Evinacumab: a new option in the treatment of homozygous familial hypercholesterolemia

References

• Cuchel M, Bruckert E, Ginsberg HN, 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 Aug 21;35(32):2146–2157.
   PubMed Web of Science ®Google Scholar
• Kramer AI, Akioyamen LE, Lee S, et al. Major adverse cardiovascular events in homozygous familial hypercholesterolaemia: a systematic review and meta-analysis. Eur J Prev Cardiol. 2022 Dec;29(5):817–828.
   PubMed Web of Science ®Google Scholar
• Tromp TR, Hartgers ML, Hovingh GK, et al. Worldwide experience of homozygous familial hypercholesterolaemia: retrospective cohort study. Lancet. 2022 Feb 19;399(10326):719–728.
   PubMed Web of Science ®Google Scholar
• Mach F, Baigent C, Catapano AL, et al. 2019 ESC/EAS Guidelines for the management of dyslipidaemias: lipid modification to reduce cardiovascular risk. Eur Heart J. 2020 Jan 1;41(1):111–188.
   PubMed Web of Science ®Google Scholar
• Raal FJ, Pilcher GJ, Illingworth DR, et al. Expanded-dose simvastatin is effective in homozygous familial hypercholesterolaemia. Atherosclerosis. 1997 Dec;135(2):249–256.
   PubMed Web of Science ®Google Scholar
• Raal FJ, Pappu AS, Illingworth DR, et al. Inhibition of cholesterol synthesis by atorvastatin in homozygous familial hypercholesterolaemia. Atherosclerosis. 2000 Jun;150(2):421–428.
   PubMed Web of Science ®Google Scholar
• Marais AD, Blom DJ, Firth JC. Statins in homozygous familial hypercholesterolemia. Curr Atheroscler Rep. 2002 Jan;4(1):19–25.
   PubMedGoogle Scholar
• Marais AD, Raal FJ, Stein EA, et al. A dose-titration and comparative study of rosuvastatin and atorvastatin in patients with homozygous familial hypercholesterolaemia. Atherosclerosis. 2008 Mar;197(1):400–406.
   PubMed Web of Science ®Google Scholar
• Cohen H, Stefanutti C. The mighty medic satellite research group for Pediatric D. Current approach to the diagnosis and treatment of heterozygote and homozygous fh children and adolescents. Curr Atheroscler Rep. 2021 May 8;23(6):30.
   PubMed Web of Science ®Google Scholar
• Thompson GR. The evidence-base for the efficacy of lipoprotein apheresis in combating cardiovascular disease. Atheroscler Suppl. 2013 Jan;14(1):67–70.
   PubMed Web of Science ®Google Scholar
• Alonso R, Andres E, Mata N, et al. Lipoprotein(a) levels in familial hypercholesterolemia: an important predictor of cardiovascular disease independent of the type of LDL receptor mutation. J Am Coll Cardiol. 2014 May 20;63(19):1982–1989.
   PubMed Web of Science ®Google Scholar
• Julius U, Milton M, Stoellner D, et al. Effects of lipoprotein apheresis on PCSK9 levels. Atheroscler Suppl. 2015 May;18:180–186.
   PubMed Web of Science ®Google Scholar
• Tavori H, Giunzioni I, Linton MF, et al. Loss of plasma proprotein convertase subtilisin/kexin 9 (PCSK9) after lipoprotein apheresis. Circ Res. 2013 Dec 6;113(12):1290–1295.
   PubMed Web of Science ®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 Oct 26;23(12):79.
   PubMed Web of Science ®Google Scholar
• Stein EA, Honarpour N, Wasserman SM, et al. Effect of the proprotein convertase subtilisin/kexin 9 monoclonal antibody, AMG 145, in homozygous familial hypercholesterolemia. Circulation. 2013 Nov 5;128(19):2113–2120.
   PubMed Web of Science ®Google Scholar
• Raal FJ, Honarpour N, Blom DJ, et al. Inhibition of PCSK9 with evolocumab in homozygous familial hypercholesterolaemia (TESLA Part B): a randomised, double-blind, placebo-controlled trial. Lancet. 2015 Jan 24;385(9965):341–350.
   PubMed Web of Science ®Google Scholar
• Santos RD, Stein EA, Hovingh GK, et al. Long-term evolocumab in patients with familial hypercholesterolemia. J Am Coll Cardiol. 2020 Feb 18;75(6):565–574.
   PubMed Web of Science ®Google Scholar
• Blom DJ, Harada-Shiba M, Rubba P, et al. Efficacy and safety of alirocumab in adults with homozygous familial hypercholesterolemia: the ODYSSEY HoFH trial. J Am Coll Cardiol. 2020 Jul 14;76(2):131–142.
