Cost-effective familial hypercholesterolaemia screening

21 September 2007

In a rapid response to the previously reported publication by Wald et al proposing population screening of children for FH, familial hypercholesterolaemia (see previous news), Humphries and Hadfield, whilst agreeing that it is desirable to “find more patients with this life- threatening but treatable disorder”, have affirmed some of the potential problems of such an approach, including cost-efficacy and consent [Humphries SE, Hadfield G (2007) BMJ September 14]. They report the results of their recent pilot of cascade testing, funded by the Department of Health, which found that cascade testing was feasible, desirable, cost-effective and acceptable to patients and clinicians. Recommendations based on this pilot are said to be that implementation would require:

  • development of a suitable infrastructure to link lipid clinics
  • establishment of specialist services for children with FH
  • improved awareness of FH in primary care
  • DNA testing to underpin the diagnosis of FH in index cases and relatives

Humphries and Hadfield also point out that the National Institute for Health and Clinical Excellence (NICE) are in the process of developing clinical guidelines for the identification and management of patients with FH, due for publication in August 2008.

While they do not dismiss the idea of screening babies, they propose rather that cascade testing from the estimated 15,000 FH patients already attending lipid clinics should be the starting point for increased detection of cases. They also caution that they found the overlap in cholesterol levels between individuals with and without FH to be much greater than that used in the model of Wald et al., which could mean a high rate of false-negative or false-positive results, depending on the cut-off values selected.

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