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儿童家族性高胆固醇血症的筛查:我们能从成人筛查项目中学到什么?

Screening for Familial Hypercholesterolemia in Children: What Can We Learn From Adult Screening Programs?

作者信息

Henneman Lidewij, McBride Colleen M, Cornel Martina C, Duquette Debra, Qureshi Nadeem

机构信息

Department of Clinical Genetics, Section of Community Genetics, EMGO Institute for Health and Care Research, VU University Medical Center, P.O. Box 7057, Amsterdam 1007 MB, The Netherlands.

Department of Behavioral Sciences and Health Education, Rollins School of Public Health, Emory University, Atlanta, GA 30322, USA.

出版信息

Healthcare (Basel). 2015 Oct 26;3(4):1018-30. doi: 10.3390/healthcare3041018.

Abstract

Familial hypercholesterolemia (FH), an autosomal dominant atherosclerotic disease, is a common monogenic subtype of cardiovascular disease. Patients with FH suffer an increased risk of early onset heart disease. Early identification of abnormally elevated cholesterol signpost clinicians to interventions that will significantly decrease risk of related morbidity and mortality. Cascade genetic testing can subsequently identify at-risk relatives. Accordingly, a number of screening approaches have been implemented for FH in countries including the UK and the Netherlands. However, incomplete identification of cases remains a challenge. Moreover, the potential for early intervention is now raising questions about the value of implementing universal cholesterol screening approaches that focus on children. In this report, we briefly discuss the potential benefit of such screening. Additionally, we submit that ever increasing genome technological capability will force a discussion of including genetic tests in these screening programs. We discuss the opportunities and challenges presented by such an approach. We close with recommendations that the success of such screening endeavors will rely on a better integrated practice model in public health genomics that bridges stakeholders including practitioners in primary care, clinical genetics and public health.

摘要

家族性高胆固醇血症(FH)是一种常染色体显性遗传的动脉粥样硬化疾病,是心血管疾病常见的单基因亚型。FH患者患早发性心脏病的风险增加。早期识别异常升高的胆固醇可为临床医生指明方向,采取干预措施可显著降低相关发病和死亡风险。级联基因检测随后可识别有风险的亲属。因此,包括英国和荷兰在内的一些国家已针对FH实施了多种筛查方法。然而,病例识别不完全仍是一项挑战。此外,早期干预的可能性现在引发了关于实施以儿童为重点的普遍胆固醇筛查方法的价值的质疑。在本报告中,我们简要讨论了此类筛查的潜在益处。此外,我们认为,不断提高的基因组技术能力将促使人们讨论在这些筛查项目中纳入基因检测。我们讨论了这种方法带来的机遇和挑战。最后,我们建议,此类筛查工作的成功将依赖于公共卫生基因组学中一种更好的综合实践模式,该模式能将包括初级保健从业者、临床遗传学和公共卫生领域的从业者在内的利益相关者联系起来。

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