Lomitapide for the treatment of homozygous familial hypercholesterolaemia in children
Homozygous familial hypercholesterolaemia (HoFH), a rare condition that affects about one in 300 000 individuals worldwide, is among the most challenging dyslipidaemias to treat.1 The underlying cause of HoFH is biallelic DNA variants that impair the LDL receptor.2,3 This renders ineffective most commonly used lipid-lowering therapies because their mechanisms of action largely depend on intact LDL receptor function. The disease burden in patients with HoFH is exceptionally high, with a mean age of first myocardial infarction of 24·5 years (95% CI 19·2–29·8), often with aggressive aortic root disease.
