背景:杂合子家族性高胆固醇血症(HeFH)易导致早发心血管疾病。自2015年以来,欧洲动脉粥样硬化协会提倡在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)的目标定为<135mg/dL。缺乏来自大型数据库的儿科HeFH药理管理的纵向数据。
目标:这里,我们使用纵向真实世界数据描述儿科HeFH的治疗模式和LDL-C目标达成情况.
方法:这是一项针对HeFH儿童的回顾性和前瞻性多中心队列研究(2015-2021年),基因或临床诊断,年龄<18岁,并在法国国家FH登记处(REFERCHOL)进行了跟进。研究人群以及治疗模式和结果的数据总结为平均值±SD。
结果:我们分析了674名HeFH儿童(上次就诊年龄:13.1±3.6岁;82.0%≥10岁;52.5%的女性)的数据,随访平均2.8±3.5年。平均在11.8±3.0岁时开始降脂治疗,持续时间为2.5±2.8年。在最后一次访问中,在有资格接受治疗的患者中(573),36%的人没有接受治疗,57.1%单独接受他汀类药物,6.4%他汀类药物与依泽替米贝,和仅0.2%的依泽替米贝。治疗前LDL-C为266±51mg/dL,最后一次就诊时LDL-C为147±54mg/dL(-44.7%)。关于他汀类药物,3.3%,65.1%,31.6%的患者接受了高,moderate-,和低强度他汀类药物,分别。总的来说,59%的单独使用他汀类药物治疗的儿童和35.1%的双药治疗的儿童没有达到LDL-C目标;在老年组没有达到治疗目标的患者较少。
结论:在法国专科脂质诊所随访的FH患儿接受晚期治疗,治疗不足,或次优治疗,其中一半未达到治疗性LDL-C目标。需要找到一个将科学证据与临床实践联系起来的更有效的框架。
BACKGROUND: 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.
OBJECTIVE: Here, we describe treatment patterns and LDL-C goal attainment in pediatric HeFH using longitudinal real-world data.
METHODS: 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.
RESULTS: 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.
CONCLUSIONS: 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.