• Je něco špatně v tomto záznamu ?

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

K. Raslova, V. Donicova, K. Gonova, A. Klabnik, L. Tichy, I. Bridges, D. Buckova, M. Zachlederova, T. Freiberger, B. Vohnout

. 2024 ; 18 (4) : e537-e547. [pub] 20240329

Jazyk angličtina Země Spojené státy americké

Typ dokumentu časopisecké články, pozorovací studie

Perzistentní odkaz   https://www.medvik.cz/link/bmc24019860

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.

Citace poskytuje Crossref.org

000      
00000naa a2200000 a 4500
001      
bmc24019860
003      
CZ-PrNML
005      
20241024111051.0
007      
ta
008      
241015s2024 xxu f 000 0|eng||
009      
AR
024    7_
$a 10.1016/j.jacl.2024.03.009 $2 doi
035    __
$a (PubMed)38955586
040    __
$a ABA008 $b cze $d ABA008 $e AACR2
041    0_
$a eng
044    __
$a xxu
100    1_
$a Raslova, Katarina $u Metabolic Center, Ltd, Coordination for Familial Hyperlipidemias, Slovak Medical University, Bratislava, Slovakia (Dr Raslova). Electronic address: raslova.katarina@gmail.com
245    10
$a Detecting familial hypercholesterolemia: An observational study leveraging mandatory universal pediatric total cholesterol screening in Slovakia / $c K. Raslova, V. Donicova, K. Gonova, A. Klabnik, L. Tichy, I. Bridges, D. Buckova, M. Zachlederova, T. Freiberger, B. Vohnout
520    9_
$a 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.
650    _2
$a lidé $7 D006801
650    12
$a hyperlipoproteinemie typ II $x diagnóza $x epidemiologie $x krev $x genetika $7 D006938
650    _2
$a dítě $7 D002648
650    _2
$a mužské pohlaví $7 D008297
650    _2
$a ženské pohlaví $7 D005260
650    12
$a cholesterol $x krev $7 D002784
650    12
$a plošný screening $x metody $7 D008403
650    _2
$a prospektivní studie $7 D011446
650    _2
$a dospělí $7 D000328
650    _2
$a LDL-cholesterol $x krev $7 D008078
650    _2
$a rodiče $7 D010290
651    _2
$a Slovenská republika $x epidemiologie $7 D018154
655    _2
$a časopisecké články $7 D016428
655    _2
$a pozorovací studie $7 D064888
700    1_
$a Donicova, Viera $u Outpatient Department of Internal Medicine and Diabetology, Košice, Slovakia (Dr Donicova)
700    1_
$a Gonova, Katarina $u Internal Outpatient Clinic, MedPed Lipid Clinic, Piestany, Slovakia (Dr Gonova); Faculty of Public Health, Slovak Medical University, Bratislava, Slovakia (Dr Gonova)
700    1_
$a Klabnik, Alexander $u Cardiology Outpatient Clinic, MedPed Lipid Clinic, Namestovo, Slovakia (Dr Klabnik)
700    1_
$a Tichy, Lukas $u Centre of Molecular Biology and Genetics, Department of Internal Medicine - Hematology and Oncology, University Hospital Brno, Brno, Czech Republic (Dr Tichy); Medical Faculty, Masaryk University, Brno, Czech Republic (Drs Tichy and Freiberger)
700    1_
$a Bridges, Ian $u Amgen UK Ltd, Uxbridge, United Kingdom (Dr Bridges)
700    1_
$a Buckova, Dagmar $u Amgen Slovakia s.r.o., Bratislava, Slovakia (Dr Buckova)
700    1_
$a Zachlederova, Marie $u Amgen Czech Republic s.r.o., Prague, Czech Republic (Dr Zachlederova)
700    1_
$a Freiberger, Tomas $u Medical Faculty, Masaryk University, Brno, Czech Republic (Drs Tichy and Freiberger); Centre of Cardiovascular Surgery and Transplantation, Brno, Czech Republic (Dr Freiberger). Electronic address: tomas.freiberger@cktch.cz
700    1_
$a Vohnout, Branislav $u Diabetes and Lipid Outpatient Clinic, Diabeda s.r.o., Bratislava, Slovakia (Dr Vohnout); Coordination Center for Familial Hyperlipidemias, Institute of Nutrition, Department of Diabetes, Slovak Medical University, Bratislava, Slovakia (Dr Vohnout); Department of Epidemiology, School of Medicine, Comenius University, Bratislava, Slovakia (Dr Vohnout). Electronic address: bvohnout@yahoo.com
773    0_
$w MED00166943 $t Journal of clinical lipidology $x 1933-2874 $g Roč. 18, č. 4 (2024), s. e537-e547
856    41
$u https://pubmed.ncbi.nlm.nih.gov/38955586 $y Pubmed
910    __
$a ABA008 $b sig $c sign $y - $z 0
990    __
$a 20241015 $b ABA008
991    __
$a 20241024111045 $b ABA008
999    __
$a ok $b bmc $g 2202209 $s 1231833
BAS    __
$a 3
BAS    __
$a PreBMC-MEDLINE
BMC    __
$a 2024 $b 18 $c 4 $d e537-e547 $e 20240329 $i 1933-2874 $m Journal of clinical lipidology $n J Clin Lipidol $x MED00166943
LZP    __
$a Pubmed-20241015

Najít záznam

Citační ukazatele

Možnosti archivace