Lomitapide for homozygous familial hypercholesterolaemia

摘要

Homozygous familial hypercholesterolaemia is an inherited disorder caused mainly by mutations in both LDL-receptor alleles. The disorder is difficult to treat. Currently available lipid-modifying therapies, even if combined with LDL-apheresis, rarely achieve optimal LDL-cholesterol concentrations in patients with homozygous familial hypercholesterolaemia, and these patients remain at high cardiovascular risk with substantially reduced life expectancy from premature cardiovascular disease, especially coronary artery disease. However, in a retrospective study, lipid-lowering therapy, especially statin therapy, delayed the onset of cardiovascular events and prolonged survival in patients with homozygous familial hypercholesterolaemia despite only a modest reduction in LDL cholesterol.