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

J 2024

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

RASLOVA, Katarina; Viera DONICOVA; Katarina GONOVA; Alexander KLABNIK; Lukáš TICHÝ et. al.

Základní údaje

Originální název

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

Autoři

RASLOVA, Katarina; Viera DONICOVA; Katarina GONOVA; Alexander KLABNIK; Lukáš TICHÝ; Ian BRIDGES; Dagmar BUCKOVA; Marie ZACHLEDEROVA; Tomáš FREIBERGER a Branislav VOHNOUT

Vydání

Journal of Clinical Lipidology, New York, ELSEVIER SCIENCE INC, 2024, 1933-2874

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

30201 Cardiac and Cardiovascular systems

Stát vydavatele

Spojené státy

Utajení

není předmětem státního či obchodního tajemství

Odkazy

URL

Impakt faktor

Impact factor: 4.600

Kód RIV

RIV/00216224:14110/24:00137097

Organizační jednotka

Lékařská fakulta

DOI

https://doi.org/10.1016/j.jacl.2024.03.009

UT WoS

001308114100001

EID Scopus

2-s2.0-85197242889

Klíčová slova anglicky

familial hypercholesterolemia; cholesterol screening

Štítky

14110114, 14110212, rivok

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 30. 1. 2025 09:16, Mgr. Tereza Miškechová

Anotace

V originále

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'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 >188 mg/dL (>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 “possible FH” by DLCN criteria. Of parents, 83.9% (n = 94/112) had an low-density lipoprotein cholesterol (LDL-C) level of >116 mg/dL (>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 >116 mg/dL (>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.

Návaznosti

LX22NPO5104, projekt VaV

Název: Národní institut pro výzkum metabolických a kardiovaskulárních onemocnění (Akronym: CarDia)

Investor: Ministerstvo školství, mládeže a tělovýchovy ČR, Národní institut pro léčbu metabolických a kardiovaskulárních onemocnění, 5.1 EXCELES

Přiložené soubory

Detecting_familial_hypercholesterolemia__An_observational_study_leveraging_mandatory_universal_pediatric_total_cholesterol_screening_in_Slovakia

Citovat

RASLOVA, Katarina; Viera DONICOVA; Katarina GONOVA; Alexander KLABNIK; Lukáš TICHÝ; Ian BRIDGES; Dagmar BUCKOVA; Marie ZACHLEDEROVA; Tomáš FREIBERGER a Branislav VOHNOUT. Detecting familial hypercholesterolemia: An observational study leveraging mandatory universal pediatric total cholesterol screening in Slovakia. Journal of Clinical Lipidology. New York: ELSEVIER SCIENCE INC, 2024, roč. 18, č. 4, s. "e537"-"e547", 11 s. ISSN 1933-2874. Dostupné z: https://doi.org/10.1016/j.jacl.2024.03.009.

@article{2431917,
   author = {Raslova, Katarina and Donicova, Viera and Gonova, Katarina and Klabnik, Alexander and Tichý, Lukáš and Bridges, Ian and Buckova, Dagmar and Zachlederova, Marie and Freiberger, Tomáš and Vohnout, Branislav},
   article_location = {New York},
   article_number = {4},
   doi = {https://doi.org/10.1016/j.jacl.2024.03.009},
   keywords = {familial hypercholesterolemia; cholesterol screening},
   language = {eng},
   issn = {1933-2874},
   journal = {Journal of Clinical Lipidology},
   title = {Detecting familial hypercholesterolemia: An observational study leveraging mandatory universal pediatric total cholesterol screening in Slovakia},
   url = {https://www.sciencedirect.com/science/article/pii/S193328742400045X?via%3Dihub},
   volume = {18},
   year = {2024}
}

TY  - JOUR
ID  - 2431917
AU  - Raslova, Katarina - Donicova, Viera - Gonova, Katarina - Klabnik, Alexander - Tichý, Lukáš - Bridges, Ian - Buckova, Dagmar - Zachlederova, Marie - Freiberger, Tomáš - Vohnout, Branislav
PY  - 2024
TI  - Detecting familial hypercholesterolemia: An observational study leveraging mandatory universal pediatric total cholesterol screening in Slovakia
JF  - Journal of Clinical Lipidology
VL  - 18
IS  - 4
SP  - "e537"-"e547"
EP  - "e537"-"e547"
PB  - ELSEVIER SCIENCE INC
SN  - 19332874
KW  - familial hypercholesterolemia
KW  - cholesterol screening
UR  - https://www.sciencedirect.com/science/article/pii/S193328742400045X?via%3Dihub
N2  - 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'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 >188 mg/dL (>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 “possible FH” by DLCN criteria. Of parents, 83.9% (n = 94/112) had an low-density lipoprotein cholesterol (LDL-C) level of >116 mg/dL (>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 >116 mg/dL (>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.
ER  -

RASLOVA, Katarina; Viera DONICOVA; Katarina GONOVA; Alexander KLABNIK; Lukáš TICHÝ; Ian BRIDGES; Dagmar BUCKOVA; Marie ZACHLEDEROVA; Tomáš FREIBERGER a Branislav VOHNOUT. Detecting familial hypercholesterolemia: An observational study leveraging mandatory universal pediatric total cholesterol screening in Slovakia. \textit{Journal of Clinical Lipidology}. New York: ELSEVIER SCIENCE INC, 2024, roč.~18, č.~4, s.~''e537''-''e547'', 11 s. ISSN~1933-2874. Dostupné z: https://doi.org/10.1016/j.jacl.2024.03.009.

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