close
References
  1. Rosenson RS. Existing and emerging therapies for the treatment of familial hypercholesterolemia. J Lipid Res. 2021;62:100060.
  2. Cuchel M, Bruckert E, Ginsberg HN, et al; European Atherosclerosis Society Consensus Panel on Familial Hypercholesterolaemia. 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): 2146-2157.
  3. Mach F, Baigent C, Catapano AL, et al; ESC Scientific Document Group. 2019 ESC/EAS Guidelines for the management of dyslipidaemias: lipid modification to reduce cardiovascular risk. Eur Heart J. 2020;41(1):111-188.
  4. Shah NP, Ahmed HM, Tang WHW. Familial hypercholesterolemia: detect, treat, and ask about family. Cleve Clin J Med. 2020;87(2):109-120.
  5. Watts GF, Gidding SS, Mata P, et al. Familial hypercholesterolaemia: evolving knowledge for designing adaptive models of care. Nat Rev Cardiol. 2020;17(6):360-377.
  6. Rader DJ, Kastelein JJ. Lomitapide and mipomersen: two first-in-class drugs for reducing low-density lipoprotein cholesterol in patients with homozygous familial hypercholesterolemia. Circulation. 2014;129(9):1022-1032.
  7. Raal FJ, Pilcher GJ, Panz VR, et al. Reduction in mortality in subjects with homozygous familial hypercholesterolemia associated with advances in lipid-lowering therapy. Circulation. 2011;124(20):2202-2207.
  8. Raal FJ, Hovingh GK, Catapano AL. Familial hypercholesterolemia treatments: guidelines and new therapies. Atherosclerosis. 2018;277:483-492.
  9. Vuorio A, Kuoppala J, Kovanen PT, et al. Statins for children with familial hypercholesterolemia. Cochrane Database Syst Rev. 2019;11:CD006401.
  10. Stein EA, Dann EJ, Wiegman A, et al. Efficacy of rosuvastatin in children with homozygous familial hypercholesterolemia and association with underlying genetic mutations. J Am Coll Cardiol. 2017;70(9):1162-1170.
  11. MEVACOR (Lovastatin). Prescribing information. Merck & Co., Inc.; 2012.
  12. ZOCOR (simvastatin). Prescribing information. Merck & Co., Inc.; 2010.
  13. LESCOL (fluvastatin). Prescribing information. Novartis Pharmaceuticals Corporation; 2012.
  14. LIPITOR (atorvastatin calcium). Pfizer, Inc.; 2009.
  15. PRAVACHOL (pravastatin sodium). Bristol-Myers Squibb; year TBD.
  16. LIVALO (pitavastatin). Kowa Pharmaceuticals America, Inc; 2009.
  17. CRESTOR (rosuvastatin calcium). AstraZeneca; 2016.
  18. ZETIA (ezetimibe). Merck & Co., Inc.; 2012.
  19. REPATHA (evolocumab). Amgen; 2020.
  20. PRALUENT (alirocumab). Regeneron Pharmaceuticals, Inc./sanofi-aventis U.S.; 2017.
  21. Raal FJ, Honarpour N, Blom DJ, et al; TESLA Investigators. Inhibition of PCSK9 with evolocumab in homozygous familial hypercholesterolaemia (TESLA Part B): a randomised, double-blind, placebo-controlled trial. Lancet. 2015;385(9965):341-350.
  22. Santos RD, Stein EA, Hovingh GK, et al. Long-term evolocumab in patients with familial hypercholesterolemia. J Am Coll Cardiol. 2020;75(6):565-574.
  23. Kastelein JJ, Ginsberg HN, Langslet G, et al. ODYSSEY FH I and FH II: 78 week results with alirocumab treatment in 735 patients with heterozygous familial hypercholesterolaemia. Eur Heart J. 2015;36(43):2996-3003.
  24. 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;76(2):131-142.
  25. Santos RD, Ruzza A, Hovingh GK, et al; HAUSER-RCT Investigators. Evolocumab in pediatric heterozygous familial hypercholesterolemia. N Engl J Med. 2020;383(14):1317-1327.
  26. Daniels S, Caprio S, Chaudhari U, et al. PCSK9 inhibition with alirocumab in pediatric patients with heterozygous familial hypercholesterolemia: the ODYSSEY KIDS study. J Clin Lipidol. 2020;14(3):322-330.e5.
  27. WELCHOL (colesevelam hydrochloride). Daiichi Sankyo, Inc.; 2020.
  28. Grundy SM, Stone NJ, Bailey AL, 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. J Am Coll Cardiol. 2019;73(24):e285-e350.
  29. Ito MK, Watts GF. Challenges in the diagnosis and treatment of homozygous familial hypercholesterolemia. Drugs. 2015;75(15):1715-1724.
  30. Lundberg GP, Mehta LS. Familial hypercholesterolemia and pregnancy. Expert analysis. May 14, 2018. www.acc.org/latest-in-cardiology/articles/2018/05/10/13/51/familial-hypercholesterolemia-and-pregnancy. Accessed July 2, 2021.
