Screening for familial hypercholesterolaemia

doi:10.1136/bmj.39335.668646.80

BMJ 2007;335:573-574 (22 September), doi:10.1136/bmj.39335.668646.80

Editorials

Screening for familial hypercholesterolaemia

Insufficient evidence exists to support universal screening

The first 150 words of the full text of this article appear below.

In this week's BMJ, Wald and colleagues propose a universalscreening strategy for familial hypercholesterolaemia.¹ Theysuggest that serum cholesterol should be measured in childrenaged 1-9 years during routine visits to primary care, and thatthose with abnormal total cholesterol (greater than 95th centile)should have genetic tests or clinical investigations to confirmthe diagnosis. A population cascade screening programme couldthen identify the parents of children who screen positive forthe disorder.

This proposal is based on their meta-analysis of screening forfamilial hypercholesterolaemia. This study showed that measuringserum cholesterol in children age 1-9 can detect 88%, 94%, and96% of cases, with false positive rates of 0.1%, 0.5%, and 1%,respectively.¹ Their proposal is based on the ability of thetest to detect the disorder with a reasonably high detectionrate and a relatively low false positive rate. The authors presentno new evidence for . . . [Full text of this article]

Ned Calonge, chair¹, Janelle Guirguis-Blake, clinical assistant professor²

¹ US Preventive Services Task Force Program, Rockville, MD 20850, USA, ² Department of Family Medicine, University of Washington, Tacoma, WA 98405, USA

NCalonge@smtpgate.dphe.state.co.us

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Child-parent screening for familial hypercholesterolaemia: screening strategy based on a meta-analysis: David S Wald, Jonathan P Bestwick, and Nicholas J Wald
BMJ 2007 335: 599. [Abstract] [Full Text] [PDF]