Cuchel M, Raal FJ, Hegele RA, Al-Rasadi K, Arca M, Averna 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(25):2277–91.
Article PubMed PubMed Central Google Scholar
Cuchel M, Bruckert E, Ginsberg HN, Raal FJ, Santos RD, Hegele RA, et al. Homozygous familial hypercholesterolaemia: New insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society. Eur Heart J. 2014;35(32):2146–57.
Article CAS PubMed PubMed Central Google Scholar
Pirillo A, Catapano AL. Evinacumab: a new option in the treatment of homozygous familial hypercholesterolemia. Expert Opin Biol Ther. 2022;22(7):813–20.
Article CAS PubMed Google Scholar
Sjouke B, Hovingh GK, Kastelein JJ, Stefanutti C. Homozygous autosomal dominant hypercholesterolaemia: prevalence, diagnosis, and current and future treatment perspectives. Curr Opin Lipidol. 2015;26(3):200–9.
Article CAS PubMed Google Scholar
Gidding SS, Champagne MA, de Ferranti SD, Defesche J, Ito MK, Knowles JW, et al. The agenda for familial hypercholesterolemia: a scientific statement from the American Heart Association. Circulation. 2015;132(22):2167–92.
Raal FJ, Santos RD. Homozygous familial hypercholesterolemia: current perspectives on diagnosis and treatment. Atherosclerosis. 2012;223(2):262–8.
Article CAS PubMed Google Scholar
Moorjani S, Roy M, Torres A, Betard C, Gagne C, Lambert M, et al. Mutations of low-density-lipoprotein-receptor gene, variation in plasma cholesterol, and expression of coronary heart disease in homozygous familial hypercholesterolaemia. Lancet. 1993;341(8856):1303–6.
Article CAS PubMed Google Scholar
Kramer AI, Akioyamen LE, Lee S, Belanger A, Ruel I, Hales L, et al. Major adverse cardiovascular events in homozygous familial hypercholesterolaemia: a systematic review and meta-analysis. Eur J Prev Cardiol. 2022;29(5):817–28.
Tromp TR, Hartgers ML, Hovingh GK, Vallejo-Vaz AJ, Ray KK, Soran H, et al. Worldwide experience of homozygous familial hypercholesterolaemia: retrospective cohort study. Lancet. 2022;399(10326):719–28.
Article PubMed PubMed Central Google Scholar
Tromp TR, Cuchel M. New algorithms for treating homozygous familial hypercholesterolemia. Curr Opin Lipidol. 2022;33(6):326–35.
Article CAS PubMed PubMed Central Google Scholar
Mach F, Baigent C, Catapano AL, Koskinas KC, Casula M, Badimon L, et al. 2019 ESC/EAS guidelines for the management of dyslipidaemias: lipid modification to reduce cardiovascular risk. Eur Heart J. 2020;41(1):111–88.
Grundy SM, Stone NJ, Bailey AL, Beam C, Birtcher KK, Blumenthal RS, et al. 2018 AHA/ACC/AACVPR/AAPA/ABC/ACPM/ADA/AGS/APhA/ASPC/NLA/PCNA Guideline on the management of blood cholesterol: a report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines. Circulation. 2019;139(25):e1082–143.
Raal FJ, Hovingh GK, Catapano AL. Familial hypercholesterolemia treatments: guidelines and new therapies. Atherosclerosis. 2018;277:483–92.
Article CAS PubMed Google Scholar
Rosenson RS, Hegele RA, Koenig W. Cholesterol-lowering agents. Circ Res. 2019;124(3):364–85.
Article CAS PubMed Google Scholar
Cuchel M, Lee PC, Hudgins LC, Duell PB, Ahmad Z, Baum SJ, et al. Contemporary homozygous familial hypercholesterolemia in the United States: insights from the CASCADE FH Registry. J Am Heart Assoc. 2023;12(9): e029175.
Article PubMed PubMed Central Google Scholar
Bertolini S, Calandra S, Arca M, Averna M, Catapano AL, Tarugi P, et al. Homozygous familial hypercholesterolemia in Italy: clinical and molecular features. Atherosclerosis. 2020;312:72–8.
