Martin Andrew C, Gidding Samuel S, Wiegman Albert, Watts Gerald F
Princess Margaret Hospital for Children, Perth, Western Australia, Australia.
Nemours Cardiac Center, A. I. duPont Hospital for Children, Wilmington, DE.
J Lipid Res. 2017 Sep;58(9):1765-1776. doi: 10.1194/jlr.S074039. Epub 2017 Jul 12.
Familial hypercholesterolemia (FH) is a common genetic disorder that causes elevated LDL cholesterol levels from birth. Untreated FH accelerates atherosclerosis and predisposes individuals to premature coronary artery disease (CAD) in adulthood. Mendelian randomization studies have demonstrated that LDL cholesterol has both a causal and cumulative effect on the risk of CAD. This supports clinical recommendations that children with FH commence pharmacological treatment from the age of 8 to 10 years, to reduce the burden of hypercholesterolemia. Worldwide, the majority of children with FH remain undiagnosed. Recent evidence suggests that the frequency of FH is at least 1 in 250 and this constitutes a public health issue. We review and identify the knowns and unknowns concerning the detection and management of pediatric FH that impact on the developing model of care for this condition.
家族性高胆固醇血症（FH）是一种常见的遗传性疾病，自出生起就会导致低密度脂蛋白胆固醇（LDL-C）水平升高。未经治疗的FH会加速动脉粥样硬化，并使个体在成年期易患早发性冠状动脉疾病（CAD）。孟德尔随机化研究表明，LDL-C对CAD风险具有因果关系和累积效应。这支持了临床建议，即FH患儿应从8至10岁开始进行药物治疗，以减轻高胆固醇血症的负担。在全球范围内，大多数FH患儿仍未被诊断出来。最近的证据表明，FH的发病率至少为1/250，这构成了一个公共卫生问题。我们回顾并确定了有关儿童FH检测和管理的已知和未知因素，这些因素会影响针对该疾病的护理发展模式。
