Illingworth DR, Duell PB, Connor WE. Disorders of lipid metabolism. Felig P, Baxter JD, Frohmin LA, eds. Endocrinology and Metabolism. 1315-1403.
Ueda M. Familial hypercholesterolemia. Mol Genet Metab. 2005 Dec. 86(4):423-6. [QxMD MEDLINE Link].
Marks D, Thorogood M, Neil HA, Humphries SE. A review on the diagnosis, natural history, and treatment of familial hypercholesterolaemia. Atherosclerosis. 2003 May. 168(1):1-14. [QxMD MEDLINE Link].
Wood S. New EAS Consensus Document Tackles Familial Hypercholesterolemia. Medscape Medical News. Available at http://www.medscape.com/viewarticle/805252. Accessed: September 5, 2013.
Nordestgaard BG, Chapman MJ, Humphries SE, Ginsberg HN, Masana L, Descamps OS, et al. Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: Consensus Statement of the European Atherosclerosis Society. Eur Heart J. 2013 Aug 15. [QxMD MEDLINE Link].
Expert Panel on Detection, Evaluation, and Treatment of High Blood Cholesterol in Adults. Executive Summary of The Third Report of The National Cholesterol Education Program (NCEP) Expert Panel on Detection, Evaluation, And Treatment of High Blood Cholesterol In Adults (Adult Treatment Panel III). JAMA. 2001 May 16. 285 (19):2486-97. [QxMD MEDLINE Link].
National Cholesterol Education Program Expert Panel. Report of the National Cholesterol Education Program Expert Panel on Detection, Evaluation, and Treatment of High Blood Cholesterol in Adults. The Expert Panel. Arch Intern Med. 1988 Jan. 148(1):36-69. [QxMD MEDLINE Link].
Grundy SM, Cleeman JI, Merz CN, Brewer HB Jr, Clark LT, Hunninghake DB, et al. Implications of recent clinical trials for the National Cholesterol Education Program Adult Treatment Panel III guidelines. Circulation. 2004 Jul 13. 110(2):227-39. [QxMD MEDLINE Link].
Connor WE, Connor SL. Dietary treatment of familial hypercholesterolemia. Arteriosclerosis. 1989 Jan-Feb. 9(1 Suppl):I91-105. [QxMD MEDLINE Link].
Illingworth DR. Management of hypercholesterolemia. Med Clin North Am. 2000 Jan. 84(1):23-42. [QxMD MEDLINE Link].
Brown BG, Zhao XQ, Chait A, Fisher LD, Cheung MC, Morse JS. Simvastatin and niacin, antioxidant vitamins, or the combination for the prevention of coronary disease. N Engl J Med. 2001 Nov 29. 345(22):1583-92. [QxMD MEDLINE Link].
Toklu B, Amirian J, Giugliano RP. Current indications, cost, and clinical use of anti-PCSK9 monoclonal antibodies. American College of Cardiology. Available at http://www.acc.org/latest-in-cardiology/articles/2016/05/18/14/34/current-indications-cost-and-clinical-use-of-anti-pcsk9-monoclonal-antibodies. May 19, 2016; Accessed: July 10, 2016.
Wiegman A et al. Familial hypercholesterolaemia in children and adolescents: gaining decades of life by optimizing detection and treatment. Eur Heart J. 2015 Sep 21. 36 (36):2425-37. [QxMD MEDLINE Link]. [Full Text].
Austin MA, Hutter CM, Zimmern RL, Humphries SE. Familial hypercholesterolemia and coronary heart disease: a HuGE association review. Am J Epidemiol. 2004 Sep 1. 160(5):421-9. [QxMD MEDLINE Link].
Sibley C, Stone NJ. Familial hypercholesterolemia: a challenge of diagnosis and therapy. Cleve Clin J Med. 2006 Jan. 73(1):57-64. [QxMD MEDLINE Link].
Bjorkhem I, Boberg KM. Inborn errors in bile acid biosynthesis and storage of sterols other than cholesterol. Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. 8th ed. New York, NY: McGraw-Hill; 2001. 2073-2099.
