Physicians' Academy for Cardiovascular Education

Statin treatment effective in pediatric patients with homozygous FH

Efficacy of Rosuvastatin in Children With Homozygous Familial Hypercholesterolemia and Association With Underlying Genetic Mutations

Literature - Stein EA, Dann EJ, Wiegman A, et al. - J Am Coll Cardiol. 2017;70(9):1162-1170


Rosuvastatin reduces significantly LDL-C levels in adults with homozygous familial hypercholesterolemia (HoFH), but data in pediatric patients are limited [1]. There is also a lack of data regarding the use of lomitapide, mipomersen and evolocumab, as well as apheresis in young HoFH children [2,3].

In this global study, the efficacy and safety of rosuvastatin on LDL-C and other lipids, lipoproteins, and apolipoproteins was evaluated compared with placebo, in 13 children and adolescents aged < 18 years with HoFH. Moreover, the association between HoFH genotypes and the LDL-C response to rosuvastatin was assessed in a broader HoFH population of both children and adults.

Patients with at least 1 of the following were eligible for the study:

- tendon or cutaneous xanthoma before the age of 10 years

- HeFH diagnosed by genetic or clinical criteria in both parents

Eligible patients discontinued all lipid-lowering therapy except ezetimibe and/or apheresis, and received rosuvastatin 10 mg daily for 4 weeks in the lead-in phase. Subsequently, they were randomized 1:1 to a double-blind, 12-week crossover period of rosuvastatin 20 mg daily versus placebo, followed by a 12-week, open-label rosuvastatin 20 mg maintenance phase.

Main results


In children and adolescents with HoFH, rosuvastatin 20 mg alone or in combination with ezetimibe and/or apheresis led to an effective LDL-C reduction, and was well tolerated. Consequently, rosuvastatin is approved for the treatment of HoFH pediatric patients 7 to 17 years of age. The LDL-C response to rosuvastatin was related to the underlying mutations and was consistent with that seen in adults.


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