Cascade screening for familial hypercholesterolemia from pediatric index cases diagnosed through universal screening

•Universal cholesterol screens in childhood identify familial hypercholesterolemia.•Pediatric index cases identified 3.55±1.87 family members with FH.•Genetic counseling and genetic testing are underutilized in pediatric FH. Heterozygous familial hypercholesterolemia (HeFH) is an autosomal dominant...

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Veröffentlicht in:Journal of clinical lipidology 2024-07, Vol.18 (4), p.e620-e624
Hauptverfasser: Lentz, Morgan, Benoy, Megan, Zhang, Xiao, Peterson, Amy L.
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Sprache:eng
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Zusammenfassung:•Universal cholesterol screens in childhood identify familial hypercholesterolemia.•Pediatric index cases identified 3.55±1.87 family members with FH.•Genetic counseling and genetic testing are underutilized in pediatric FH. Heterozygous familial hypercholesterolemia (HeFH) is an autosomal dominant disorder causing elevated low density lipoprotein cholesterol (LDL-C) and premature atherosclerotic cardiovascular disease. Universal cholesterol screening in childhood leads to children serving as the index case for their family, but efficacy of cascade screening and genetic counseling in this population is not well understood. The institutional pediatric lipid clinic database was queried from 2011 to 2022 for subjects
ISSN:1933-2874
DOI:10.1016/j.jacl.2024.04.127