Amsterdam UMC location University of Amsterdam, Paediatrics, Meibergdreef 9, 1105 AZ Amsterdam, Netherlands; Amsterdam UMC location University of Amsterdam, Epidemiology and Data Science, Meibergdreef 9, 1105 AZ Amsterdam, Netherlands.
Amsterdam UMC location University of Amsterdam, Paediatrics, Meibergdreef 9, 1105 AZ Amsterdam, Netherlands.
J Clin Lipidol. 2023 May-Jun;17(3):415-419. doi: 10.1016/j.jacl.2023.03.010. Epub 2023 Apr 1.
Homozygous familial hypercholesterolaemia (HoFH) is a life-threatening disorder characterized by extremely elevated low-density lipoprotein cholesterol (LDL-C) levels. Untreated, severe atherosclerotic cardiovascular disease (ASCVD), including aortic valve stenosis (AVS), may already occur in childhood. Another important genetic risk factor for ASCVD and AVS is elevated lipoprotein(a) [Lp(a)], which is highly prevalent in the general paediatric population. However, data on Lp(a) in children with HoFH are scarce. Therefore, we performed a cross-sectional study to evaluate Lp(a) levels in children with HoFH and compared them to children with heterozygous FH (HeFH) and unaffected children. Adjusted least-square mean (95% CI) Lp(a) levels in HoFH (n=29), HeFH (n=101) and unaffected children (n=102) were 18.7 (12.0-29.1), 15.3 (11.8-19.8) and 10.5 (8.3-13.2) mg/dL, respectively (p-for-trend=0.007). Lp(a) levels in children with HoFH were higher than in children with HeFH and in unaffected children. Given the very high ASCVD risk with HoFH, identifying other risk factors such as elevated Lp(a) in these children is important. Therefore, Lp(a) levels should be measured at least once in all children with HoFH.
家族性高胆固醇血症（HoFH）是一种危及生命的疾病，其特征是低密度脂蛋白胆固醇（LDL-C）水平极高。未经治疗，严重的动脉粥样硬化性心血管疾病（ASCVD），包括主动脉瓣狭窄（AVS），可能在儿童时期就已经发生。脂蛋白（a）[Lp(a)]升高也是 ASCVD 和 AVS 的另一个重要遗传风险因素，在普通儿科人群中 Lp(a) 水平普遍较高。然而，HoFH 患儿的 Lp(a)数据稀缺。因此，我们进行了一项横断面研究，评估 HoFH 患儿的 Lp(a)水平，并将其与杂合子 FH（HeFH）患儿和无影响患儿进行比较。HoFH（n=29）、HeFH（n=101）和无影响儿童（n=102）的调整最小二乘均值（95%CI）Lp(a)水平分别为 18.7（12.0-29.1）、15.3（11.8-19.8）和 10.5（8.3-13.2）mg/dL（p 趋势=0.007）。HoFH 患儿的 Lp(a)水平高于 HeFH 患儿和无影响患儿。鉴于 HoFH 的 ASCVD 风险极高，在这些患儿中确定其他风险因素，如升高的 Lp(a)水平非常重要。因此，应至少在所有 HoFH 患儿中测量一次 Lp(a)水平。
