IMPACT OF APOE POLYMORPHISM IN A FAMILIAL HYPERCHOLESTEROLEMIA POPULATION

Familial hypercholesterolemia is a genetic disease caused by a mutation in one of the genes implied in the low-density lipoprotein (LDL) catabolism, leading to increased seric values of LDL and a very high cardiovascular risk. ApoE is a ligand for the LDL receptor and the polymorphisms at the level of ApoE will alter the lipid profile. Material and methods: A cross-sectional study was conducted in the Cardiovascular Rehabilitation Clinic from Iasi Clinical Rehabilitation Hospital between December 1st, 2020, and December 1st, 2021, including 52 patients with familial hypercholesterolemia in the study group and 17 patients in the control group. Results: In our research, the patients with ApoE4/E4 had the highest lipid profile concentrations. Statistical significance was observed between ApoE2/E3 and ApoE3/E3, ApoE3/E4 and Apo E4/E4 and between ApoE3/E3 and ApoE4/E4 regarding the creatinine clearance in the familial hypercholesterolemia group. In the same group, statistical significance correlations were observed between ApoE3/E3 and ApoE3/E4 for triglycerides concentration, between ApoE3/E3 and ApoE4/E4 for the glycosylated hemoglobin. Conclusions: For a better understanding of the genetic and environmental factors in patients with familial hypercholesterolemia, larger studies are needed, in order to increase their quality of life.