家族性高胆固醇血症(FH)是早产儿冠心病(CHD)的常见遗传原因。全球每分钟就有一例FH婴儿出生。如果在儿童早期阶段进行诊断和治疗，FH个体可有正常人的预期寿命。5月25日，《欧洲心脏杂志》(Eur Heart J)刊文阐述了FH的早期检测和管理策略。

FH的诊断

文章指出，可通过表型标准和/或遗传诊断或基因检测来诊断FH，前者包括低密度脂蛋白胆固醇(LDL-C)水平联合LDL-C升高的家族史以及早产儿存在冠心病来综合判断。儿童期是利用LDL-C筛查手段识别FH和非FH的最佳时期。LDL-C ≥5 mmol/L (190 mg/dL)，或LDL-C ≥4 mmol/L (160 mg/dL)合并早产儿CHD和/或父母亲一方存在高基线胆固醇水平的家族史，即可做出FH的表型诊断。如果父母一方有遗传缺陷，则儿童LDL-C的临界值为≥3.5 mmol/L (130 mg/dL)。研究者们建议，用表型联合基因诊断方法进行家庭级联筛查;儿童从5岁时进行相关检测，如果疑为纯合子FH则应更早检测。

FH的治疗

杂合子FH的管理以健康生活方式和他汀类药物治疗(从8至10岁)为基础。10岁以上儿童的LDL-C目标值为<3.5 mmol/L (130 mg/dL);对于8至10岁的儿童，理想状态为基线LDL-C水平降低50%;特别是对那些LDL-C水平极高，脂蛋白(a)升高，有早产儿CHD家族史或存在其他心血管危险因素的患者，需权衡治疗副作用的长期风险。

预后

早期识别和进行降LDL-C的最佳治疗可减少累积LDL-C负担，并给患者带来健康和社会经济学的益处。增加对FH的认识和早期诊断以及从儿童期即进行最佳的治疗，这些对增加FH儿童和成人患者的健康寿命至关重要。研究者最后呼吁，在年轻人进行进一步的研究，以便及时检测和管理FH。

参考文献：Albert Wiegman ,et al. Eur Heart J. First published online: 25 May 2015. DOI: http://dx.doi.org/10.1093/eurheartj/ehv157

Familial hypercholesterolaemia in children and adolescents: gaining decades of life by optimizing detection and treatment

Abstract
Familial hypercholesterolaemia (FH) is a common genetic cause of premature coronary heart disease (CHD). Globally, one baby is born with FH every minute. If diagnosed and treated early in childhood, individuals with FH can have normal life expectancy. This consensus paper aims to improve awareness of the need for early detection and management of FH children.
Familial hypercholesterolaemia is diagnosed either on phenotypic criteria, i.e. an elevated low-density lipoprotein cholesterol (LDL-C) level plus a family history of elevated LDL-C, premature coronary artery disease and/or genetic diagnosis, or positive genetic testing. Childhood is the optimal period for discrimination between FH and non-FH using LDL-C screening. An LDL-C ≥5 mmol/L (190 mg/dL), or an LDL-C ≥4 mmol/L (160 mg/dL) with family history of premature CHD and/or high baseline cholesterol in one parent, make the phenotypic diagnosis. If a parent has a genetic defect, the LDL-C cut-off for the child is ≥3.5 mmol/L (130 mg/dL). We recommend cascade screening of families using a combined phenotypic and genotypic strategy. In children, testing is recommended from age 5 years, or earlier if homozygous FH is suspected.
A healthy lifestyle and statin treatment (from age 8 to 10 years) are the cornerstones of management of heterozygous FH. Target LDL-C is <3.5 mmol/L (130 mg/dL) if >10 years, or ideally 50% reduction from baseline if 8–10 years, especially with very high LDL-C, elevated lipoprotein(a), a family history of premature CHD or other cardiovascular risk factors, balanced against the long-term risk of treatment side effects. Identifying FH early and optimally lowering LDL-C over the lifespan reduces cumulative LDL-C burden and offers health and socioeconomic benefits. To drive policy change for timely detection and management, we call for further studies in the young. Increased awareness, early identification, and optimal treatment from childhood are critical to adding decades of healthy life for children and adolescents with FH.