Recent advances in research and care of familial hypercholesterolaemia

Heterozygous familial hypercholesterolaemia is a common, autosomal semi-dominant condition characterised by elevation of LDL cholesterol from birth and early onset of atherosclerotic cardiovascular disease. With major advances in knowledge about the disease, familial hypercholesterolaemia has become an exemplar for the practice of precision and personalised medicine. Beyond genetics, developments in clinical risk prediction algorithms and cardiovascular imaging have enabled more accurate risk stratification of patients. Early initiation of cholesterol-lowering therapies can reduce the progression of atherosclerosis and prevent cardiovascular events. Newer treatments offer the possibility of normalising plasma LDL cholesterol concentrations even in homozygous familial hypercholesterolaemia, the most severe form of the condition. Despite these advances, familial hypercholesterolaemia is still inadequately diagnosed and undertreated, with many affected people remaining at high risk of early cardiovascular disease. The application of implementation science to expanding knowledge of familial hypercholesterolaemia has enabled the development and design of potentially more effective models of care. This Review discusses the contemporary knowledge of familial hypercholesterolaemia and its unmet clinical needs.