Integrating provision of specialist lipid services with cascade testing for familial hypercholesterolaemia

被引：39

作者：

Datta, Borunendra N. ^{[2
]}

McDowell, Ian F. W. ^{[1
,2
]}

Rees, Alan ^{[1
,2
]}

机构：

[1] Cardiff Univ, Univ Wales Hosp, Cardiff CF14 4XW, S Glam, Wales

[2] Cardiff & Vale Univ Hlth Board, Cardiff, S Glam, Wales

来源：

CURRENT OPINION IN LIPIDOLOGY | 2010年 / 21卷 / 04期

关键词：

NETHERLANDS; DISEASE;

D O I：

10.1097/MOL.0b013e32833c14e2

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Purpose of review To highlight the unmet need for identifying individuals with familial hypercholesterolaemia and exploring the implications that this will have for local and national healthcare services. Recent findings A pathway utilising DNA testing for the diagnosis of familial hypercholesterolaemia, and subsequent cascade testing has been developed in Wales. Summary Undiagnosed familial hypercholesterolaemia carries a high risk of cardiovascular disease, which is easily preventable with pharmacotherapy, if individuals are appropriately diagnosed, and affected family members identified. The use of DNA testing is cost-effective and allows for efficient cascade testing. This has implications for local services and highlights unmet educational and clinical requirements in clinical lipidology.

引用

页码：366 / 371

页数：6

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