20.500.12556/DiRROS-29611 Parallel screening strategies reveal distinct phenotypic and genotypic profiles of familial hypercholesterolemia in children and adults Background: Multiple familial hypercholesterolemia (FH) screening strategies are recommended, but how they work together within a population remains poorly understood. Here, we aimed to compare the characteristics of children diagnosed through a universal screening program with those of adults identified through opportunistic screening. Methods: In this retrospective cross-sectional study, we analyzed the clinical and genetic characteristics of children and adults with genetically confirmed heterozygous FH (HeFH). Results: Out of 442 children and 299 adults with a definite or probable FH based on clinical criteria, 39 (13.0%) adults and 197 (44.6%) children had also a genetic HeFH. FH causative variants were present in low-density lipoprotein receptor (LDLR) in 159 (67.4%) patients and in apolipoprotein B (APOB) in 77 (32.6%) patients. The combined screening approach identified 44 disease-causing variants, of which 2 and 25 were unique to the adult and pediatric cohort, respectively. The proportion of children with missense variants was significantly higher (172 [87.3%] vs. 27 [69.2%]; p = 0.005), whereas the proportion of termination variants was significantly lower (20 [10.2%] vs. 11 [28.2%]; p = 0.002) compared to the adult group. Adults had higher adjusted low-density lipoprotein cholesterol compared to children. Conclusions: Our study suggests that opportunistic adult screening identifies more severe FH phenotypes, while universal pediatric screening detects milder cases. familial hypercholesterolemia adults children genetics universal screening opportunistic screening true false true Angleški jezik Ni določen Neznano 2026-06-01 12:14:42 2026-06-01 12:14:42 2026-06-02 03:48:25 0000-00-00 00:00:00 2026 0 0 Nasl. z nasl. zaslona; Opis vira z dne 13. 5. 2026 str. 1-7 [article no.] ǂ100567 Vol. 65 2026 0000-00-00 Zaloznikova Objavljeno apc 0000-00-00 0000-00-00 0000-00-00 616.1:575 2667-0895 10.1016/j.athplu.2026.100567 278015491 RAZ_Sikonja_Jaka_2026.pdf RAZ_Sikonja_Jaka_2026.pdf 1 9806EE5206259740D075C6143B17CE97 df3cef17b4ed37612de4b08d10133f508ba3ecb754168a2049590a7ac8c46405 e256b1c6-5da2-11f1-8e51-001a4af901a5 https://dirros.openscience.si/Dokument.php?lang=slv&id=44447 https://www.sciencedirect.com/science/article/pii/S2667089526000210 1 b6e43553-5da2-11f1-8e51-001a4af901a5 https://dirros.openscience.si/Dokument.php?lang=slv&id=44446 Univerzitetni klinični center Ljubljana 0 0 0