Washington University Medical School, St. Louis, MO, USA.
J Clin Lipidol. 2011 Jun;5(3 Suppl):S1-8. doi: 10.1016/j.jacl.2011.04.003. Epub 2011 Apr 12.
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 CHD.
家族性高胆固醇血症（FH）是一组遗传性缺陷，导致血液胆固醇水平严重升高，并增加早发冠心病的风险。FH 是最常见的先天性代谢紊乱之一。FH 是一种可治疗的疾病。需要积极降低血脂，以实现 LDL 胆固醇降低至少 50%或更多的目标。对于有其他 CHD 风险因素的 FH 患者，可能需要更大幅度地降低 LDL 胆固醇目标。尽管这种疾病很常见，而且有有效的治疗选择，但 FH 的诊断和治疗不足，尤其是在儿童中。FH 的诊断和治疗不足表明，公众和医疗保健从业者都需要极大地提高对这种疾病的认识和理解。本文件由国家脂质协会 FH 专家组制定，为儿科和成年患者 FH 的筛查、诊断和治疗提供了建议。本报告超越了先前发布的指南，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 患者的治疗，并降低其升高的 CHD 风险。
