| Abstract [eng] |
Cardiovascular diseases (CVDs) remain the leading cause of death in Lithuania, with dyslipidemia being one of the major risk factors. Severe hypercholesterolemia (LDL-C ≥ 6 mmol/l) affects 3.2% of adults, suggesting a high prevalence of familial hypercholesterolemia (FH), which remains largely underdiagnosed and undertreated. FH is a genetic disorder characterized by elevated LDL-C levels leading to premature atherosclerosis and increased CVD risk. To address this, the Lithuanian national FH screening programme was launched in 2016, mainly based on the LitHiR primary prevention programme, marking the first national initiative for systematic FH detection. Coordinated by Vilnius University Hospital Santaros Klinikos, the programme collaborates with national and international partners, including the EAS-FHSC Global Registry, ScreenProFH and others. The Lithuanian long-term FH observation programme, implemented since 2018 as a part of EAS-FHSC Global Registry, aims to improve early diagnosis, treatment, and follow-up of FH patients. This study evaluates FH prevalence in Lithuania, develops recommendations for detection, diagnosis, and long-term monitoring, and explores associations between clinical, genetic, and arterial markers to reduce premature cardiovascular morbidity and mortality. |