   PubMed Web of Science ®Google Scholar
• Thedrez A, Blom DJ, Ramin-Mangata S, et al. Homozygous familial hypercholesterolemia patients with identical mutations variably express the LDLR (Low-Density Lipoprotein Receptor): implications for the efficacy of evolocumab. Arterioscler Thromb Vasc Biol. 2018 Mar;38(3):592–598.
   PubMed Web of Science ®Google Scholar
• Parham JS, Goldberg AC. Mipomersen and its use in familial hypercholesterolemia. Expert Opin Pharmacother. 2019 Feb;20(2):127–131.
   PubMed Web of Science ®Google Scholar
• Astaneh B, Makhdami N, Astaneh V, et al. The effect of mipomersen in the management of patients with familial hypercholesterolemia: a systematic review and meta-analysis of clinical trials. J Cardiovasc Dev Dis. 2021 Jul 20;8(7). DOI:10.3390/jcdd8070082.
   PubMed Web of Science ®Google Scholar
• Chambergo-Michilot D, Alur A, Kulkarni S, et al. Mipomersen in familial hypercholesterolemia: an update on health-related quality of life and patient-reported outcomes. Vasc Health Risk Manag. 2022;18:73–80.
   PubMed Web of Science ®Google Scholar
• Takahashi M, Okazaki H, Ohashi K, et al. Current diagnosis and management of abetalipoproteinemia. J Atheroscler Thromb. 2021 Oct 1;28(10):1009–1019.
   PubMed Web of Science ®Google Scholar
• Stefanutti C. Lomitapide-a microsomal triglyceride transfer protein inhibitor for homozygous familial hypercholesterolemia. Curr Atheroscler Rep. 2020 Jun 18;22(8):38.
   PubMed Web of Science ®Google Scholar
• Blom DJ, Averna MR, Meagher EA, et al. Long-term efficacy and safety of the microsomal triglyceride transfer protein inhibitor lomitapide in patients with homozygous familial hypercholesterolemia. Circulation. 2017 Jul 18;136(3):332–335.
   PubMed Web of Science ®Google Scholar
• Cuchel M, Meagher EA, du Toit Theron H, et al. 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 Jan 5;381(9860):40–46.
   PubMed Web of Science ®Google Scholar
• Leipold R, Raal F, Ishak J, et al. The effect of lomitapide on cardiovascular outcome measures in homozygous familial hypercholesterolemia: a modelling analysis. Eur J Prev Cardiol. 2017 Nov;24(17):1843–1850.
   PubMed Web of Science ®Google Scholar
• Blom DJ, Fayad ZA, Kastelein JJ, et al. LOWER, a registry of lomitapide-treated patients with homozygous familial hypercholesterolemia: rationale and design. J Clin Lipidol. 2016 Mar-Apr;10(2):273–282.
   PubMed Web of Science ®Google Scholar
• Tikka A, Jauhiainen M. The role of ANGPTL3 in controlling lipoprotein metabolism. Endocrine. 2016 May;52(2):187–193.
   PubMed Web of Science ®Google Scholar
• Musunuru K, Pirruccello JP, Do R, et al. Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia. N Engl J Med. 2010 Dec 02;363(23):2220–2227.
   PubMed Web of Science ®Google Scholar
• Martin-Campos JM, Roig R, Mayoral C, et al. Identification of a novel mutation in the ANGPTL3 gene in two families diagnosed of familial hypobetalipoproteinemia without APOB mutation. Clin Chim Acta. 2012 Mar 22;413(5–6):552–555.
   PubMed Web of Science ®Google Scholar
• Minicocci I, Montali A, Robciuc MR, et al. Mutations in the ANGPTL3 gene and familial combined hypolipidemia: a clinical and biochemical characterization. J Clin Endocrinol Metab. 2012 Jul;97(7):E1266–75.
   PubMed Web of Science ®Google Scholar
• Noto D, Cefalu AB, Valenti V, et al. Prevalence of ANGPTL3 and APOB gene mutations in subjects with combined hypolipidemia. Arterioscler Thromb Vasc Biol. 2012 Mar;32(3):805–809.
   PubMed Web of Science ®Google Scholar
• Pisciotta L, Favari E, Magnolo L, et al. Characterization of three kindreds with familial combined hypolipidemia caused by loss-of-function mutations of ANGPTL3. Circ Cardiovasc Genet. 2012 Feb 1;5(1):42–50.
   PubMedGoogle Scholar
• Stitziel NO, Khera AV, Wang X, et al. ANGPTL3 deficiency and protection against coronary artery disease. J Am Coll Cardiol. 2017 Apr 25;69(16):2054–2063.
