Child-parent cascade screening for familial hypercholesterolemia in Slovenia : insights from the pilot program

Šikonja, Jaka (avtor), Kobale, Kaja (avtor), Kafol, Jan (avtor), Čugalj Kern, Barbara (avtor), Mlinarič, Matej (avtor), Drole Torkar, Ana (avtor), Kovač, Jernej (avtor), Cevc, Matija (avtor), Fras, Zlatko (avtor), Battelino, Tadej (avtor), Grošelj, Urh (avtor)

Background and aims: Cascade familial hypercholesterolemia (FH) screening of parents could reduce the burden cardiovascular disease (CVD) in relatives of index cases by enabling timely diagnosis of FH. Here, we present the positive outcomes of the pilot child-parent cascade screening program in Slovenia. Methods: One hundred and thirty-eight parents from 123 families of an index child with genetically confirmed FH were randomly included in the pilot child-parent cascade screening program. Index children were identified through the universal FH screening program in preschool children. Genetic testing using Sanger sequencing was performed for cascade screening to detect (likely) pathogenic variants, previously confirmed in the index child. Results: The success rate of confirming a (likely) pathogenic variant was 77.2 % when the first parent, preferably with higher total cholesterol levels, was tested, and reached 99.1 % when the variant was identified in the first tested parent or when both parents were tested. In the minority of cases (13.8 %), parents had had a clinical diagnosis of FH prior to their child and these had somewhat higher prevalence of CVD compared to parents that were diagnosed after their index child through the pilot program (12.5 % vs. 4.3 %; p = 0.382). Conclusions: In conclusion, the presented pilot child–parent cascade screening program is feasible in clinical practice and shows a high success rate in identifying parents with FH. Parents diagnosed through the program appeared to have a lower prevalence of CVD. However, larger cohorts are needed to confirm these findings.

• Jezik: Angleški jezik
• Ključne besede: child-parent screening, cascade screening, familial hypercholesterolemia, FH, cardiovascular disease, Slovenia
• Vrsta gradiva: Članek v reviji
• Tipologija: 1.01 - Izvirni znanstveni članek
• Organizacija: MF - Medicinska fakulteta
• Status publikacije: Objavljeno
• Različica publikacije: Objavljena publikacija
• Leto izida: 2025
• Št. strani: 6 str.
• Številčenje: Vol. 411, art. 120541
• PID: 20.500.12556/RUL-182821
• UDK: 616.4-053.2
• ISSN pri članku: 1879-1484
• DOI: 10.1016/j.atherosclerosis.2025.120541
• COBISS.SI-ID: 257705475
• Datum objave v RUL: 25.05.2026

Gradivo je del revije

• Naslov: Atherosclerosis
• Skrajšan naslov: Atherosclerosis
• Založnik: Elsevier
• ISSN: 1879-1484
• COBISS.SI-ID: 23193093

Licence

• Licenca: CC BY 4.0, Creative Commons Priznanje avtorstva 4.0 Mednarodna
• Povezava: http://creativecommons.org/licenses/by/4.0/deed.sl
• Opis: To je standardna licenca Creative Commons, ki daje uporabnikom največ možnosti za nadaljnjo uporabo dela, pri čemer morajo navesti avtorja.

Projekti

• Financer: ARIS - Javna agencija za znanstvenoraziskovalno in inovacijsko dejavnost Republike Slovenije
• Številka projekta: P3-0343
• Naslov: Etiologija, zgodnje odkrivanje in zdravljenje bolezni pri otrocih in mladostnikih

• Financer: ARIS - Javna agencija za znanstvenoraziskovalno in inovacijsko dejavnost Republike Slovenije
• Številka projekta: J3-2536
• Naslov: Ugotavljanje genetskih vzrokov dislipidemij pri otrocih in mladostnikih ter njihovo zgodnje odkrivanje s populacijskim presejanjem