News Release

Family Heart Foundation study shows some children with homozygous familial hypercholesterolemia miss out on decades of life-saving treatment

Only children with the most severe HoFH are diagnosed before adulthood, putting those not identified early at risk for heart disease at a young age findings presented in poster at AAP National Conference

Reports and Proceedings

Family Heart Foundation

ANAHEIM, Calif., Oct. 11, 2022 – The Family Heart Foundation, a leading research and advocacy organization, shared results from an analysis of patients in its CASCADE FH® Registry showing that children with homozygous familial hypercholesterolemia (HoFH) are diagnosed earlier and have much higher untreated low-density lipoprotein cholesterol (LDL-C) than adults with HoFH. The data raises the possibility that only children with the most severe cases of HoFH are being diagnosed early. In addition, others who may have somewhat lower LDL-C are not identified early and miss out on decades of life-saving treatment, which could lead to heart disease earlier in life. The findings were presented in a poster titled, “Characterization of Children with Homozygous Familial Hypercholesterolemia from the CASCADE FH Registry,” at the American Academy of Pediatrics (AAP) National Conference & Exhibition on Oct. 7-11 in Anaheim, Calif.


Findings showed that the median age for developing cardiac disease was 8.9 years, and the earliest reported diagnosis of cardiac disease occurred at ages 2 and 3 years in children who underwent curative liver transplants at 4 and 8 years respectively. HoFH, a rare genetic condition characterized by extremely elevated levels of serum LDL-C, affects both children and adults. People with HoFH have a risk of premature atherosclerotic cardiovascular disease (ASCVD) as early as the first decade of life. Many children do not have physical findings suggestive of HoFH and the only way to determine they have HoFH is to do a lipid panel or genetic testing.


“These findings and recent improvement in lipid lowering therapies make a compelling case for rigorous compliance with AAP’s guidelines on lipid screening for children with a family history of FH or ASCVD at age 2,” said Mary P. McGowan, M.D., chief medical officer, Family Heart Foundation, and study co-author. “This should be followed by cascade family screening. Unfortunately, even routine screening between ages 9 and 11 as recommended by the AAP is not the standard in the United States. There is a clear need to implement universal screening so that all children with HoFH and the less severe heterozygous familial hypercholesterolemia (HeFH) are consistently identified.”


The analysis included a total of 67 HoFH patients enrolled at sites participating in the CASCADE FHÒ registry, a multi-site patient registry created in 2013 by the Family Heart Foundation that tracks the characteristics, treatment patterns and clinical events in HeFH and HoFH patients in the U.S. The current data compares 16 HoFH pediatric patients (<18 years old) to 51 adults. At time of enrollment into the CASCADE registry, nearly 19% and 44% of the children had evidence of aortic valve stenosis and cardiac disease, respectively.


About Familial Hypercholesterolemia

Familial hypercholesterolemia (FH) is a common life-threatening genetic condition that causes high cholesterol from birth. As many as 1 in 250 people are estimated to have HeFH. There are two forms of FH: Heterozygous Familial Hypercholesterolemia (HeFH) and Homozygous Familial Hypercholesterolemia (HoFH). HoFH is the most serious and more rare form of FH. It is estimated that HoFH affects as many as 1 in 300,000 people around the world. A person who has HoFH has inherited two FH genes, one from each parent. If untreated, the LDL-C level is typically between 400-1000 mg/dL, four to ten times more than the normal level.


About the Family Heart Foundation

The Family Heart Foundation is a non-profit research and advocacy organization. The Foundation is a pioneer in the application of real-world evidence, patient-driven advocacy, and multi-stakeholder education to help prevent heart attacks and strokes caused by FH and elevated Lipoprotein(a), two common genetic disorders that have an impact across generations. The Family Heart Foundation conducts innovative research to break down barriers to diagnosis and management of inherited lipid disorders; educates patients, providers, and policy makers; advocates for change; and provides hope and support for families impacted by heart disease and stroke caused by FH, HoFH, and high Lp(a). The organization was founded in 2011 as the FH Foundation. For more information, visit and follow us on TwitterFacebookInstagram and LinkedIn.

# # #

Disclaimer: AAAS and EurekAlert! are not responsible for the accuracy of news releases posted to EurekAlert! by contributing institutions or for the use of any information through the EurekAlert system.