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欧洲儿童家族性高胆固醇血症筛查:公共政策背景与建议

Paediatric familial hypercholesterolaemia screening in Europe: public policy background and recommendations.

作者信息

Gidding Samuel S, Wiegman Albert, Groselj Urh, Freiberger Tomas, Peretti Noel, Dharmayat Kanika I, Daccord Magdalena, Bedlington Nicola, Sikonja Jaka, Ray Kausik K, Santos Raul D, Halle Martin, Tokgözoğlu Lale, Gutiérrez-Ibarluzea Iñaki, Pinto Fausto J, Geanta Marius

机构信息

The European FH Patient Network (FH Europe), Star House, Star Hill, Rochester, Kent ME1 1UX, UK.

Department of Paediatrics, Amsterdam University Medical Centers, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.

出版信息

Eur J Prev Cardiol. 2022 Dec 21;29(18):2301-2311. doi: 10.1093/eurjpc/zwac200.

Abstract

Familial hypercholesterolaemia (FH) is under-recognized and under-treated in Europe leading to significantly higher risk for premature heart disease in those affected. As treatment beginning early in life is highly effective in preventing heart disease and cost-effective in these patients, screening for FH is crucial. It has therefore now been recognized by the European Commission Public Health Best Practice Portal as an effective strategy. Model programmes exist in Europe to identify young individuals with FH, which are based on cascade screening of first-degree relatives of affected individuals, universal screening for high cholesterol, opportunistic screening of high-risk individuals, or a combination of the above approaches. Recommendations presented herein to improve identification of FH emphasize that every country should have an FH screening programme. These programmes should be adapted from existing strategies to best fit the individual country's healthcare system, governments should provide financial support for these programmes and related care, and further research to optimize care and implementations should be conducted.

摘要

家族性高胆固醇血症(FH)在欧洲未得到充分认识和治疗,这导致患者患早发性心脏病的风险显著更高。由于早期开始治疗对预防心脏病非常有效且具有成本效益,因此对FH进行筛查至关重要。因此,它现在已被欧盟委员会公共卫生最佳实践门户网站确认为一种有效策略。欧洲有一些示范项目来识别患有FH的年轻人,这些项目基于对受影响个体的一级亲属进行级联筛查、对高胆固醇进行普遍筛查、对高危个体进行机会性筛查或上述方法的组合。本文提出的改善FH识别的建议强调,每个国家都应制定FH筛查计划。这些计划应根据现有策略进行调整,以最适合个别国家的医疗保健系统,政府应为这些计划和相关护理提供财政支持,并应进行进一步研究以优化护理和实施。

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