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时机已至:在欧洲实现家族性高胆固醇血症儿科筛查——《布拉格宣言》

The time is now: Achieving FH paediatric screening across Europe - The Prague Declaration.

作者信息

Bedlington Nicole, Abifadel Marianne, Beger Birgit, Bourbon Mafalda, Bueno Héctor, Ceska Richard, Cillíková Kristýna, Cimická Zdenka, Daccord Magdalena, de Beaufort Carine, Dharmayat Kanika I, Ference Brian A, Freiberger Tomáš, Geanta Marius, Gidding Samuel S, Grošelj Urh, Halle Martin, Johnson Neil, Novakovic Tanja, Májek Ondrej, Pallidis Athanasios, Peretti Noel, Pinto Fausto J, Ray Kausik Kosh, Rees Bleddyn, Reeve John, Reiner Željko, Santos Raul D, Schunkert Heribert, Šikonja Jaka, Sokolovic Milka, Tokgözoglu Lale, Vrablík Michal, Wiegman Albert, Gutiérrez-Ibarluzea Iñaki

机构信息

FH Europe, Star House, Rochester, UK.

Laboratory of Biochemistry & Molecular Therapeutics, Faculty of Pharmacy, Pôle Technologie-Santé, Saint Joseph University of Beirut, Beirut, Lebanon.

出版信息

GMS Health Innov Technol. 2022 Sep 30;16:Doc04. doi: 10.3205/hta000136. eCollection 2022.

Abstract

Familial hypercholesterolaemia (FH) is the most common inherited metabolic disorder characterized by high cholesterol and if left untreated leads to premature cardiovascular disease, such as heart attacks. Treatment that begins early in life, particularly in childhood, is highly efficacious in preventing cardiovascular disease and cost-effective, thus early detection of FH is crucial. However, in Europe, less than 10% of people living with FH are diagnosed and even less receive life-saving treatment. The Prague Declaration is a call to action for national and European Union policymakers and decision-makers and a result of the Czech EU Presidency meeting on FH Paediatric Screening (early detection of inherited high cholesterol) at the Czech Senate in Prague on 6th September 2022. It builds on a considerable body of evidence which was discussed at the Technical Meeting under the auspices of the Slovenian EU Presidency in October 2021. The Prague meeting addressed the outstanding barriers to the systematic implementation of FH paediatric screening across Europe. In this article, we present the key points from the Prague meeting and concrete actions needed to move forward.

摘要

家族性高胆固醇血症(FH)是最常见的遗传性代谢紊乱疾病,其特征是胆固醇水平高,若不治疗会导致过早出现心血管疾病,如心脏病发作。在生命早期,尤其是儿童时期开始治疗,在预防心血管疾病方面非常有效且具有成本效益,因此早期检测FH至关重要。然而,在欧洲,不到10%的FH患者得到诊断,接受挽救生命治疗的人更少。《布拉格宣言》呼吁欧盟各国及欧盟政策制定者和决策者采取行动,它是2022年9月6日在布拉格捷克参议院举行的捷克担任欧盟轮值主席国期间关于FH儿科筛查(遗传性高胆固醇的早期检测)会议的成果。它基于2021年10月在斯洛文尼亚担任欧盟轮值主席国期间主持召开的技术会议上讨论的大量证据。布拉格会议探讨了在欧洲全面实施FH儿科筛查的突出障碍。在本文中,我们介绍了布拉格会议的要点以及推进所需的具体行动。

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