Evaluation of Cardiovascular Risk Factors In Patients With Familial Hypercholesterolemia From The North-Eastern Area of Romania

Abstract

Background. Familial hypercholesterolemia (FH) is one of the most frequent and important monogenic cholesterol pathology. Traditional and nontraditional cardiovascular risk factors increase the prevalence of atherosclerotic cardiovascular disease (ASCVD) in this population. Objective. To establish the prevalence and the cardiovascular risk factors of FH population, to identify the ASCVD through the clinico-biological and imaging modifications during the 24-months follow-up.Methods. This first prospective study in the north-eastern part of Romania, carried out between October 2017-October 2019, out of 980 patients with dyslipidemia evaluated with the Dutch Lipid Network (DLCN) and Simone Broome (SM) scores, only 61 patients with DLCN score above 3 and FH possible/probably (SM score) were included.Results. The 61 FH subjects recorded a mean age of 48.46±12.53 years, with more women compared to men. Regarding the traditional cardiovascular risk factors, we identified that high blood pressure was the main factor in all patients, followed by sedentary lifestyle, obesity, smoker status, personal cardiovascular history and type 2 diabetes. The measured DLCN score recorded: “possible” FH identified in 39.4%, the “probable”FH in 45.9% and the “definite” FH in 14.7%. After the administration of the lipid-lowering agents for 24 months, TC and LDL-C levels, carotid intima-media thickness (cIMT) and ankle-brachial index (ABI) decreased and HDL-C levels increased, but without reaching the guideline goals. In addition, the high-dose of statin alone, the high-dose of statin with fenofibrate, subjects with „possible” FH, the normal values of cIMT and ABI, had a reduced time of ASCVD occurrence. Also, the high cIMT values, physical inactivity, high TC, TG and high-sensitivity C-reactive protein (hsCRP) levels were associated with an increased risk of ASCVD. Conclusions. To reduce cardiovascular risk, the FH patients need a cascade screening and a specific management. Even though it was the first observational study in the north-eastern part of Romania, further molecular genetics studies are needed to confirm the FH cases.