World news – AU – Babies with familial hypercholesterolemia are diagnosed late and are untreated

Video: Dr. Sarah de Ferrante explains the importance of screening for cholesterol in children.
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Babies who are born with a common genetic condition, familial hypercholesterolemia (FH), are at increased risk of developing atherosclerotic cardiovascular disease (ASCVD) early in their lives. Despite long-standing national guidelines, cholesterol screening has not been implemented – for children 2 years old with a family history of heart disease and ages 9 to 11 for all children – .

New data from the FH’s CASCADE FH registry highlight gaps in care for children with FH, published online today in the journal Pediatrics. . Of the approximately 500 children and adolescents with cholesterol, the diagnosis occurred on average at the age of nine years, seven years after cholesterol screening guidelines.

“It is critical to identify children with familial hypercholesterolemia to prevent cardiovascular disease through early intervention,” said Sarah de Ferranti, MD, MPH, Chief of Ambulatory Cardiology, Boston Children’s Hospital, and Director of Registry CASCADE FH Investigator. “The U. s. The guidelines are clear but there is a low level of implementation of these guidelines that puts nearly 300,000 children at risk.

FH causes the level of low-density lipoprotein (LDL-C) cholesterol to rise from birth, which may cause early ASCVD including heart attacks and strokes. Treatment can be started as early as eight years of age and it is recommended to start no earlier than 10 years. A recent long-term study published in the New England Journal of Medicine showed that starting statins in childhood and continuing to take statins into adulthood resulted in reduced cardiovascular events compared to their parents with the same genetic disorder.. .

Young adults on the record began lipid-lowering therapy at an average age of 11 years, with statins being the most popular drug (n = 271; 56. 2%). Additionally, 23. 5% of children eligible for treatment did not receive treatment upon enrollment. Only 39% of young adults achieved the recommended LDL-C reduction according to U. s. International Guidelines (LDL-C

“The consequences are dire when familial hypercholesterolemia is lost, with one in ten heart attacks occurring under the age of 45 due to hypercholesterolemia.. However, the evidence suggests that we can change this paradigm dramatically through early identification and treatment, ”said Katherine Williamon, FH founder and CEO.. . “We will continue to advocate for increased research and awareness of family overgrowth as a common cause of early heart disease in all affected family members..

The CAscade Assay for Awareness and Detection of Familial Hypercholesterolemia (CASCADE FH) is a multi-institution, nationwide observational study that includes the largest group of individuals with hypercholesterolemia in the United States. FH is a common inherited condition that causes high cholesterol in the blood and can lead to early heart disease if left untreated. Only 15 percent of individuals with leukocytosis in the United States are diagnosed today. The FH Foundation has created and maintains the registry to increase awareness of family health opportunities, analyze diagnostic and treatment rates, and monitor clinical outcomes.

The FH Foundation is a leading non-profit research and advocacy organization focused on reducing heart disease by advancing scientific understanding and evidence-based care for familial hypercholesterolemia. Our mission is to save lives by contributing to the scientific research that leads to a greater understanding and improvement in the diagnosis and treatment of FH worldwide.

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Hypercholesterolemia, Cholesterol, High Blood Pressure, and Coronary Artery Disease