Delayed FH diagnosis can increase the risk of complications1

If left undetected and untreated, FH could lead to myocardial infarctions by age 40 in those with HeFH,2 and premature atherosclerotic cardiovascular disease in the first decade of life in those with HoFH.3,4

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 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

Early intervention and appropriate intervention can change the trajectory of FH.1

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The American Heart Association: The agenda for familial hypercholesterolemia

Recommendations for heterozygous FH and homozygous FH diagnosis.5

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The organizations listed are independent non-profit organizations.
Their inclusion here does not imply endorsement by Regeneron nor does it imply their endorsement of Regeneron or this resource center.

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References

  1. Nordestgaard et al. Eur Heart J 2013;34:3478-90a.

  2. Luirink IK et al. N Engl J Med 2019;381:1547-1556.

  3. Cuchel M et al. J Am Heart Assoc 2023;12:e029175.

  4. Family Heart Foundation. https://familyheart.org/new-research-children-and-hofh (accessed February 2024).

  5. Gidding SS et al. Circulation 2015;132:2167–2192.