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BMJ. 2007 November 17; 335(7628): 1007–1008.
PMCID: PMC2078658
Familial Hypercholesterolaemia

Screening needs a fresh approach

David S Wald, senior lecturer, Jonathan P Bestwick, statistician, and Nicholas J Wald, professor

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 a prerequisite for cascade testing, and this has not been achieved in any such programme.4

Expert groups have not recommended a general screening approach because cholesterol measurement is a poor screening test at birth and in adults. Our screening meta-analysis showed that between 1 and 9 years it is a good screening test—detecting about nine out of 10 affected individuals with a low false positive rate (about one in 1000). This finding provides the basis for revisiting cholesterol measurement as a general screening policy and testing it in a pilot implementation project.

It is probably best to start statin therapy in children with familial hypercholesterolaemia once they become teenagers because clinical manifestations of the disorder are rare before this time. Hopcroft believes that screening would cause anxiety and confer little benefit to the child until cholesterol lowering treatment is started.5 But the detection and treatment of the parent who is also affected, made possible by screening the child, also benefits the child in preventing the premature death of the parent. The essence of our screening proposal is that child and parent both benefit, and therefore the family as a whole.

All screening involves a degree of anxiety. Indeed it is the anxiety of having a serious medical disorder and the desire to avoid its harmful consequences that forms the rational basis for being screened. Anxiety itself is not harmful; it is excess or inappropriate anxiety that is harmful, and with care much can be done to minimise this in medical screening, particularly in familial hypercholesterolaemia, for which simple, safe, and effective treatment is available.

There is no reason why screening for familial hypercholesterolaemia should “cast a shadow on childhood”5 and every reason why it would save the life of a parent and later the life of the child when an adult.

Notes

Competing interests: None declared.

References

1. Hadfield GS, Humphries SE. Cascade testing is tried and tested and cost effective. BMJ 2007;335:683 (6 October.) doi: 10.1136/bmj.39353.483160.BE
2. Wald DS, Bestwick JP, Wald NJ. Child-parent screening for familial hypercholesterolaemia: screening strategy based on a meta-analysis. BMJ 2007;335:599 (22 September.) [PMC free article] [PubMed]
3. Is cascade testing a sensible method of population screening? J Med Screen 2004;11:57-8. [PubMed]
4. Morris JK, Law MR, Wald NJ. Is cascade testing a sensible method of screening a population for autosomal recessive disorders? Am J Med Genet 2004;128A:271-5.
5. Hopcroft KA. Child-parent screening may have adverse psychological effects. BMJ 2007:335:683. (6 October.) doi: 10.1136/bmj.39353.368553.BE

Articles from The BMJ are provided here courtesy of BMJ Group