Although HeFH occurs in 1 in ~250 individuals and HoFH in 1 in ~250,000 individuals, the true prevalence of FH may not be fully understood, as both forms may be asymptomatic.1-5
Listen to a conversation between two FH experts below.

The importance of early FH diagnosis
Dr Don P. Wilson, MD, FNLA, and Dr Jason V. Terk, MD, discuss the underdiagnosis of FH despite its prevalence in the US, and how to help support its diagnosis in practice.

Guidelines and recommendations
Further reading for more information on pediatric lipid screening and FH diagnosis.

The National Heart, Lung and Blood Institute: Guidelines for cardiovascular health and risk reduction in children and adolescents
Guidelines recommend lipid screening for all children aged between 9 and 11 years. Screening may be performed as early as age 2 if there is a family history of high blood cholesterol levels, heart attack, or stroke.6
Visit resource
The American Heart Association: The agenda for familial hypercholesterolemia
Recommendations for heterozygous FH and homozygous FH diagnosis.5
Visit resourceThe organizations listed are independent non-profit organizations.
Their inclusion here does not imply endorsement by Regeneron nor does it imply endorsement of Regeneron or this resource center.
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References
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de Ferranti SD et al. J Pediatr 2017;185:99–105.
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McGowan MP et al. J Am Heart Assoc 2019;8:e013225.
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Raal FJ et al. Atherosclerosis 2018;277:483–492.
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Cuchel M et al. Eur Heart J 2023;44:2277-2291.
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Gidding SS et al. Circulation 2015;132:2167–2192.
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Expert Panel on Integrated Guidelines for Cardiovascular Health and Risk Reduction in Children and Adolescents. Pediatrics 2011;128:S213–S256.