Suggested Readings

A randomized controlled trial of genetic testing and cascade screening in familial hypercholesterolemia. 

Ajufo E, deGoma EM, Raper A, Yu KD, Cuchel M, Rader DJ. Genet Med. 2021;23(9):1697-1704.

Bempedoic acid plus ezetimibe fixed-dose combination in patients with hypercholesterolemia and high CVD risk treated with maximally tolerated statin therapy.

Ballantyne CM, Laufs U, Ray KK, et al. Eur J Prev Cardiol. 2020;27(6):593-603.

The lifelong burden of homozygous familial hypercholesterolemia.

Banerjee A, Alothman L, Couture P, et al. Can J Cardiol. 2019;35(10):1419.e1-1419.e4.

Montreal-FH-SCORE predicts coronary artery calcium score in patients with familial hypercholesterolemia.

Béland-Bonenfant S, Paquette M, Fantino M, et al. CJC Open. 2021;3(1):41-47.

Why patients with familial hypercholesterolemia are at high cardiovascular risk? Beyond LDL-C levels.

Bianconi V, Banach M, Pirro M. Trends Cardiovasc Med. 2021;31(4):205-215.

Efficacy and safety of alirocumab in adults with homozygous familial hypercholesterolemia: The ODYSSEY HoFH trial.

Blom DJ, Harada-Shiba M, Rubba P, et al. J Am Coll Cardiol. 2020;76(2):131-142.

Familial hypercholesterolemia: is it time to separate monogenic from polygenic familial hypercholesterolemia?

Brandts J, Dharmayat KI, Ray KK, Vallejo-Vaz AJ. Curr Opin Lipidol. 2020;31(3):111-118.

PCSK9 inhibition with alirocumab in pediatric patients with heterozygous familial hypercholesterolemia: The ODYSSEY KIDS study.

Daniels S, Caprio S, Chaudhari U, et al. J Clin Lipidol. 2020;14(3):322-330.e6.

Long-term safety, tolerability, and efficacy of evolocumab in patients with heterozygous familial hypercholesterolemia.

Hovingh GK, Raal FJ, Dent R, et al. J Clin Lipidol. 2017;11(6):1448-1457.

Challenges in the diagnosis and treatment of homozygous familial hypercholesterolemia.

Ito MK, Watts GF. Drugs. 2015;75(15):1715-1724.

ODYSSEY FH I and FH II: 78 week results with alirocumab treatment in 735 patients with heterozygous familial hypercholesterolaemia.

Kastelein JJP, Ginsberg HN, Langslet G, et al. Eur Heart J. 2015;36(43):2996-3003.

Management of familial hypercholesterolemia: current status and future perspectives.

Lui DTW, Lee ACH, Tan KCB. J Endocr Soc. 2021;5(1):bvaa122.

Familial hypercholesterolemia: new horizons for diagnosis and effective management.

Mytilinaiou M, Kyrou I, Khan M, Grammatopoulos DK, Randeva HS. Front Pharmacol. 2018;9:707.

Cascade screening and treatment initiation in young adults with heterozygous familial hypercholesterolemia.

Peterson AL, Bang M, Block RC, Wong ND, Karalis DG. J Clin Med. 2021;10(14):3090.

Prevention of atherosclerotic cardiovascular disease in children with familial hypercholesterolemia.

Peterson AL, McNeal CJ, Wilson DP. Curr Atheroscler Rep. 2021;23(10):64.

Inhibition of PCSK9 with evolocumab in homozygous familial hypercholesterolaemia (TESLA Part B): a randomised, double-blind, placebo-controlled trial.

Raal FJ, Honarpour N, Blom DJ, et al. Lancet. 2015;385(9965):341-350.

Inclisiran for the treatment of heterozygous familial hypercholesterolemia.

Raal FJ, Kallend D, Ray KK, et al. N Engl J Med. 2020;382(16):1520-1530.

Evinacumab for homozygous familial hypercholesterolemia.

Raal FJ, Rosenson RS, Reeskamp LF, et al. N Engl J Med. 2020;383(8):711-720.

Familial hypercholesterolemia—epidemiology, diagnosis, and screening.

Singh S, Bittner V. Curr Atheroscler Rep. 2015;17(2):482.

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Clinical Practice Guidelines

Genetic testing in dyslipidemia: A scientific statement from the National Lipid Association.

Brown EE, Sturm AC, Cuchel M, et al. J Clin Lipidol. 2020;14(4):398-413.

The agenda for familial hypercholesterolemia: A scientific statement from the American Heart Association.

Gidding SS, Champagne MA, de Ferranti SD, et al. Circulation. 2015;132(22):2167-2192.

Familial hypercholesterolemia: screening, diagnosis and management of pediatric and adult patients: clinical guidance from the National Lipid Association Expert Panel on Familial Hypercholesterolemia.

Goldberg AC, Hopkins PN, Toth PP, et al. J Clin Lipidol. 2011;5(suppl 3):S1-S8.

Consensus statement by the American Association of Clinical Endocrinologists and American College of Endocrinology on the management of dyslipidemia and prevention of cardiovascular disease algorithm—2020 Executive Summary.

Handelsman Y, Jellinger PS, Guerin CK, et al. Endocr Pract. 2020;26(10):1196-1224.

2019 ESC/EAS Guidelines for the management of dyslipidaemias: lipid modification to reduce cardiovascular risk. The Task Force for the management of dyslipidaemias of the European Society of Cardiology (ESC) and European Atherosclerosis Society (EAS).

Mach F, Baigent C, Catapano AL, et al. Eur Heart J. 2020;41(1):111-188.

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.

Nordestgaard BG, Chapman MJ, Humphries SE, et al. Eur Heart J. 2013;34(45):3478-3490..

Enhancing the value of PCSK9 monoclonal antibodies by identifying patients most likely to benefit. A consensus statement from the National Lipid Association. 

Robinson JG, Jayanna MB, Brown AS, et al. J Clin Lipidol. 2019;13(4):525-537.

Clinical genetic testing for familial hypercholesterolemia: JACC Scientific Expert Panel.

Sturm AC, Knowles JW, Gidding SS, et al. J Am Coll Cardiol. 2018;72(6):662-680.

Lipid measurements in the management of cardiovascular diseases: practical recommendations. A scientific statement from the National Lipid Association Writing Group.

Wilson PWF, Jacobson TA, Martin SS. et al. J Clin Lipidol. 2021. [In press.]

Patient and Caregiver Resources

American Heart Association

FH Foundation

National Lipid Association

Related activities
1.50 AMA PRA

Getting Low in Familial Hypercholesterolemia

Reducing LDL-C and a Lifetime of Cardiovascular Risk

Faculty: Michael H. Davidson, MD, FACC, FACP, FNLA; Ann Liebeskind, MD, FAAP, FNLA
Release: 12/17/2021
Expiration: 12/17/2022