期刊
CURRENT OPINION IN LIPIDOLOGY
卷 23, 期 4, 页码 282-289出版社
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1097/MOL.0b013e3283556c33
关键词
cascade screening; familial hypercholesterolemia; genetic testing; universal screening
资金
- National Institutes of Health [NIH T32 DK 007120]
- Amarin
- Abbott
- ISIS/Genzyme
- Regeneron/Sanofi-Aventis
- Merck
- GlaxoSmith-Kline
- Genentech
Purpose of review Familial hypercholesterolemia is an underdiagnosed autosomal codominant genetic condition associated with significantly increased risk of early cardiovascular disease when untreated. Early diagnosis and treatment decrease the excess risk, and strategies for identification of affected individuals are being developed worldwide. This review will discuss, from a clinician's perspective, some of the issues involved in identifying people with familial hypercholesterolemia. Recent findings Several sets of recommendations have been published outlining the strategies for identification of people with familial hypercholesterolemia in various countries and regions. These include Australasia, Europe, and the USA. Summary Continuing efforts to find the best methods for identification of people with familial hypercholesterolemia are needed to ensure that this very treatable inherited condition is diagnosed early enough to prevent the development of atherosclerotic vascular disease.
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