesterol reductions may be necessary for FH patients who have other CHD risk factors. Despite the prevalence of this disease and the availability of effective treatment options, FH is both underdiagnosed and undertreated, particularly among children. Deficiencies in the diagnosis and treatment of FH indicate the need for greatly increased awareness and understanding of this disease, both on the part of the public and of healthcare practitioners. This document provides recommendations for the screening, diagnosis and treatment of FH in pediatric and adult patients developed by the National Lipid Association Expert Panel on Familial Hypercholesterolemia. This report goes beyond previously published guidelines by providing specific clinical guidance for the primary care clinician and lipid specialist with the goal of improving care of patients with FH and reducing their elevated risk for CUD. (C) 2011 National Lipid Association. All rights reserved.