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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,
Consultant Chemical Pathologist
St Thomas Hospital, London SE1 7EH
Member: FH Guideline Development Group
Stephen E Humphries,
British Heart Foundation Professor of Cardiovascular Genetics
Centre for Cardiovascular Genetics, British Heart Foundation Laboratories,
Royal Free and University College London Medical School, 5 University
Street, WC1E 6JJ:
Lead Scientific Advisor; FH Guideline Development Group
Rubin Minhas
Coronary Heart Disease Clinical Lead Medway Primary Care Trust
Kent ME8 0NJ
Chair; FH Guideline Development Group
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
Familial hypercholesterolemia guidance takes pragmatic approach
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,
Consultant Chemical Pathologist
St Thomas Hospital, London SE1 7EH
Member: FH Guideline Development Group
Stephen E Humphries,
British Heart Foundation Professor of Cardiovascular Genetics
Centre for Cardiovascular Genetics, British Heart Foundation Laboratories,
Royal Free and University College London Medical School, 5 University
Street, WC1E 6JJ:
Lead Scientific Advisor; FH Guideline Development Group
Rubin Minhas
Coronary Heart Disease Clinical Lead
Medway Primary Care Trust
Kent ME8 0NJ
Chair; FH Guideline Development Group
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
Competing interests: No competing interests