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Children with familial hypercholesterolemia are late in diagnosis and inadequately treated

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Children with familial hypercholesterolemia are late in diagnosis and inadequately treated

Guidelines for children with familial hypercholesterolemia are not consistently implemented. Children with FH treated with statins showed the greatest reduction in LDL cholesterol.Credit: FH Foundation

Children born with familial hypercholesterolemia (FH), a common genetic condition, are at increased risk of atherosclerotic cardiovascular disease (ASCVD) early in life. Despite many years of national guidelines, cholesterol screening (2 years for children with a family history of heart disease, 9-11 years for all children) has not been performed.

New data from the FH Foundation’s CASCADEFH registry highlights care gaps Published online today with FH Pediatrics journal. Diagnosis occurred on average at age 9 years among approximately 500 children and adolescents with FH. Guidelines.

“It’s important to identify the child To prevent “The US guidelines are clear, but the level of implementation of these guidelines is low,” said Sara de Ferranti, MD, Chief of Outpatient Cardiology at Boston Children’s Hospital and Principal Investigator at the CASCADE FH Registry. It puts nearly 300,000 children at risk. “

FH causes high levels of low-density lipoprotein cholesterol (LDL-C) from birth and, if left untreated, can cause early ASCVD, such as heart attack and stroke. Treatment can begin as early as 8 years old and is recommended to start by 10 years old. One of the recent long-term studies published in the New England Journal of Medicine is that starting statins in childhood and continuing statins into adulthood reduces cardiovascular events compared to parents with the same genetic disorder. Showed to do.

Dr. Sara de Ferranti explains the importance of screening children for cholesterol.Credit: FH Foundation

On average, young people in the registry started lipid-lowering therapy at the age of 11 and statins were the most frequently reported drug therapy (n = 271; 56.2%). In addition, 23.5% of children treated were untreated at the time of enrollment. According to US and International Guidelines (LDL-C), only 39% of young people achieved the recommended LDL-C reduction.

Catherine Willemon, Founder and CEO of the FH Foundation, said: .. “We continue to advocate research and increased awareness of FH as a common cause of early-stage heart disease in all members of the affected family.”


Familial hypercholesterolemia in children and adolescents: diagnosis and treatment


For more information:
Sarah D. de Ferranti et al, Children with Heterozygous Familial Hypercholesterolemia in the United States: Data from Cascade Screening for Consciousness and Detection-FH Registry, Pediatric Journal (2020). DOI: 10.1016 / j.jpeds.2020.09.042

Provided by the Familial Hypercholesterolemia Foundation

Quote: Children with familial hypercholesterolemia are late in diagnosis and inadequately treated (November 18, 2020), and on November 18, 2020 https://medicalxpress.com/news/2020-11- Obtained from children-familial-hypercholesterolemia-late-under-treatment.html.

This document is subject to copyright. No part may be reproduced without written permission, except for fair transactions for personal investigation or research purposes. The content is provided for informational purposes only.

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