  31. United States Food and Drug Administration. FDA requests removal of strongest warning against using cholesterol-lowering statins during pregnancy; still advises most pregnant patients should stop taking statins. July 20, 2021. www.fda.gov/drugs/drug-safety-and-availability/fda-requests-removal-strongest-warning-against-using-cholesterol-lowering-statins-during-pregnancy. Accessed July 27, 2021.
  32. Song WL, FitzGerald GA. Niacin, an old drug with a new twist. J Lipid Res. 2013;54(10):2586-2594.
  33. Luirink IK, Determeijer J, Hutten BA, et al. Efficacy and safety of lipoprotein apheresis in children with homozygous familial hypercholesterolemia: a systematic review. J Clin Lipidol. 2019;13(1):31-39.
  34. Thompson GR. The evidence-base for the efficacy of lipoprotein apheresis in combating cardiovascular disease. Atheroscler Suppl. 2013;14(1):67-70.
  35. Stefanutti C, Julius U, Watts GF, et al; MIGHTY MEDIC Multinational Society. Toward an international consensus—integrating lipoprotein apheresis and new lipid-lowering drugs. J Clin Lipidol. 2017;11(4):858-871.
  36. Stasiewski E, Christoph M, Christoph A, Bittner A, Weidner K, Julius U. Mental symptoms and quality of life in lipoprotein apheresis patients in comparison to hemodialysis patients, platelet donors and normal population. Atheroscler Suppl. 2015;18:233-240.
  37. Martinez M, Brodlie S, Griesemer A, et al. Effects of liver transplantation on lipids and cardiovascular disease in children with homozygous familial hypercholesterolemia. Am J Cardiol. 2016;118(4):504-510.
  38. Goulooze S, Cohen AF, Rissmann R. Lomitapide. Br J Clin Pharmacol. 2015;80(2):179-181.
  39. Cuchel M, Meagher EA, du Toit Theron H, 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(9860):40-46.
  40. JUXTAPID (lomitapide). Aegerion Pharmaceuticals, Inc.; 2012.     
  41. Raal FJ, Rosenson RS, Reeskam LF, et al; ELIPSE HoFH Investigators. Evinacumab for homozygous familial hypercholesterolemia. N Engl J Med. 2020;383(8):711-720.
  42. Rosenson RS, Burgess LJ, Ebenbichler CF, et al. Evinacumab in patients with refractory hypercholesterolemia. N Engl J Med. 2020;383(24):2307-2319.
  43. EVKEEZA (evinacumab-dgnb). Regeneron Pharmaceuticals, Inc.; 2021.
  44. Ruscica M, Ferri N, Santos RD, Sirtori CR, Corsini A. Lipid lowering drugs: present status and future developments. Curr Atherosclerosis Rep. 2021;23(5):17.
  45. Pinkosky SL, Newton RS, Day EA, et al. Liver-specific ATP-citrate lyase inhibition by bempedoic acid decreases LDL-C and attenuates atherosclerosis. Nat Commun. 2016;7:13457.
  46. Banach M, Duell PB, Gotto AM Jr, et al. Association of bempedoic acid administration with atherogenic lipid levels in phase 3 randomized clinical trials of patients with hypercholesterolemia. JAMA Cardiol. 2020;5(10):1124-1135.
  47. NEXLETOL (bempedoic acid). Esperion Therapeutics, Inc.; 2020.  
  48. Raal FJ, Kallend D, Ray KK, et al; ORION-9 Investigators. Inclisiran for the treatment of heterozygous familial hypercholesterolemia. N Engl J Med. 2020;382(16):1520-1530.
  49. Raal FJ, Lepor N, Kallend D, et al. Inclisiran durably lowers LDL-C and PCSK9 expression in subjects with homozygous familial hypercholesterolaemia: the Orion-2 pilot study. Atherosclerosis. 2019;287:e7.
  50. Bajaj A, Cuchel M. Homozygous familial hypercholesterolemia: what treatments are on the horizon? Curr Opin Lipidol. 2020;31(3):119-124.
  51. Musunuru K, Chadwick AC, Mizoguchi T, et al. In vivo CRISPR base editing of PCSK9 durably lowers cholesterol in primates. Nature. 2021;593(7859):429-451.
  52. Verve Therapeutics. Press release. Verve Therapeutics presents new data in non-human primates validating gene editing as a treatment approach for coronary heart disease at the ISSCR 2020 Virtual Annual Meeting. June 27, 2020.
  53. Okada H, Nakanishi C, Yoshida S, et al. Function and immunogenicity of gene-corrected iPSC-derived hepatocyte-like cells in restoring low density lipoprotein uptake in homozygous familial hypercholesterolemia. Sci Rep. 2019;9(1):4695.
  54. Omer L, Hudson EA, Hudgins LC, Boyd NL. Cohort generation and characterization of patient-specific familial hypercholesterolemia induced pluripotent stem cells. Stem Cells Dev. 2021;30(12):632-640.