The importance of pediatric lipid testing in the diagnosis and treatment of familial hypercholesterolemia
Familial hypercholesterolemia (FH) is a common genetic disorder leading to elevated low density lipoprotein cholesterol (LDL-C) from birth. 
Globally out of 220 children, approximately 1 child has FH, and therefore an increased risk to suffer from early cardiovascular disease, or even early death. 
One in ten premature myocardial infarctions (MI) is caused by FH. 
The Centers for Disease Control and Prevention (CDC) defines FH as a Tier 1 genomic application, i.e., having significant potential for positive impact on public health based on available evidenced-based guidelines and recommendations. 
Yet implementation of evidenced based practices (EBP) for FH screening is suboptimal for many reasons, ranging from lack of FH awareness among both healthcare providers and the public, to the absence of a structured approach to screening, diagnosis and treatment.   
And few health systems have adopted the 2011 recommendations of the National Heart Lung Blood Institute (NHLBI) and the American Academy of Pediatrics (AAP) to conduct universal screening of all children between the ages of 9-11. 
In addition to FH education pediatricians will benefit from point of care (POC) desk top analyzers for use in their offices.
- Recognize the frequency of familial hypercholesterolemia (FH) in the general population. 
- Understand the specific genetics of FH and the benefits of early treatment of hypercholesterolemia associated with this genetic disorder.  
- Recognize that 50% of the first-degree relatives of a person with FH will also have FH.  
- Understand the role of cascade screening in the diagnosis of FH.   
- Recognize the barriers to implementing universal pediatric lipid screening.    
- Recognize the value of point of care (POC) lipid testing in pediatric offices – allowing parents and children to avoid a trip to a laboratory.
Mary McGowan, MD
Familial hypercholesterolemia in 2021
Co-Director Lipid Clinic at Darthmouth Hitchcock Heart and Vascular Center
The impact of FH on families
FH Advocate and Patient
- ↑ McGowan MP, Hosseini Dehkordi SH, Moriarty PM, Duell PB. Diagnosis and Treatment of Heterozygous Familial Hypercholesterolemia. J Am Heart Assoc 2019;8:e013225.
- ↑ Singh A, Gupta A, Collins BL, et al. Familial hypercholesterolemia among young adults with myocardial infarction. J Am Coll Cardiol. 2019;73(19):2439-2450.
- ↑ CDC. Genomics & Precision Health. Tier 1 Genomic Application Toolkit for Public Health Departments. Accessed January 31, 2021. https://www.cdc.gov/genomics/implementation/toolkit/index.htm
- ↑ Knowles JW, Rader DJ, Khoury MJ. Cascade Screening for Familial Hypercholesterolemia and the Use of Genetic Testing. JAMA 2017;318:381-382
- ↑ Lee C, Rivera-Valerio M, Bangash H, Prokop L, Kullo I. New case detection by cascade testing in familial hypercholesterolemia: A systematic review of the literature. Circ Genom Precis Med. 2019;12:e002723.
- ↑ Ferranti SD de et al. Cholesterol Screening and Treatment Practices and Preferences: A Survey of United States Pediatricians. J Pediatr 2017;185:99-105
- ↑ Expert Panal on Integrated Guidelines for Cardiovascular Health and Risk Reduction in Children and Adolescents, National Heart, Lung, and Blood Institute. Expert panel on integrated guidelines for cardiovascular health and risk reduction in children and adolescents: summary report. Pediatrics.2011;128(suppl 5):S213-S256
- ↑ Dixon DB, Kornblum AP, Steffen LM, Zhou X, Steinberger J. Implementation of lipid screening guidelines in children by primary pediatric providers. J Pediatr 2014;164:572-6.
- ↑ Luirink IK, Wiegman A, Kusters DM et al. 20-year follow-up of statins in children with familial hypercholesterolemia. N Engl J Med. 2019;381:1547-56.
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