Hospices Civil de Lyon, Pediatric Hospital Femme Mere Enfant HFME, Department of Pediatric Gastroenterology-Hepatology and Nutrition, Bron, France; Lyon University, Claude Bernard Lyon-1 University, Lyon Est Medical School, Place d'Arsonval, Lyon, France; INSERM, CarMeN laboratory, U1060, Oullins, France.
Real World Evidence, Department of Public Health Expertise, Paris, France.
Arch Pediatr. 2024 Apr;31(3):188-194. doi: 10.1016/j.arcped.2024.01.004. Epub 2024 Mar 27.
Heterozygous familial hypercholesterolemia (HeFH) predisposes to premature cardiovascular diseases. Since 2015, the European Atherosclerosis Society has advocated initiation of statins at 8-10 years of age and a low-density lipoprotein cholesterol (LDL-C) target of <135 mg/dL. Longitudinal data from large databases on pharmacological management of pediatric HeFH are lacking.
Here, we describe treatment patterns and LDL-C goal attainment in pediatric HeFH using longitudinal real-world data.
This was a retrospective and prospective multicenter cohort study (2015-2021) of children with HeFH, diagnosed genetically or clinically, aged <18 years, and followed up in the National French Registry of FH (REFERCHOL). Data on the study population as well as treatment patterns and outcomes are summarized as mean±SD.
We analyzed the data of 674 HeFH children (age at last visit: 13.1 ± 3.6 years; 82.0 % ≥10 years; 52.5 % females) who were followed up for a mean of 2.8 ± 3.5 years. Initiation of lipid-lowering therapy was on average at 11.8 ± 3.0 years of age for a duration of 2.5 ± 2.8 years. At the last visit, among patients eligible for treatment (573), 36 % were not treated, 57.1 % received statins alone, 6.4 % statins with ezetimibe, and 0.2 % ezetimibe alone. LDL-C was 266±51 mg/dL before treatment and 147±54 mg/dL at the last visit (-44.7 %) in treated patients. Regarding statins, 3.3 %, 65.1 %, and 31.6 % of patients received high-, moderate-, and low-intensity statins, respectively. Overall, 59 % of children on statin therapy alone and 35.1 % on bitherapy did not achieve the LDL-C goal; fewer patients in the older age group did not reach the treatment goal.
Pediatric patients with FH followed up in specialist lipid clinics in France receive late treatment, undertreatment, or suboptimal treatment and half of them do not reach the therapeutic LDL-C goal. Finding a more efficient framework for linking scientific evidence to clinical practice is needed.
杂合子家族性高胆固醇血症（HeFH）易导致早发性心血管疾病。自 2015 年以来，欧洲动脉粥样硬化学会提倡在 8-10 岁时开始使用他汀类药物，并将低密度脂蛋白胆固醇（LDL-C）目标值设定为＜135mg/dL。目前缺乏大型数据库中关于儿科 HeFH 药物治疗管理的纵向数据。
本研究使用纵向真实世界数据，描述儿科 HeFH 的治疗模式和 LDL-C 达标情况。
这是一项回顾性和前瞻性多中心队列研究（2015-2021 年），纳入经基因或临床诊断为 HeFH、年龄＜18 岁且在法国 FH 国家注册处（REFERCHOL）接受随访的儿童。总结研究人群的治疗模式和结局数据，用平均值±标准差表示。
我们分析了 674 名 HeFH 患儿的数据（最后一次就诊时的年龄：13.1±3.6 岁；≥10 岁的患儿占 82.0%；女性占 52.5%），他们的平均随访时间为 2.8±3.5 年。降脂治疗的平均起始年龄为 11.8±3.0 岁，持续时间为 2.5±2.8 年。在最后一次就诊时，573 名符合治疗条件的患者中，有 36%未接受治疗，57.1%单独接受他汀类药物治疗，6.4%接受他汀类药物联合依折麦布治疗，0.2%单独接受依折麦布治疗。在接受治疗的患者中，治疗前 LDL-C 为 266±51mg/dL，最后一次就诊时为 147±54mg/dL（降低 44.7%）。在接受他汀类药物治疗的患者中，分别有 3.3%、65.1%和 31.6%接受了高强度、中强度和低强度他汀类药物治疗。总体而言，单独接受他汀类药物治疗的患儿中有 59%和接受双联治疗的患儿中有 35.1%未达到 LDL-C 目标值；年龄较大的患儿中未达到治疗目标的比例较少。
在法国专科脂质诊所接受随访的儿科 HeFH 患者接受治疗较晚、治疗不足或治疗效果欠佳，且有一半患儿未达到治疗的 LDL-C 目标值。需要找到一种更有效的方法将科学证据与临床实践联系起来。