Garcia CK, Wilund K, Arca M, Zuliani G, Fellin R, Maioli M, et al. Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein. Science. 2001 May 18. 292(5520):1394-8. [QxMD MEDLINE Link].
Kane JP, Havel RJ. Disorders of the biogenesis and secretion of lipoproteins containing the B apolipoproteins. Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. 8th ed. New York, NY: McGraw-Hill; 2001. 2717-2752.
Goldstein JL, Brown MS. Regulation of low-density lipoprotein receptors: implications for pathogenesis and therapy of hypercholesterolemia and atherosclerosis. Circulation. 1987 Sep. 76(3):504-7. [QxMD MEDLINE Link].
Goldstein JL, Brown MS. Molecular medicine. The cholesterol quartet. Science. 2001 May 18. 292(5520):1310-2. [QxMD MEDLINE Link].
Hammond E, Watts GF, Rubinstein Y, et al. Role of international registries in enhancing the care of familial hypercholesterolaemia. Int J Evid Based Healthc. 2013 Jun. 11(2):134-9. [QxMD MEDLINE Link]. [Full Text].
de Ferranti SD, Rodday AM, Mendelson MM, Wong JB, Leslie LK, Sheldrick RC. Prevalence of Familial Hypercholesterolemia in the 1999 to 2012 United States National Health and Nutrition Examination Surveys (NHANES). Circulation. 2016 Mar 15. 133 (11):1067-72. [QxMD MEDLINE Link].
Khachadurian AK, Uthman SM. Experiences with the homozygous cases of familial hypercholesterolemia. A report of 52 patients. Nutr Metab. 1973. 15(1):132-40. [QxMD MEDLINE Link].
Pisciotta L, Priore Oliva C, Pes GM, Di Scala L, Bellocchio A, Fresa R, et al. Autosomal recessive hypercholesterolemia (ARH) and homozygous familial hypercholesterolemia (FH): a phenotypic comparison. Atherosclerosis. 2006 Oct. 188(2):398-405. [QxMD MEDLINE Link].
Williams RR, Hunt SC, Schumacher MC, et al. Diagnosing heterozygous familial hypercholesterolemia using new practical criteria validated by molecular genetics. Am J Cardiol. 1993 Jul 15. 72(2):171-6. [QxMD MEDLINE Link].
Patel MD, Thompson PD. Phytosterols and vascular disease. Atherosclerosis. 2006 May. 186(1):12-9.
[Guideline] 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):111-88. [QxMD MEDLINE Link]. [Full Text].
[Guideline] 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. Circulation. 2019 Jun 18. 139 (25):e1082-143. [QxMD MEDLINE Link]. [Full Text].
Raal FJ, Hovingh GK, Catapano AL. Familial hypercholesterolemia treatments: guidelines and new therapies. Atherosclerosis. 2018 Oct. 277:483-92. [QxMD MEDLINE Link]. [Full Text].
Richter WO, Donner MG, Hofling B, Schwandt P. Long-term effect of low-density lipoprotein apheresis on plasma lipoproteins and coronary heart disease in native vessels and coronary bypass in severe heterozygous familial hypercholesterolemia. Metabolism. 47(7):863-8. [QxMD MEDLINE Link].
Thompsen J, Thompson PD. A systematic review of LDL apheresis in the treatment of cardiovascular disease. Atherosclerosis. 2006 Mar 16. [Epub ahead of print].
Drouin-Chartier JP, Tremblay AJ, Bergeron J, Lamarche B, Couture P. High serum triglyceride concentrations in patients with homozygous familial hypercholesterolemia attenuate the efficacy of lipoprotein apheresis by dextran sulfate adsorption. Atherosclerosis. 2018 Mar. 270:26-32. [QxMD MEDLINE Link].
Sabatine MS, Giugliano RP, Wiviott SD, Raal FJ, Blom DJ, Robinson J, et al. Efficacy and safety of evolocumab in reducing lipids and cardiovascular events. N Engl J Med. 2015 Apr 16. 372 (16):1500-9. [QxMD MEDLINE Link]. [Full Text].
