Often unseen but potentially deadly:
Familial hypercholesterolemia can be hidden in plain sight1

Despite its prevalence2, less than 10% of people living with FH have received a formal diagnosis in the US3

Explore our resources to discover what you can do about improving diagnosis of FH and the importance of early detection for its rare, homozygous form, HoFH.

FH exists in heterozygous and homozygous forms. The heterozygous form is characterized by LDL-C levels of ≥160 mg/dL for children and ≥190 mg/dL for adults, while the rarer homozygous form is characterized by even higher LDL levels (>400 mg/dL from childhood)1,4
FH awareness

Pediatric lipid screening rates and awareness of FH are limited in the US2

Although HeFH occurs in 1 in ~250 individuals and HoFH in
1 in ~250,000 individuals, the true prevalence of FH may not be grasped, as the more common heterozygous form is often asymptomatic in nature.1,2,4-6 Discover the actionable steps to raise awareness of FH and its rare form, HoFH.

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Pediatric lipid screening

Early pediatric lipid screening supports early diagnosis and intervention in FH5

By initiating lipid screening at a young age, HCPs can proactively identify children who may be at risk for FH or other lipid disorders.5 Explore ways to implement pediatric lipid screening in practice.

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Early diagnosis

Early diagnosis and intervention can change the trajectory of FH5

Identification of FH at an early stage helps optimize patient care.5 Delve deeper into FH to support early diagnosis.

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Impact of delayed diagnosis

Delayed FH diagnosis can increase the risk of complications7

If left undetected and untreated, FH could lead to myocardial infarctions by age 40 in those with HeFH,8 and premature atherosclerotic cardiovascular disease in the first decade of life in those with HoFH.9,10

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References

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

  2. de Ferranti SD et al. J Pediatr 2017;185:99–105.

  3. Banda JM et al. NPJ Digit Med 2019;2:23.

  4. Raal FJ et al. Atherosclerosis 2018;277:483–492.

  5. McGowan MP et al. J Am Heart Assoc 2019;8:e013225.

  6. Cuchel M et al. Eur Heart J 2023;44:2277-2291.

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

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

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

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