Although familial hypercholesterolemia (FH) is a common congenital cause of elevated low-density lipoprotein cholesterol (LDL-C), it remains underdiagnosed and undertreated worldwide due to its inhere Show more
Although familial hypercholesterolemia (FH) is a common congenital cause of elevated low-density lipoprotein cholesterol (LDL-C), it remains underdiagnosed and undertreated worldwide due to its inherent genetic heterogeneity. This study aimed to determine the prevalence of genetic variants in a Lithuanian patient cohort with clinically diagnosed FH and evaluate their possible clinical implications. A total of 172 patients were included in the retrospective analysis. The study population comprised males and females ranging from 0 to 85 years of age, with LDL-C levels exceeding 4.9 mmol/L in adults and 3.9 mmol/L in children. The subjects were divided into four groups according to the Dutch Lipid Clinic Network (DLCN) criteria (definite, probable, possible, and unlikely). Children were analyzed separately. Next-generation sequencing (NGS) has been chosen as the most appropriate technique for genetic testing. All identified variants were categorized into three groups: (1) pathogenic, (2) likely pathogenic, and (3) variants of uncertain significance. Subjects without detected variants were classified into group (4) No mutation. Women were diagnosed with FH significantly later than men ( The increasing use of NGS in FH has enhanced diagnostic capabilities and suggests population-specific genetic patterns. However, it also increases VUS detection, for which reclassification rates are still low and require strenuous efforts. Moreover, despite the benefits of genetic testing, significant gender disparities remain and require further attention. Show less
Cardiovascular diseases (CVDs) remain a leading global cause of mortality and disability, with significant disparities observed across countries. This is particularly true in Central and Eastern Europ Show more
Cardiovascular diseases (CVDs) remain a leading global cause of mortality and disability, with significant disparities observed across countries. This is particularly true in Central and Eastern Europe (CEE), where populations are primarily at high and very high CVD risk. Highlighting modifiable risk factors underscores the urgent need for effective prevention programs. This paper introduces the European Program for Prevention (EPP), an initiative by the International Lipid Expert Panel (ILEP), designed to address these challenges. The EPP aims to enhance awareness and knowledge of validated preventive healthcare solutions implemented in CEE countries, showcase the region's potential for innovative strategies, and evaluate the adaptability of successful programs for broader implementation. The EPP strongly supports the EU Cardiovascular Health Plan, as well as initiatives by the World Heart Federation (WHF) and World Health Organization (WHO), by promoting best practices, early detection, integrated prevention frameworks, training, cross-border cooperation, and policy development. It advocates shifting healthcare priorities towards pre-disease prevention, thus reducing reliance on resource-intensive treatments. The program proposes an optimal CVD prevention system that includes mandatory health education, screening programs for familial hypercholesterolemia and universal Lp(a) screening, and comprehensive check-ups, notably integrated, comprehensive care programs. By leveraging existing validated programs and fostering collaboration, the EPP seeks to reduce the burden of CVD, improve outcomes, and promote cardiovascular health across Europe and beyond. Show less