Description
The Lithuanian national FH screening programme was implemented in 2016 and was created mainly on the basis of the Lithuanian High Cardiovascular Risk (LitHir) primary prevention programme. Opportunistic screening approach guided by increased levels of LDL-C has been chosen as the main method to detect possible index cases in general population. An electronic extraction tool was applied to the database of lipidograms of the LitHiR programme, then statistical analysis of retrospective/cross-sectional data has been performed. During the period of 2009 - 2022, 234,779 lipid profiles of middle-aged individuals in Lithuania were analyzed to identify cases of phenotypically probable familial hypercholesterolemia (FH). Since 2018, selected patients, who signed informed consent forms, have been included in the Lithuanian long-term FH observation programme, which is a part of the EAS-FHSC global registry. The coordinating centre of the programme was set to be the tertiary care hospital with specialized cardiovascular prevention unit - Vilnius university hospital Santaros klinikos; however, patients with FH are referred here for cardiology consultations from across Lithuania. In 2020 Children"s Hospital (affiliate of Vilnius University Hospital Santaros Klinikos) has become a part of the programme. Program launch date
2016-Responsible entity
National Health FundAvailable results and quality metrics
According to LitHir analysis of the period 2009 - 2016, 1 in 67 middle-aged patients have likely FH phenotype in Lithuania. Updated period (2009 - 2022) shows that the prevalence FH-like phenotype in middle-aged Lithuanian population is approximately 1:86. In 2021 Centre of rare diseases of Lithuania has received a grant for 1000 children (from 5 to 10 years) to be screened for FH. The first results are already published (https://pubmed.ncbi.nlm.nih.gov/40282906/). When analysing the data of FH long-term observation programme, the median age at FH diagnosis was 47 years, and 13% of the included patients were diagnosed with coronary artery disease, which is nearly twice the prevalence of CAD in the general Lithuanian population, which was 6.97% in 2022, as estimated based on data available from the Lithuanian Health Education and Disease Prevention Centre.Limitations / comments
Although FH screening programme (based on LitHir programme) provides the opportunity to screen a large portion of the Lithuanian middle-aged population, it is also notable that such participation is still not active enough. Additionally, due to attachment to LitHir, in many cases, this screening model relies heavily on patients" own interest in their health since participation in LitHir is not obligatory. For most patients with FH, dyslipidemia is "silent" and does not cause any symptoms, which may result in some patients being reluctant to adhere to treatment or start treatment altogether. Unfortunately, despite all the efforts, the availability of genetic testing in Lithuania is still limited, as only 30% of patients (who were included in FH long-term observation programme) were able to be tested for FH-causing mutations. Such barriers to screening should not be overlooked and should be addressed in the future.