家族性高膽固醇血症(FH)是早產兒冠心病(CHD)的常見遺傳原因。全球每分鍾就有一例FH嬰兒出生。如果在兒童早期階段進行診斷和治療，FH個體可有正常人的預期壽命。5月25日，《歐洲心髒雜誌》(Eur Heart J)刊文闡述了FH的早期檢測和管理策略。

FH的診斷

文章指出，可通過表型標準和/或遺傳診斷或基因檢測來診斷FH，前者包括低密度脂蛋白膽固醇(LDL-C)水平聯合LDL-C升高的家族史以及早產兒存在冠心病來綜合判斷。兒童期是利用LDL-C篩查手段識別FH和非FH的最佳時期。LDL-C ≥5 mmol/L (190 mg/dL)，或LDL-C ≥4 mmol/L (160 mg/dL)合並早產兒CHD和/或父母親一方存在高基線膽固醇水平的家族史，即可做出FH的表型診斷。如果父母一方有遺傳缺陷，則兒童LDL-C的臨界值為≥3.5 mmol/L (130 mg/dL)。研究者們建議，用表型聯合基因診斷方法進行家庭級聯篩查;兒童從5歲時進行相關檢測，如果疑為純合子FH則應更早檢測。

FH的治療

雜合子FH的管理以健康生活方式和他汀類藥物治療(從8至10歲)為基礎。10歲以上兒童的LDL-C目標值為<3.5 mmol/L (130 mg/dL);對於8至10歲的兒童，理想狀態為基線LDL-C水平降低50%;特別是對那些LDL-C水平極高，脂蛋白(a)升高，有早產兒CHD家族史或存在其他心血管危險因素的患者，需權衡治療副作用的長期風險。

預後

早期識別和進行降LDL-C的最佳治療可減少累積LDL-C負擔，並給患者帶來健康和社會經濟學的益處。增加對FH的認識和早期診斷以及從兒童期即進行最佳的治療，這些對增加FH兒童和成人患者的健康壽命至關重要。研究者最後呼籲，在年輕人進行進一步的研究，以便及時檢測和管理FH。

參考文獻：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.