Universal screening for familial hypercholesterolemia in 2 populations.

Autor:	Sustar U; Department of Endocrinology, Diabetes and Metabolism, University Children's Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia; Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia., Kordonouri O; Children's Hospital Auf der Bult, Janusz-Korczak-Allee, Hanover, Germany., Mlinaric M; Department of Endocrinology, Diabetes and Metabolism, University Children's Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia., Kovac J; Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia; Clinical Institute of Special Laboratory Diagnostics, University Children's Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia., Arens S; Children's Hospital Auf der Bult, Janusz-Korczak-Allee, Hanover, Germany., Sedej K; Unit Siska, Community Health Centre Ljubljana, Ljubljana, Slovenia., Jenko Bizjan B; Clinical Institute of Special Laboratory Diagnostics, University Children's Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia., Trebusak Podkrajsek K; Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia; Clinical Institute of Special Laboratory Diagnostics, University Children's Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia., Danne T; Children's Hospital Auf der Bult, Janusz-Korczak-Allee, Hanover, Germany., Battelino T; Department of Endocrinology, Diabetes and Metabolism, University Children's Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia; Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia., Groselj U; Department of Endocrinology, Diabetes and Metabolism, University Children's Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia; Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia; Division of Cardiovascular Medicine, Department of Medicine, Stanford University, Stanford, CA. Electronic address: urh.groselj@kclj.si.
Jazyk:	angličtina
Zdroj:	Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Oct; Vol. 24 (10), pp. 2103-2111. Date of Electronic Publication: 2022 Aug 01.
DOI:	10.1016/j.gim.2022.06.010
Abstrakt:	Purpose: In Europe, >2 million individuals with familial hypercholesterolemia (FH) are currently undiagnosed. Effective screening strategies for FH diagnosis in childhood are urgently needed. We assessed the overall performances of 2 different FH screening programs in children: universal screening program with opt-out and opt-in type participation. Methods: We analyzed the data from 2 independent populations based on >166,000 individuals screened for hypercholesterolemia. Genetic analyses of FH-related genes were finalized in 945 children and 99 parents. Results: A total of 305 (32.3%) children were genotyped as positive or with a variant of uncertain significance in FH-related genes. For low-density lipoprotein cholesterol levels of 3.5 mmol L (135.3 mg/dL), the overall sensitivity and specificity for confirming FH were 90.5% and 55.3%, respectively. As part of child-parent screening, in >90% of the families, the parent with reported higher cholesterol levels was positive for the familial genetic variant. The cohort-based prevalence of FH from the opt-out universal screening program was estimated to be 1 in 431 individuals (95% CI = 1/391-1/472). Conclusion: Universal 3-step FH screening approach in children enabled detection of most children and their parents in every generation screened at reasonable costs. Opt-out screening strategy might be preferable over opt-in screening strategy. Competing Interests: Conflict of Interest The authors declare no conflicts of interest. (Copyright © 2022 American College of Medical Genetics and Genomics. Published by Elsevier Inc. All rights reserved.)
Databáze:	MEDLINE
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