LDL-C–Lowering Therapies for Adults and Children With Homozygous Familial Hypercholesterolemia: Challenges and Successes

HomeCirculationVol. 149, No. 5LDL-C–Lowering Therapies for Adults and Children With Homozygous Familial Hypercholesterolemia: Challenges and Successes No AccessEditorialRequest AccessFull TextAboutView Full TextView PDFView EPUBSections ToolsAdd to favoritesDownload citationsTrack citationsPermissions ShareShare onFacebookTwitterLinked InMendeleyReddit Jump toNo AccessEditorialRequest AccessFull TextLDL-C–Lowering Therapies for Adults and Children With Homozygous Familial Hypercholesterolemia: Challenges and Successes Raul D. Santos and Marina Cuchel Raul D. SantosRaul D. Santos Correspondence to: Raul D. Santos, MD, PhD, MSc, Lipid Clinic Heart Institute (InCor), University of Sao Paulo Medical School Hospital, Av Dr Eneas C. Aguiar 44, 05403-000, São Paulo, Brazil. Email E-mail Address: [email protected] or E-mail Address: [email protected] https://orcid.org/0000-0002-9860-6582 Lipid Clinic Heart Institute (InCor), University of Sao Paulo Medical School Hospital, Brazil (R.D.S.). Academic Research Organization, Hospital Israelita Albert Einstein, Sao Paulo, Brazil (R.D.S.). and Marina CuchelMarina Cuchel https://orcid.org/0000-0001-6808-3824 Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia (M.C.). Originally published29 Jan 2024https://doi.org/10.1161/CIRCULATIONAHA.123.067241Circulation. 2024;149:363–366This article is a commentary on the followingEfficacy, Safety, and Tolerability of Inclisiran in Patients With Homozygous Familial Hypercholesterolemia: Results From the ORION-5 Randomized Clinical TrialEvinacumab for Pediatric Patients With Homozygous Familial HypercholesterolemiaFootnotesThe opinions expressed in this article are not necessarily those of the editors or of the American Heart Association.For Disclosures, see page 365.Circulation is available at www.ahajournals.org/journal/circCorrespondence to: Raul D. Santos, MD, PhD, MSc, Lipid Clinic Heart Institute (InCor), University of Sao Paulo Medical School Hospital, Av Dr Eneas C. Aguiar 44, 05403-000, São Paulo, Brazil. Email raul.santos@incor.usp.br or rauldsf@gmail.comREFERENCES1. Cuchel M, Raal FJ, Hegele RA, Al-Rasadi K, Arca M, Averna M, Bruckert E, Freiberger T, Gaudet D, Harada-Shiba M, et al. 2023 Update on European Atherosclerosis Society consensus statement on homozygous familial hypercholesterolaemia: new treatments and clinical guidance.Eur Heart J. 2023; 44:2277–2291. doi: 10.1093/eurheartj/ehad197CrossrefMedlineGoogle Scholar2. Tromp TR, Hartgers ML, Hovingh GK, Vallejo-Vaz AJ, Ray KK, Soran H, Freiberger T, Bertolini S, Harada-Shiba M, Blom DJ, et al; Homozygous Familial Hypercholesterolaemia International Clinical Collaborators. Worldwide experience of homozygous familial hypercholesterolaemia: retrospective cohort study.Lancet. 2022; 399:719–728. doi: 10.1016/S0140-6736(21)02001-8CrossrefMedlineGoogle Scholar3. 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Evinacumab for homozygous familial hypercholesterolemia.N Engl J Med. 2020; 383:711–720. doi: 10.1056/NEJMoa2004215CrossrefMedlineGoogle Scholar12. Adam RC, Mintah IJ, Alexa-Braun CA, Shihanian LM, Lee JS, Banerjee P, Hamon SC, Kim HI, Cohen JC, Hobbs HH, et al. Angiopoietin-like protein 3 governs LDL-cholesterol levels through endothelial lipase-dependent VLDL clearance.J Lipid Res. 2020; 61:1271–1286. doi: 10.1194/jlr.RA120000888CrossrefMedlineGoogle Scholar13. Reeskamp LF, Millar JS, Wu L, Jansen H, van Harskamp D, Schierbeek H, Gipe DA, Rader DJ, Dallinga-Thie GM, Hovingh GK, et al. ANGPTL3 inhibition with evinacumab results in faster clearance of IDL and LDL apoB in patients with homozygous familial hypercholesterolemia: brief report.Arterioscler Thromb Vasc Biol. 2021; 41:1753–1759. doi: 10.1161/ATVBAHA.120.315204LinkGoogle Scholar14. Cuchel M, Meagher EA, du Toit Theron H, Blom DJ, Marais AD, Hegele RA, Averna MR, Sirtori CR, Shah PK, Gaudet D, et al; Phase 3 HoFH Lomitapide Study Investigators. Efficacy and safety of a microsomal triglyceride transfer protein inhibitor in patients with homozygous familial hypercholesterolaemia: a single-arm, open-label, phase 3 study.Lancet. 2013; 381:40–46. doi: 10.1016/S0140-6736(12)61731-0CrossrefMedlineGoogle Scholar15. Thompson GR, Blom DJ, Marais AD, Seed M, Pilcher GJ, Raal FJ. Survival in homozygous familial hypercholesterolaemia is determined by the on-treatment level of serum cholesterol.Eur Heart J. 2018; 39:1162–1168. doi: 10.1093/eurheartj/ehx317CrossrefMedlineGoogle Scholar eLetters(0)eLetters should relate to an article recently published in the journal and are not a forum for providing unpublished data. Comments are reviewed for appropriate use of tone and language. Comments are not peer-reviewed. Acceptable comments are posted to the journal website only. 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Circulation. 2024;149:343-353 January 30, 2024Vol 149, Issue 5 Advertisement Circulation on the Run: January 30, 2024 January 28, 2024 Article InformationMetrics © 2024 American Heart Association, Inc.https://doi.org/10.1161/CIRCULATIONAHA.123.067241PMID: 38285739 Originally publishedJanuary 29, 2024 KeywordsEditorialshomozygous familial hypercholesterolemiahypercholesterolemiaPDF download Advertisement SubjectsCardiovascular DiseaseClinical StudiesLipids and CholesterolMetabolismPharmacology