FACTOR XIII V34L POLYMORPHISM IN A POPULATION OF PATIENTS WITH FAMILIAL HYPERCHOLESTEROLEMIA FROM NORTH-EASTERN ROMANIA

FACTOR XIII V34L POLYMORPHISM IN A POPULATION OF PATIENTS WITH FAMILIAL HYPERCHOLESTEROLEMIA FROM NORTH-EASTERN ROMANIA ( Abstract): Familial hypercholesterolemia (FH) is one of the most frequent inherited genetic disorders of the cholesterol metabolism that has an autosomal dominant or multifactorial inheritance. Factor XIII is also called the factor that stabilizes the fibrin, being an enzyme that makes the bond between the fibrin molecules during the clot formation. The gene for factor XIII is localized on 6p24-25 and can suffer a substitution in 103G>T position (V34L polymorphism), that can decrease the stability of the clot, offering protection for thromboembolic events and a decreased risk for myocardial infarction and coronary artery disease. Materials and methods: A cross-sectional study was conducted in the Cardiovascular Rehabilitation Clinic from the Clinical Rehabilitation Hospital from Iasi from 1st December 2020 to 31st of March 2022, included 70 patients diagnosed with certain FH based on the Dutch Lipid Clinical Network score (DLCN) and 20 patients in the control group. Results: The homozygous patients had the highest values of the corrected LDL-C and the heterozygous patients had the lowest total bilirubin concentrations. The patients included in the control group that had the homozygous variant had the lowest total cholesterol and non-HDL concentrations. Conclusions: This approach enables the implementation of targeted management and treatment approaches to effectively mitigate the risks associated with this condition. The costs of genetic testing decrease over time, the significance of this information is likely to increase even further.