BMJ  2007;335:683 (6 October), doi:10.1136/bmj.39353.483160.BE

Letters

Familial hypercholesterolaemia

Cascade testing is tried and tested and cost effective

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

Wald et al suggest that screening children for high cholesterol at the time of immunisation, and then testing the parents of affected children, is an effective screening method for familial hypercholesterolaemia.¹ However, their paper does not address acceptability or cost effectiveness.

Earlier data from our group showed that universal screening was much less cost effective than cascade testing (family tracing from affected patients). A recent pilot study of cascade testing at five NHS trusts, funded by the Department of Health (www.fhcascade.org.uk), has confirmed cascading to be feasible, cost effective, and acceptable to both patients and clinicians.² Our recommendations to the department include that, because of the degree of overlap in cholesterol concentrations in affected and unaffected individuals, DNA testing is required to underpin a diagnosis of familial hypercholesterolaemia. The use of cholesterol testing as proposed by Wald et al will lead either to many false positive diagnoses in children, causing . . . [Full text of this article]

Department of Cardiovascular Genetics, British Heart Foundation Laboratories, Royal Free and University College Medical School, London WC1E 6JJ

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This article has been cited by other articles:

• Chowdhury, T. A, Hitman, G. A (2009). NICE guidance for identification and treatment of familial hypercholesterolaemia: Commentary 1. Heart 95: 587-589 [Full text]  
• Wald, D. S, Bestwick, J. P, Wald, N. J (2007). Screening needs a fresh approach. BMJ 335: 1007-1008 [Full text]  

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