Statins and familial hypercholesterolaemia

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 …