Abstract 15499: Low-Density Lipoprotein Cholesterol Response With Rosuvastatin in Children and Adults With Homozygous Familial Hypercholesterolemia as It Relates to Underlying Genetic Mutations

IntroductionStatins are the first line of therapy in the treatment of homozygous familial hypercholesterolemia (HoFH), a rare genetic disorder with extremely elevated LDL-C which leads to premature, aggressive atherosclerosis. The genetic mutations causing HoFH vary considerably, as does response to statin therapy. We examine the association between age, HoFH genotypes and the response to rosuvastatin treatment.MethodsWe combined data from two trials of HoFH patients confirmed by genetic or clinical criteriaa pediatric trial of 13 HoFH patients aged 7 to 15 years who completed a randomized, double-blind, 6 week study of rosuvastatin 20 mg daily, preceded or followed by 6 weeks of placebo. Patients had discontinued all lipid-lowering medication except ezetimibe and/or apheresis. The other study included 40 HoFH patients, 7 aged