Commentary: What's so special about familial hypercholesterolaemia?

Abstract

Last year the National Institute for Health and Clinical Excellence (NICE) issued clinical guidance on the diagnosis and management of familial hypercholesterolaemia.1 The implications of this guidance for general practice are discussed by Qureshi et al in this issue of the BJGP .2 But why do we need such guidance? We know already that we should treat high-cholesterol patients with a statin to reduce the risk of vascular disease, so what's so special about familial hypercholesterolaemia? Isn't familial hypercholesterolaemia simply the tail-end of the cholesterol distribution in a population? Epidemiologists have been telling us for years that focusing on the treatment of tail-ends is a poor preventive strategy because most events (in this case strokes and myocardial infarctions) occur to people in the middle of the population distribution simply because there are so many of them.3 Wouldn't it be better for the NICE guidance to focus on shifting the whole population distribution of cholesterol rather than chopping off the tail? The rationale for treating familial hypercholesterolaemia differently is the disproportionately high mortality risk, particularly in young adults, which is higher than …