Screening for familial hypercholesterolaemia

BMJ 2007; 335 doi: https://doi.org/10.1136/bmj.39335.668646.80 (Published 20 September 2007) Cite this as: BMJ 2007;335:573
  1. Ned Calonge, chair1,
  2. Janelle Guirguis-Blake, clinical assistant professor2
  1. 1US Preventive Services Task Force Program, Rockville, MD 20850, USA
  2. 2Department of Family Medicine, University of Washington, Tacoma, WA 98405, USA
  1. NCalonge{at}smtpgate.dphe.state.co.us

Insufficient evidence exists to support universal screening

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

This proposal is based on their meta-analysis of screening for familial hypercholesterolaemia. This study showed that measuring serum cholesterol in children age 1-9 can detect 88%, 94%, and 96% of cases, with false positive rates of 0.1%, 0.5%, and 1%, respectively.1 Their proposal is based on the ability of the test to detect the disorder with a reasonably high detection rate and a relatively low false positive rate. The authors present no new evidence for the long term health benefits or potential harms of identifying and …

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