Detecting familial hypercholesterolemia: An observational study leveraging mandatory universal pediatric total cholesterol screening in Slovakia

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F65269705%3A_____%2F24%3A00080364" target="_blank" >RIV/65269705:_____/24:00080364 - isvavai.cz</a>

Alternative codes found

RIV/00216224:14110/24:00137097 RIV/00209775:_____/24:N0000019

Result on the web

<a href="https://www.sciencedirect.com/science/article/pii/S193328742400045X?pes=vor" target="_blank" >https://www.sciencedirect.com/science/article/pii/S193328742400045X?pes=vor</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1016/j.jacl.2024.03.009" target="_blank" >10.1016/j.jacl.2024.03.009</a>

Result language

angličtina

Original language name

Detecting familial hypercholesterolemia: An observational study leveraging mandatory universal pediatric total cholesterol screening in Slovakia

Original language description

BACKGROUND: In Slovakia, a mandatory national universal pediatric total cholesterol (TC) screening program is in place to identify cases of familial hypercholesterolemia (FH). However, the program&apos;s effectiveness has not been systematically assessed. OBJECTIVE: This study aimed to estimate the prevalence of FH among parents of children that had elevated TC levels identified during screening. METHODS: This prospective, non-interventional, observational study enrolled parents of 11-year- old children who underwent TC screening in 23 selected pediatric outpatient clinics between 2017 and 2018. FH was diagnosed using the Dutch Lipid Clinic Network (DLCN) criteria and targeted next- generation sequencing. The primary objective was to estimate the proportion of children with a TC level of &gt; 188 mg/dL ( &gt; 4.85 mmol/L) who had a parent with a confirmed diagnosis of FH. RESULTS: A total of 112 parents of 56 children with an elevated TC level were enrolled. Five children (8.9%) had a parent in whom FH was genetically confirmed. Without genetic analysis, all five parents would only be diagnosed with &quot;possible FH&quot; by DLCN criteria. Of parents, 83.9% ( n = 94/112) had an low-density lipoprotein cholesterol (LDL-C) level of &gt; 116 mg/dL ( &gt; 3 mmol/L), but only 5.3% ( n = 5/94) received lipid-lowering therapy. Among the five parents with genetically confirmed FH, all had an LDL-C level &gt; 116 mg/dL ( &gt; 3 mmol/L), with a mean ( +/- SD) of 191 ( +/- 24) mg/dL (4.94 [ +/- 0.61] mmol/L). Only two of these parents received lipid-lowering therapy. CONCLUSIONS: The present study demonstrates the significance of mandatory universal pediatric TC screening in identifying families with FH and other at-risk families in need of lipid-lowering therapy. (c) 2024 National Lipid Association. Published by Elsevier Inc. This is an open access article under the CC BY license ( http://creativecommons.org/licenses/by/4.0/ )

Czech name

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Czech description

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Type

J_imp - Article in a specialist periodical, which is included in the Web of Science database

CEP classification

—

OECD FORD branch

30104 - Pharmacology and pharmacy

Project

<a href="/en/project/LX22NPO5104" target="_blank" >LX22NPO5104: National Institute for Research of Metabolic and Cardiovascular Diseases</a><br>

Continuities

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2024

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Journal of Clinical Lipidology

ISSN

1933-2874

e-ISSN

1876-4789

Volume of the periodical

18

Issue of the periodical within the volume

4

Country of publishing house

US - UNITED STATES

Number of pages

11

Pages from-to

"e537"-"e547"

UT code for WoS article

001308114100001

EID of the result in the Scopus database

2-s2.0-85197242889