Koren MJ, Giugliano RP, Raal FJ, Sullivan D, Bolognese M, Langslet G, et al. Efficacy and safety of longer-term administration of evolocumab (AMG 145) in patients with hypercholesterolemia: 52-week results from the Open-Label Study of Long-Term Evaluation Against LDL-C (OSLER) randomized trial. Circulation. 2014 Jan 14. 129 (2):234-43. [QxMD MEDLINE Link]. [Full Text].
Langslet G, Emery M, Wasserman SM. Evolocumab (AMG 145) for primary hypercholesterolemia. Expert Rev Cardiovasc Ther. 2015 May. 13 (5):477-88. [QxMD MEDLINE Link].
Raal FJ, Hovingh GK, Blom D, Santos RD, Harada-Shiba M, Bruckert E, et al. Long-term treatment with evolocumab added to conventional drug therapy, with or without apheresis, in patients with homozygous familial hypercholesterolaemia: an interim subset analysis of the open-label TAUSSIG study. Lancet Diabetes Endocrinol. 2017 Apr. 5 (4):280-290. [QxMD MEDLINE Link].
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):131-42. [QxMD MEDLINE Link]. [Full Text].
Cuchel M, Meagher EA, du Toit Theron H, Blom DJ, Marais AD, Hegele RA, 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. 2012 Nov 1. [QxMD MEDLINE Link].
Liu X, Men P, Wang Y, Zhai S, Zhao Z, Liu G. Efficacy and safety of lomitapide in hypercholesterolemia. Am J Cardiovasc Drugs. 2017 Mar 2. [QxMD MEDLINE Link].
Raal FJ, Rosenson RS, Reeskamp LF, et al. Evinacumab for Homozygous Familial Hypercholesterolemia. N Engl J Med. 2020 Aug 20. 383 (8):711-20. [QxMD MEDLINE Link]. [Full Text].
Kane JP, Malloy MJ, Tun P, Phillips NR, Freedman DD, Williams ML, et al. Normalization of low-density-lipoprotein levels in heterozygous familial hypercholesterolemia with a combined drug regimen. N Engl J Med. 1981 Jan 29. 304(5):251-8. [QxMD MEDLINE Link].
Preiss D, Seshasai SR, Welsh P, et al. Risk of incident diabetes with intensive-dose compared with moderate-dose statin therapy: a meta-analysis. JAMA. 2011 Jun 22. 305(24):2556-64. [QxMD MEDLINE Link].
O'Riordan M. Rosuvastatin slows atherosclerosis in FH kids. Heartwire. June 6, 2014. [Full Text].
Braamskamp M, Langslet G, McCrindle BW, et al. Efficacy and safety of rosuvastatin in children aged 6–17 years with familial hypercholesterolemia: findings from the CHARON study (abstract M140). Presented at EAS 2014: The 82nd European Atherosclerosis Society Congress; June 2, 2014; Madrid, Spain.
Braamskamp MJAM, Langslet G, McCrindle BW, et al. Effect of rosuvastatin therapy on carotid intima media thickness in children with familial hypercholesterolemia: findings from the CHARON study. Presented at EAS 2014: The 82nd European Atherosclerosis Society Congress; June 3, 2014; Madrid, Spain.
Ray KK, Bays HE, Catapano AL, et al. Safety and Efficacy of Bempedoic Acid to Reduce LDL Cholesterol. N Engl J Med. 2019 Mar 14. 380 (11):1022-32. [QxMD MEDLINE Link]. [Full Text].
Goldberg AC, Leiter LA, Stroes ESG, et al. Effect of Bempedoic Acid vs Placebo Added to Maximally Tolerated Statins on Low-Density Lipoprotein Cholesterol in Patients at High Risk for Cardiovascular Disease: The CLEAR Wisdom Randomized Clinical Trial. JAMA. 2019 Nov 12. 322 (18):1780-8. [QxMD MEDLINE Link].
Ballantyne CM, Laufs U, Ray KK, et al. Bempedoic acid plus ezetimibe fixed-dose combination in patients with hypercholesterolemia and high CVD risk treated with maximally tolerated statin therapy. Eur J Prev Cardiol. 2019 Jul 29. 2047487319864671. [QxMD MEDLINE Link]. [Full Text].
