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  • 标题:Screening for Familial Hypercholesterolemia in Children: What Can We Learn From Adult Screening Programs?
  • 本地全文:下载
  • 作者:Lidewij Henneman ; Colleen M. McBride
  • 期刊名称:Healthcare
  • 电子版ISSN:2227-9032
  • 出版年度:2015
  • 卷号:3
  • 期号:4
  • 页码:1018-1030
  • DOI:10.3390/healthcare3041018
  • 语种:English
  • 出版社:MDPI Publishing
  • 摘要: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.
  • 关键词:population screening; familial hypercholesterolemia; prevention; genetic testing; pediatrics; public health genomics population screening ; familial hypercholesterolemia ; prevention ; genetic testing ; pediatrics ; public health genomics
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