20.500.12556/RUL-183397 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 Članek v reviji 2026-06-12 08:49:14 2026-06-12 08:49:17 2026-07-28 12:48:25 0000-00-00 00:00:00 2026 0 0 7 str. art. 100567 Vol. 65 2026 0000-00-00 Zaloznikova Objavljeno NiDoloceno 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 41B75DC6C2903108A690D07224619A40 f8d2f40cacd5bf3736f38d4f71d05df113acac6ae68324baf2c0f0261ef3b01a e574d5c3-7943-11f1-9b0d-0050569b8976 https://repozitorij.uni-lj.si/Dokument.php?lang=slv&id=237192 https://www.sciencedirect.com/science/article/pii/S2667089526000210 1 ceb5e0b5-662a-11f1-9b0d-0050569b8976 https://repozitorij.uni-lj.si/Dokument.php?lang=slv&id=235431 Medicinska fakulteta 0 0 0