Editorials

Statins and familial hypercholesterolaemia

BMJ 2009; 338 doi: https://doi.org/10.1136/bmj.a3041 (Published 21 January 2009) Cite this as: BMJ 2009;338:a3041
  1. Andrew Neil, professor of clinical epidemiology and honorary consultant physician1,
  2. Steve E Humphries, professor of cardiovascular genetics2
  1. 1NIHR School of Primary Care, Division of Public Health and Primary Health Care, University of Oxford, Oxford OX3 7LF
  2. 2Centre for Cardiovascular Genetics, British Heart Foundation Laboratories, Royal Free and University College London Medical School, London WC1E 6JJ
  1. andrew.neil{at}wolfson.ox.ac.uk

    LDL cholesterol should be lowered by at least 50% from baseline with a high potency statin

    In the linked study (doi: 10.1136/bmj.a2423), Versmissen and colleagues report the outcome of treatment with statins for primary prevention of coronary heart disease in a large cohort of patients with heterozygous familial hypercholesterolaemia.1 This autosomal dominant monogenic disorder affects about one in 500 people and is the most common genetic cause of premature coronary disease. It results in the accumulation of low density lipoprotein (LDL) from birth, the approximate doubling of usual LDL cholesterol concentrations, and the subsequent development of tendon xanthomata and atheroma. Before effective treatment with statins became available, mortality from coronary disease was increased nearly 100-fold in adults aged 20-39, and about fourfold in those aged 40-59.2

    The findings from Versmissen and colleagues’ study add to the evidence base for treating familial hypercholesterolaemia. Because it is unethical to withhold treatment from patients at such high coronary risk, no randomised placebo controlled trials of statins have assessed clinical outcomes in this group, and so this study is particularly useful. Clinical management has relied on extrapolating the results of …

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