Article CAS PubMed Google Scholar
Pirillo A, Catapano AL, Norata GD. Monoclonal antibodies in the management of familial hypercholesterolemia: focus on PCSK9 and ANGPTL3 inhibitors. Curr Atheroscler Rep. 2021;23(12):79.
Article CAS PubMed PubMed Central Google Scholar
Fujimoto K, Koishi R, Shimizugawa T, Ando Y. Angptl3-null mice show low plasma lipid concentrations by enhanced lipoprotein lipase activity. Exp Anim. 2006;55(1):27–34.
Article CAS PubMed Google Scholar
Köster A, Chao YB, Mosior M, Ford A, Gonzalez-DeWhitt PA, Hale JE, et al. Transgenic angiopoietin-like (angptl)4 overexpression and targeted disruption of angptl4 and angptl3: regulation of triglyceride metabolism. Endocrinology. 2005;146(11):4943–50.
Shimamura M, Matsuda M, Yasumo H, Okazaki M, Fujimoto K, Kono K, et al. Angiopoietin-like protein3 regulates plasma HDL cholesterol through suppression of endothelial lipase. Arterioscler Thromb Vasc Biol. 2007;27(2):366–72.
Article CAS PubMed Google Scholar
Athyros VG, Katsiki N, Dimakopoulou A, Patoulias D, Alataki S, Doumas M. Drugs that mimic the effect of gene mutations for the prevention or the treatment of atherosclerotic disease: from pcsk9 inhibition to ANGPTL3 inactivation. Curr Pharm Des. 2018;24(31):3638–46.
Article CAS PubMed Google Scholar
Dewey FE, Gusarova V, Dunbar RL, O’Dushlaine C, Schurmann C, Gottesman O, et al. Genetic and pharmacologic inactivation of ANGPTL3 and cardiovascular disease. N Engl J Med. 2017;377(3):211–21.
Article CAS PubMed PubMed Central Google Scholar
Stitziel NO, Khera AV, Wang X, Bierhals AJ, Vourakis AC, Sperry AE, et al. ANGPTL3 deficiency and protection against coronary artery disease. J Am Coll Cardiol. 2017;69(16):2054–63.
Article CAS PubMed PubMed Central Google Scholar
Banerjee P, Chan KC, Tarabocchia M, Benito-Vicente A, Alves AC, Uribe KB, et al. Functional analysis of LDLR (low-density lipoprotein receptor) variants in patient lymphocytes to assess the effect of evinacumab in homozygous familial hypercholesterolemia patients with a spectrum of LDLR activity. Arterioscler Thromb Vasc Biol. 2019;39(11):2248–60.
Article CAS PubMed PubMed Central Google Scholar
Gusarova V, Alexa CA, Wang Y, Rafique A, Kim JH, Buckler D, et al. ANGPTL3 blockade with a human monoclonal antibody reduces plasma lipids in dyslipidemic mice and monkeys. J Lipid Res. 2015;56(7):1308–17.
Article CAS PubMed PubMed Central Google Scholar
Markham A. Evinacumab: first approval. Drugs. 2021;81(9):1101–5.
Article CAS PubMed Google Scholar
U. S. Food & Drug Administration (FDA) 2021. EVKEEZA - evinacumab-dgnb injection for intravenous use. Regeneron Pharmaceuticals, Inc. Available from: https://www.acessdata.fda.gov Accessed 06 Mar 2024
European Medicines Agency (EMA) 2021. Evkeeza (Evinacumab) 150 mg/ml concentrate for solution for infusion. Ultragenyx Germany GmbH. Summary of product characteristics. Available from: https://www.ema.europa.eu/ Accessed 06 Mar 2024
Wiegman A, Greber-Platzer S, Ali S, Reijman MD, Brinton EA, Charng MJ, et al. Evinacumab for pediatric patients with homozygous familial hypercholesterolemia. Circulation. 2024;149(5):343–53.
Article CAS PubMed Google Scholar
Gao Y, Zhang B, Yang J. Evinacumab for the treatment of homozygous familial hypercholesterolemia. Expert Rev Clin Pharmacol. 2022;15(2):139–45.
Article CAS PubMed Google Scholar
Gaudet D, Gipe DA, Pordy R, Ahmad Z, Cuchel M, Shah PK, et al. ANGPTL3 inhibition in homozygous familial hypercholesterolemia. N Engl J Med. 2017;377(3):296–7.
Comments (0)