Familial hypercholesterolaemia

Screening needs a fresh approach

BMJ 2007; 335 doi: 10.1136/bmj.39395.370278.80 (Published 15 November 2007)
Cite this as: BMJ 2007;335:1007.2

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  1. David S Wald, senior lecturer,
  2. Jonathan P Bestwick, statistician,
  3. Nicholas J Wald, professor
  1. Wolfson Institute of Preventive Medicine, Barts and the London School of Medicine and Dentistry, London EC1M 6BQ
  1. d.s.wald{at}qmul.ac.uk

    Hadfield and Humphries favour cascade testing for familial hypercholesterolaemia (identifying relatives of affected individuals)1 over the child-parent screening approach2 but accept that cascade testing may only identify 50% of affected cases in the population. Cascade testing may have been “tried and tested” and found to be useful in identifying cases of familial hypercholesterolaemia within families, but it is not tried and tested as a general screening policy.3 Identifying all, or most, families first is …

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