ODYSSEY outcomes: Evaluation of cardiovascular outcomes after an acute coronary syndrome during treatment with alirocumab SAR236553 (REGN727). ClinicalTrials.gov. NCT01663402. ClinicalTrials.gov. Available at https://clinicaltrials.gov/ct2/show/NCT01663402. 2015 Jul 10; Accessed: July 27, 2015.
Robinson JG, Farnier M, Krempf M, Bergeron J, Luc G, Averna M, et al. Efficacy and safety of alirocumab in reducing lipids and cardiovascular events. N Engl J Med. 2015 Apr 16. 372 (16):1489-99. [QxMD MEDLINE Link].
Kereiakes DJ, Robinson JG, Cannon CP, Lorenzato C, Pordy R, Chaudhari U, et al. Efficacy and safety of the proprotein convertase subtilisin/kexin type 9 inhibitor alirocumab among high cardiovascular risk patients on maximally tolerated statin therapy: The ODYSSEY COMBO I study. Am Heart J. 2015 Jun. 169 (6):906-915.e13. [QxMD MEDLINE Link]. [Full Text].
Santos RD, Ruzza A, Hovingh GK, et al. Evolocumab in Pediatric Heterozygous Familial Hypercholesterolemia. N Engl J Med. 2020 Oct 1. 383 (14):1317-27. [QxMD MEDLINE Link]. [Full Text].
Leqvio (inclisiran) [package insert]. East Hanover, NJ: Novartis Pharmaceutical Companies. December 2021. Available at [Full Text].
Ray KK, Wright RS, Kallend D, et al. Two Phase 3 Trials of Inclisiran in Patients with Elevated LDL Cholesterol. N Engl J Med. 2020 Apr 16. 382 (16):1507-19. [QxMD MEDLINE Link]. [Full Text].
[Guideline] Harada-Shiba M, Ohta T, Ohtake A, et al. Guidance for Pediatric Familial Hypercholesterolemia 2017. J Atheroscler Thromb. 2018 Feb 6. [QxMD MEDLINE Link]. [Full Text].
Cohen DE, Anania FA, Chalasani N,. An assessment of statin safety by hepatologists. Am J Cardiol. 2006 Apr 17. 97(8A):77C-81C. [QxMD MEDLINE Link].
Scandinavian Simvastatin Survival Study. Randomised trial of cholesterol lowering in 4444 patients with coronary heart disease: the Scandinavian Simvastatin Survival Study (4S). Lancet. 1994 Nov 19. 344(8934):1383-9. [QxMD MEDLINE Link].
Jones PH, Davidson MH, Stein EA. Comparison of the efficacy and safety of rosuvastatin versus atorvastatin, simvastatin, and pravastatin across doses (STELLAR* Trial). Am J Cardiol. 2003 Jul 15. 92(2):152-60. [QxMD MEDLINE Link].
Thompson PD, Clarkson PM, Rosenson RS, National Lipid Association Statin Safety Task Force Liver Exert Panel. An assessment of statin safety by muscle experts. Am J Cardiol. 2006 Apr 17. 97(8A):69C-76C.
Bulbulia R, Bowman L, Wallendszus K, et al. Effects on 11-year mortality and morbidity of lowering LDL cholesterol with simvastatin for about 5 years in 20,536 high-risk individuals: a randomised controlled trial. Lancet. 2011 Dec 10. 378(9808):2013-20. [QxMD MEDLINE Link]. [Full Text].
McKenney JM, Davidson MH, Jacobson TA, Guyton JR, National Lipid Association Statin Safety Task Force Liver Expert Panel. Final conclusions and recommendations of the National Lipid Association Statin Safety Assessment Task Force. Am J Cardiol. 2006 Apr 17. 97(8A):89C-94C.
Wending P. FDA pulls approval of niacin, fibrate in combo with statins. Heartwire. 2016 Apr 15. Available at http://www.medscape.com/viewarticle/862022.