HeFH Physical Symptoms in Adults Are Uncommon in Children

A Lancet study found that classic signs of heterozygous familial hypercholesterolemia (HeFH) are rare in children and adolescents. Researchers concluded that diagnosis should be based on LDL-C concentration and genetic confirmation. The study, which included 63,093 individuals in 48 countries, found that universal screening for HeFH in childhood is crucial to narrowing the gap between new cases and detection. Medication and management of children and adolescents with HeFH were found to be insufficient. The research was funded by several pharmaceutical companies, and some study authors had affiliations with these companies. The researchers recommend increased access to LDL-C measurements and genetic testing for universal screening.

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