{"id":"43311c493b6c","type":"article","url":"https://hartvaat.nl/2017/08/29/rosuvastatine-bij-kinderen-met-homozygote-familiaire-hypercholesterolemie/","title":"Rosuvastatine bij kinderen met homozygote familiaire hypercholesterolemie","title_en":"Efficacy of Rosuvastatin in Children With Homozygous Familial Hypercholesterolemia and Association With Underlying Genetic Mutations.","category":"cholesterol","category_label":"Cholesterol","professions":["apotheker","cardioloog","internist"],"tags":["atorvastatine","cardiovasculaire-genetica","familiaire-hypercholesterolemie","familiaire-hypercholesterolemie-screening","ldl-cholesterol","rosuvastatine","statines"],"journal":"Journal of the American College of Cardiology","doi":"10.1016/j.jacc.2017.06.058","source_url":"https://doi.org/10.1016/j.jacc.2017.06.058","authors":["Evan A Stein","Eldad J Dann","Albert Wiegman","Flemming Skovby","Daniel Gaudet","Etienne Sokal","Min-Ji Charng","Mafauzy Mohamed","Ilse Luirink","Joel S Raichlen","Mattias Sundén","Stefan C Carlsson","Frederick J Raal","John J P Kastelein"],"significance":6,"published":"2017-08-29","source_date":"2017-08-29","image":"","kennis":["https://hartvaat.nl/kennis/lipiden/familiaire-hypercholesterolemie/","https://hartvaat.nl/kennis/lipiden/hdl-functie-en-reverse-cholesterol/"],"congress":"","summary_en":"This study evaluated rosuvastatin efficacy in children with homozygous FH stratified by underlying genetic mutations, showing that LDL-receptor activity determines statin responsiveness in this severe genetic disorder.","created":"2026-07-03T10:26:52Z","updated":"2026-07-03T13:26:09Z","licence":"Citeer vrij, met bronvermelding en een link naar hartvaat.nl (de url van het record). Samenvattingen zijn redactioneel werk van HartVaat; de oorspronkelijke publicaties blijven van hun uitgevers (doi). Geen medisch advies.","body_markdown":"Studie naar de werkzaamheid van rosuvastatine bij kinderen met homozygote FH en de associatie met onderliggende genetische mutaties. Gepersonaliseerde lipidenverlaging bij de zwaarste FH-vormen.","abstract_original":"BACKGROUND: Homozygous familial hypercholesterolemia (HoFH), a rare genetic disorder, is characterized by extremely elevated levels of low-density lipoprotein cholesterol (LDL-C) and accelerated atherosclerotic cardiovascular disease. Statin treatment starts at diagnosis, but no statin has been formally evaluated in, or approved for, HoFH children. OBJECTIVES: The authors sought to assess the LDL-C efficacy of rosuvastatin versus placebo in HoFH children, and the relationship with underlying genetic mutations. METHODS: This was a randomized, double-blind, 12-week, crossover study of rosuvastatin 20 mg versus placebo, followed by 12 weeks of open-label rosuvastatin. Patients discontinued all lipid-lowering treatment except ezetimibe and/or apheresis. Clinical and laboratory assessments were performed every 6 weeks. The relationship between LDL-C response and genetic mutations was assessed by adding children and adults from a prior HoFH rosuvastatin trial. RESULTS: Twenty patients were screened, 14 randomized, and 13 completed the study. The mean age was 10.9 years; 8 patients were on ezetimibe and 7 on apheresis. Mean LDL-C was 481 mg/dl (range: 229 to 742 mg/dl) on placebo and 396 mg/dl (range: 130 to 700 mg/dl) on rosuvastatin, producing a mean 85.4 mg/dl (22.3%) difference (p = 0.005). Efficacy was similar regardless of age or use of ezetimibe or apheresis, and was maintained for 12 weeks. Adverse events were few and not serious. Patients with 2 defective versus 2 negative LDL receptor mutations had mean LDL-C reductions of 23.5% (p = 0.0044) and 14% (p = 0.038), respectively. CONCLUSIONS: This first-ever pediatric HoFH statin trial demonstrated safe and effective LDL-C reduction with rosuvastatin 20 mg alone or added to ezetimibe and/or apheresis. The LDL-C response in children and adults was related to underlying genetic mutations. (A Study to Evaluate the Efficacy and Safety of Rosuvastatin in Children and Adolescents With Homozygous Familial Hypercholesterolemia [HYDRA]; NCT02226198)."}