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The British Journal of Diabetes & Vascular Disease
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Cascade screening for familial hypercholesterolaemia and its effectiveness in the prevention of vascular disease

Katherine Herman

Clinical Laboratories, University Hospital Aintree, Liverpool, UK

Charles Van Heyningen

Clinical Laboratories, University Hospital Aintree, Liverpool, UK, charles.vanheyningen{at}aintree.nhs.uk

David Wile

Clinical Laboratories, University Hospital Aintree, Liverpool, UK

We describe cascade screening for familial hypercholesterolaemia (FH) and review the evidence for its effectiveness. We consider how it will be implemented into primary and secondary care, its potential advantages and disadvantages, and how it will help to prevent myocardial infarctions in patients with FH. Evidence from European countries and the recent pilot study in the UK show cascade screening for FH to be highly effective by facilitating early identification of many new patients. Treatment to lower cholesterol, if started early, is likely to lead to reductions in cardiovascular events. There are shortcomings in the current care of patients with FH and these should be addressed with the implementation of the new guidelines. To reduce the premature cardiovascular events seen in FH new healthcare infrastructures need to be in place and more education provided for both patients and professionals.

Br J Diabetes Vasc Dis 2009;9:171—174

Key Words: cascade screening • familial hypercholesterolaemia • genetic lipid disorders • screening.

The British Journal of Diabetes & Vascular Disease, Vol. 9, No. 4, 171-174 (2009)
DOI: 10.1177/1474651409339989
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