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Screening Children for Genetic Disorder That Causes High Cholesterol

CardioSmart News

Early cholesterol screenings could help identify children with a genetic disorder that puts them at increased risk for heart disease, according to a study recently published in the Journal of the American College of Cardiology.

Familial hypercholesterolemia, often referred to as FH, is a condition that causes high levels of LDL or “bad” cholesterol levels beginning at birth. Passed down through families, FH significantly increases risk for heart disease and other heart complications. While FH is present at birth, it often goes undetected until it causes heart problems later in life.

To help detect FH in children sooner rather than later, a universal cholesterol screening was introduced in the country of Slovenia in 1995. Through this initiative, doctors tested children’s cholesterol levels at the age of five in hopes of catching the condition early. Children with high cholesterol and family history of heart disease underwent genetic testing to help further our understanding of FH.

Among children screened between 2009 and 2013, a total of 272 children were identified as at-risk for FH and underwent genetic testing. After analysis, researchers found that three-quarters of the children had a known genetic markers of FH, while the others had no genetic abnormality. Based on screening results, researchers estimate that FH affects 1 in 500 individuals.

The concern, however, is that one-half to three-quarters of children with genetic abnormalities had no family history of heart disease. Family history is often used to identify children that may be at risk for FH, especially in countries that don’t do universal cholesterol screenings in children. However, this study suggests that relying on family history to screen for FH will overlook many children with FH.

Experts highlight the need for additional research about FH. Early screening is the key to helping children with FH reduce risk for heart disease, but how to screen for FH remains controversial. Currently, organizations like the National Heart, Lung and Blood Institute and the American Heart Association all recommend some form of screening for cholesterol disorders in children. However, more evidence is needed to clearly identify what type of screening is best when it comes to identifying individuals with FH.

Read the full article in the Journal of the American College of Cardiology. Learn about CardioSmart's editorial process. Information provided for educational purposes only. Please talk to your health care professional about your specific needs.