   PubMed Web of Science ®Google Scholar
• Dewey FE, Gusarova V, Dunbar RL, et al. Genetic and pharmacologic inactivation of ANGPTL3 and cardiovascular disease. N Engl J Med. 2017 Jul 20;377(3):211–221.
   PubMed Web of Science ®Google Scholar
• Adam RC, Mintah IJ, Alexa-Braun CA, et al. Angiopoietin-like protein 3 governs LDL-cholesterol levels through endothelial lipase-dependent VLDL clearance. J Lipid Res. 2020 Sep;61(9):1271–1286.
   PubMed Web of Science ®Google Scholar
• Gaudet D, Karwatowska-Prokopczuk E, Baum SJ, et al. Vupanorsen, an N-acetyl galactosamine-conjugated antisense drug to ANGPTL3 mRNA, lowers triglycerides and atherogenic lipoproteins in patients with diabetes, hepatic steatosis, and hypertriglyceridaemia. Eur Heart J. 2020 Oct 21;41(40):3936–3945.
   PubMed Web of Science ®Google Scholar
• Gusarova V, Alexa CA, Wang Y, et al. ANGPTL3 blockade with a human monoclonal antibody reduces plasma lipids in dyslipidemic mice and monkeys. J Lipid Res. 2015 Jul;56(7):1308–1317.
   PubMed Web of Science ®Google Scholar
• Gaudet D, Gipe DA, Pordy R, et al. ANGPTL3 inhibition in homozygous familial hypercholesterolemia. N Engl J Med. 2017 Jul 20;377(3):296–297.
   PubMed Web of Science ®Google Scholar
• Banerjee P, Chan KC, Tarabocchia M, 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 Nov;39(11):2248–2260.
   PubMed Web of Science ®Google Scholar
• Reeskamp LF, Millar JS, Wu L, 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 May 5;41(5):1753–1759.
   PubMed Web of Science ®Google Scholar
• Raal FJ, Rosenson RS, Reeskamp LF, et al. Evinacumab for homozygous familial hypercholesterolemia. N Engl J Med. 2020 Aug 20;383(8):711–720.
   PubMed Web of Science ®Google Scholar
• Ference BA, Ginsberg HN, Graham I, et al. Low-density lipoproteins cause atherosclerotic cardiovascular disease. 1. Evidence from genetic, epidemiologic, and clinical studies. A consensus statement from the European Atherosclerosis Society Consensus Panel. Eur Heart J. 2017 Aug 21;38(32):2459–2472.
   PubMed Web of Science ®Google Scholar
• Jeraj N, Huang SS, Kennedey BA, et al. Treatment of homozygous familial hypercholesterolemia with evinacumab. CJC Open. 2022;4(3):347–349.
   PubMedGoogle Scholar
• Nicholls SJ, Puri R, Anderson T, et al. effect of evolocumab on progression of coronary disease in statin-treated patients: the GLAGOV randomized clinical trial. Jama. 2016 Nov 15;316(22):2373–2384.
   PubMed Web of Science ®Google Scholar
• Reeskamp LF, Nurmohamed NS, Bom MJ, et al. Marked plaque regression in homozygous familial hypercholesterolemia. Atherosclerosis. 2021 May;3(327):13–17.
   Google Scholar
• Luirink IK, Wiegman A, Kusters DM, et al. 20-year follow-up of statins in children with familial hypercholesterolemia. N Engl J Med. 2019 Oct 17;381(16):1547–1556.
   PubMed Web of Science ®Google Scholar
• Ahmad Z, Banerjee P, Hamon S, et al. inhibition of angiopoietin-like protein 3 with a monoclonal antibody reduces triglycerides in hypertriglyceridemia. Circulation. 2019 Aug 6;140(6):470–486.
   PubMed Web of Science ®Google Scholar
• Jin M, Meng F, Yang W, et al. Efficacy and safety of evinacumab for the treatment of hypercholesterolemia: a meta-analysis. J Cardiovasc Pharmacol. 2021 Sep 1;78(3):394–402.
   PubMed Web of Science ®Google Scholar
• Rosenson RS, Burgess LJ, Ebenbichler CF, et al. Evinacumab in patients with refractory hypercholesterolemia. N Engl J Med. 2020 Dec 10;383(24):2307–2319.
   PubMed Web of Science ®Google Scholar
• Ahmad Z, Pordy R, Rader DJ, et al. Inhibition of angiopoietin-like protein 3 with evinacumab in subjects with high and severe hypertriglyceridemia. J Am Coll Cardiol. 2021 Jul 13;78(2):193–195.
   PubMed Web of Science ®Google Scholar