Mary McGowan, MD, chief medical officer of the Family Heart Foundation explains when it is recommended that children be screened with a lipid profile. 

 

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The American Academy of Pediatrics and the National Heart, Lung, and Blood Institute of the NIH recommend that a lipid profile be performed in children aged 2 years if there is a family history of cardiovascular disease or familial hypercholesterolemia (FH). 

The organizations also recommend that all children between the ages of 9 and 11 years have a lipid profile performed. 

Dr. McGowen notes that only about 5 to 20% of children between these years are currently screened for high cholesterol. The reasons for that are multifactorial, including the lack of support from the US Preventive Service Taskforce that do not recommend screening for lipid disorders in children and adolescents 20 years or younger.

FH, including the more severe homozygous FH (HoFH), is a genetic disorder that results in severe impairment of the low-density lipoprotein receptor (LDL-R). In the case of HoFH, the end result is extremely high levels of cholesterol (i.e., less than 400 mg/dL or 10mmol/L ). These levels are very difficult to control with standard lipid lowering strategies.

In most cases, genetic mutations in both LDLR genes are responsible for the condition.

For more information about this and other rare cardiovascular disorders, visit checkrare.com/diseases/heart-diseases/