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Genetic factors of familial hyperlipidemia and prevention of cardiovascular diseases
Todorovová, Veronika ; Češka, Richard (advisor) ; Blaha, Vladimír (referee) ; Karásek, David (referee)
Familial hyperlipidemias are still a current cause of premature development of atherosclerotic cardiovascular disease (ASCVD). Heredity plays an important role in the development of these diseases. Genetic testing helps to specify a definite variant of a given disease and thus the degree of genetic family burden. Together with the clinical examination, it defines the exact diagnosis of the patient and reduces the risk of developing ASCVD in individual specialized care. In the theses, we focused on biochemical and genetic differences and their risk factors for the development of ASCVD in long-term monitored patients with familial hypercholesterolemia (FH), in receptor-mediated FH and familial defect of apolipoprotein B- 100 (FDB). Efficacy, safety, and tolerability of therapy were evaluated in a subgroup of FH patients with PCSK9i therapy. Furthermore, the polygenic genetic risk score (GRS) in patients with the APOE2E2 genotype and its influence on the early detection of the development of familial dysbetalipoproteinemia (FD) were analyzed. Receptor-mediated FH patients carry a mutation in LDLR while FDB patients have a prevalent mutation in APOB. LDL-C and TC levels are high in both groups, although levels are slightly higher in receptor-mediated FH patients. APOE genotype and risk factors such as...
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