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Povzetek: 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.
Ključne besede: child-parent screening, cascade screening, familial hypercholesterolemia, cardiovascular disease, Slovenia
Objavljeno v DiRROS: 16.12.2025; Ogledov: 92; Prenosov: 51
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Povzetek: Familial hypercholesterolemia (FH) is the most common metabolic disease, with prevalence estimated between 1:250 and 1:300. The affected individuals have a significantly higher risk for developing atherosclerosis and cardiovascular disease (CVD) compared to non-affected individuals. Early CVD can be prevented with early detection and treatment of FH. In Slovenia we have been conducting a national three-staged program of universal screening for FH of preschoolers. Goals: Our goal is to collect data for 5000 children, which is approximately one-quarter of one generation of preschoolers for the year 2023 (n = 5000). Methods: Our study includes both prospective and retrospective components and is a non-interventional cohort study. The prospective component began in 2023, when a questionnaire was distributed to multiple community health centers and outpatient practices in Slovenia. Pediatricians or school medicine specialists completed these questionnaires. The retrospective component involves our research team collecting the remaining necessary data from existing medical records. We are going to follow our algorithm for the implementation of the universal cholesterol screening program and seek all children that will be referred to the Pediatric Lipid Clinic at the University Children’s Hospital, University Medical Centre (UCH-UMC), Ljubljana, for further genetic testing. If a child has a positive genetic result, their parents and siblings will undergo genetic testing. Conclusions: Despite being a common genetic disorder, familial hypercholesterolemia (FH) is still largely underdiagnosed globally; fewer than 10% of affected individuals are thought to be identified. Early detection through effective screening is therefore essential to improve outcomes and prevent premature cardiovascular events.
Ključne besede: hypercholesterolemia, universal screening, preschoolers, total cholesterol, genetic testing
Objavljeno v DiRROS: 11.12.2025; Ogledov: 145; Prenosov: 58
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Povzetek: Background and aims: Coronary artery disease (CAD) is a leading cause of mortality. Depression and anxiety are common in CAD patients and negatively affect quality of life, physical functioning, and adherence to cardiac rehabilitation (CR) programs. This study aimed to identify possible associations with clinically relevant parameters, vascular function and blood biomarkers. Methods: Participants were consecutively recruited during cardiac rehabilitation intake visits at the University Medical Centre Ljubljana within 4 months of myocardial infarction (MI). Hospital Anxiety and Depression Scale (HADS) scores were analyzed in relation to endothelial function (assessed with flow-mediated dilation), arterial stiffness, and blood biomarkers (fibrinogen, endocan, and brain-derived neurotrophic factor [BDNF]) in post-MI patients. All vascular and biomarker assessments were performed within 5 days of questionnaire completion and prior to the start of rehabilitation. Results: There were 105 patients included in the study. The median age was 56 years (49–62), and 80.0% of participants were male. Clinically relevant anxiety and depression were present in 29.5% and 21.9% of participants, respectively. Anxiety was significantly associated with younger age, higher body mass index, and increased arterial stiffness, with total HADS scores negatively correlated with age. Endothelial function showed no significant associations with HADS scores. Vital signs showed no significant differences, except for slightly higher systolic blood pressure in those with clinically relevant depression. Fibrinogen levels were significantly higher in participants with anxiety and depression, while endocan and BDNF levels were lower in those with anxiety. Conclusion: Depression and especially anxiety are significantly associated with endothelial function and relevant biomarkers in post-MI patients. However, as HADS is a screening tool and not a diagnostic instrument, and given the study’s observational design, findings reflect associations rather than causality. Routine screening and targeted mental health support within CR programs might improve participation, enhance cardiovascular recovery, and optimize long-term outcomes. These findings underscore the clinical importance of psychological assessment in the early post-MI period and support the integration of mental health evaluation into cardiovascular care.
Ključne besede: anxiety, depression, cardiac rehabilitation, coronary artery disease, myocardial infarction, pulse-wave velocity, endothelial dysfunction
Objavljeno v DiRROS: 24.11.2025; Ogledov: 165; Prenosov: 94
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Povzetek: Background and aims: Early detection of insulin resistance (IR) and obesity-related complications is crucial for preventing type 2 diabetes. This study aimed to identify dynamic metabolic biomarkers for more precise early detection of IR and metabolic abnormalities. Methods: This cross-sectional cohort study evaluated IR and metabolic biomarkers in 403 children with obesity (median age 13.18 years, 51.3 % female, 98.5 % with obesity) using an enhanced oral glucose tolerance test (eOGTT). IR was assessed via four indices, with the Matsuda Insulin Sensitivity Index (ISI-M) used as the primary measure. Participants were stratified into quartiles based on ISI-M. Results: Participants with the highest IR (Q1) were older (p = 0.002), had a higher body mass index, were in a more advanced pubertal stage (p < 0.001), and had significantly elevated glucose and insulin levels (p < 0.001 for both) compared to the most insulin sensitive (Q4), with significant differences observed across all quartiles (p < 0.050 for all). Insulin at 120 min demonstrated excellent diagnostic accuracy for IR (AUC=0.958). Triglyceride levels in Q1 showed minimal decline during the eOGTT, while greater declines were observed with increasing insulin sensitivity (p = 0.002 across quartiles), suggesting that a lack of decline in triglycerides may help identify IR. High-sensitivity C-reactive protein levels increased with IR (p = 0.024). Baseline beta-hydroxybutyrate levels were highest in the Q4 and showed the greatest absolute decrease during the eOGTT, compared to Q1 (p < 0.001 for both). Conclusions: We validated established IR markers in children with obesity, while demonstrating that eOGTT may offer improved characterization and earlier identification of those at risk for metabolic complications.
Ključne besede: insulin resistance, oral glucose tolerance test, OGTT, metabolic complications, screening, children, adolescents, obesity
Objavljeno v DiRROS: 11.11.2025; Ogledov: 233; Prenosov: 103
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