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儿科家族性高胆固醇血症患儿管理的临床方法:LIPIGEN 儿科组进行的全国性调查。

Clinical Approach in the Management of Paediatric Patients with Familial Hypercholesterolemia: A National Survey Conducted by the LIPIGEN Paediatric Group.

机构信息

Clinical Service for Dyslipidaemias, Study and Prevention of Atherosclerosis in Childhood, Paediatrics Unit, ASST-Santi Paolo e Carlo, 20142 Milan, Italy.

Fondazione SISA (Società Italiana per lo Studio dell'Aterosclerosi), 20133 Milan, Italy.

出版信息

Nutrients. 2023 Aug 5;15(15):3468. doi: 10.3390/nu15153468.

Abstract

Detection and treatment of patients with familial hypercholesterolemia (FH) starting from childhood is fundamental to reduce morbidity and mortality. The activity of National realities such as the LIPIGEN (LIpid transPort disorders Italian GEnetic Network) Paediatric Group, founded in 2018, is a milestone in this context. The aim of this exploratory survey, conducted in October 2021 among Italian lipid clinics included in the LIPIGEN Paediatric Group, was to investigate the current clinical approach in the management and treatment of paediatric patients with suspected FH. A digital questionnaire composed of 20 questions investigating nutritional treatment and nutraceutical and pharmacological therapy for children and adolescents with FH was proposed to the principal investigators of 30 LIPIGEN centres. Twenty-four centres responded to the section referring to children aged < 10 years and 30 to that referring to adolescents. Overall, 66.7% of children and 73.3% of adolescents were given lipid-lowering nutritional treatment as the first intervention level for at least 3-4 months (29.2% and 23.3%) or 6-12 months (58.3% and 53.3%). Nutraceuticals were considered in 41.7% (regarding children) and 50.0% (regarding adolescents) of the centres as a supplementary approach to diet. Lipid-lowering drug therapy initiation was mainly recommended (91.7% and 80.0%). In 83.3% of children and 96.7% of adolescents, statins were the most frequently prescribed drug. We highlighted several differences in the treatment of paediatric patients with suspected FH among Italian centres; however, the overall approach is in line with the European Atherosclerosis Society (EAS) recommendations for FH children and adolescents. We consider this survey as a starting point to reinforce collaboration between LIPIGEN centres and to elaborate in the near future a consensus document on the management of paediatric patients with suspected FH so as to improve and uniform detection, management, and treatment of these patients in our country.

摘要

从儿童期开始检测和治疗家族性高胆固醇血症(FH)对于降低发病率和死亡率至关重要。成立于 2018 年的 LIPIGEN(意大利脂质转运障碍遗传网络)儿科组等国家机构的活动在这方面是一个里程碑。本探索性调查于 2021 年 10 月在 LIPIGEN 儿科组纳入的意大利脂质诊所中进行,旨在调查目前管理和治疗疑似 FH 的儿科患者的临床方法。向 30 个 LIPIGEN 中心的主要研究者提出了一份由 20 个问题组成的数字问卷,调查儿童和青少年 FH 的营养治疗和营养保健品及药理学治疗。24 个中心回答了关于 10 岁以下儿童的部分,30 个中心回答了关于青少年的部分。总体而言,66.7%的儿童和 73.3%的青少年接受了降脂营养治疗,作为至少 3-4 个月(29.2%和 23.3%)或 6-12 个月(58.3%和 53.3%)的第一干预水平。41.7%(针对儿童)和 50.0%(针对青少年)的中心认为营养保健品是饮食的补充方法。降脂药物治疗的启动主要被推荐(91.7%和 80.0%)。83.3%的儿童和 96.7%的青少年最常开的药物是他汀类药物。我们强调了意大利中心在疑似 FH 儿科患者治疗方面的几个差异;然而,整体方法符合欧洲动脉粥样硬化学会(EAS)对 FH 儿童和青少年的建议。我们认为这项调查是加强 LIPIGEN 中心之间合作的起点,并在不久的将来制定一份关于疑似 FH 儿科患者管理的共识文件,以改善和统一我们国家这些患者的检测、管理和治疗。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8e76/10420921/4b386b525bba/nutrients-15-03468-g001.jpg

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