Advances in familial hypercholesterolaemia in children.

ABSTRACT

Familial hypercholesterolaemia is a common, dominantly inherited disease that results in high concentrations of low-density lipoprotein cholesterol and in premature cardiovascular disease. To prevent cardiovascular disease and premature mortality, patients with the condition need to be identified and to start treatment early in life. In this Review, we discuss the treatment of heterozygous and homozygous familial hypercholesterolaemia in children, including lifestyle modifications, current pharmacological treatment options, and promising novel lipid-lowering treatments. In particular, these new therapies are expected to improve outcomes for patients with severe heterozygous familial hypercholesterolaemia or statin intolerance. For patients with homozygous familial hypercholesterolaemia, lipoprotein apheresis is currently the most valuable therapy available, but new approaches might reduce the need for this effective yet invasive, time-consuming, and expensive treatment.