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Familial hypercholesterolemia guidance takes pragmatic approach
- Rubin Minhas, Anthony S Wierzbicki, Stephen E Humphries (2 September 2008)
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Rubin Minhas, Coronary Heart Disease Clinical Lead Medway Primary Care Trust, Anthony S Wierzbicki, Stephen E Humphries
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Sir, We thank Wald for his comments1 on recent NICE guidance on familial hypercholesterolaemia (FH)2 and wish to clarify some points raised in his commentary. Cascade testing using DNA methods from genetically-proven index cases with FH to identify affected family members is the first-line recommendation, with use of LDL-cholesterol measurements recommended only when mutations are not found. Both this cholesterol strategy, and population screening as advocated by Wald3, are susceptible to biological variation and hence uncertainty. Our group, which included patients, felt that it was best to offer accurate information, and not to diagnose FH inappropriately. Population screening was outside our remit and, unlike cascade testing, its cost-effectiveness and feasibility are unknown4. However, we have recommended further research in to case-finding strategies using GP note searching. The guideline clearly addresses global cardiovascular risk by providing advice on appropriate strategies for lifestyle modification and especially smoking cessation. Overall, people with FH have a relatively low incidence of hypertension and diabetes5 but the significance of these risk factors is acknowledged within the risk stratification approach to treatment. The role of anti-hypertensive and anti-platelet therapies in this population was beyond our remit and there is no specific evidence for the use of anti-hypertensive medications in normotensive FH patients or for the use of aspirin in primary prevention in FH, although their use as recommended for the general population is appropriate. The guideline does not recommend that statins be considered in children in the general population, but only for a minority of the 0.002% of children with FH following a clinical assesment. This is corroborated by the professional experience of paediatric specialists who use clinical judgment in offering statin treatment in their current practice. Outcome studies are not feasable in this small paediatric population. Only specialists with expertise in FH in children should consider statin treatment for children, and only after detailed discussion of the risks and benefits. Ultimately, informed patient choice should prevail. Yours Sincerely Anthony S Wierzbicki,
Stephen E Humphries,
Rubin Minhas
Reference List (1) Wald D. Controversies in NICE guidance on familial hypercholesterolaemia. BMJ. In press 2008. (2) Wierzbicki AS, Humphries SE, Minhas R. Familial hypercholesterolaemia: summary of NICE guidance. BMJ. In press 2008. (3) Wald DS, Bestwick JP, Wald NJ. Child-parent screening for familial hypercholesterolaemia: screening strategy based on a meta- analysis. BMJ 2007; 335(7620):599. (4) Marks D, Wonderling D, Thorogood M, Lambert H, Humphries SE, Neil HA. Cost effectiveness analysis of different approaches of screening for familial hypercholesterolaemia. BMJ 2002; 324(7349):1303. (5) Neil HA, Seagroatt V, Betteridge DJ, Cooper MP, Durrington PN, Miller JP, Seed M, Naoumova RP, Thompson GR, Huxley R, Humphries SE. Established and emerging coronary risk factors in patients with heterozygous familial hypercholesterolaemia.Heart. 2004;90(12):1431-7. Competing interests: These have been previously disclosed2 |
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