The estimated prevalence of familial hypercholesterolaemia in the United Kingdom is 1 in 500. Heterozygous familial hypercholesterolaemia carries a high risk of premature coronary heart disease (>50% risk in men by the age of 50 years and >30% in women by 60 years), but the condition is underdiagnosed. This article summarises the most recent recommendations from the National Institute for Health and Clinical Excellence (NICE) on diagnosing and managing familial hypercholesterolaemia.1