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 pathologies. Traditional and nontraditional cardiovascular risk factors increase the prevalence of atherosclerotic cardiovascular disease (ASCVD) in this population. Objective. (a)To identify FH patients in the North-Eastern part of Romania and to analyze demographic, clinical and paraclinical data (b)to identify of new cardiovascular events in FH patients throughout the follow-up based on the administrated lipid lowering drugs.Methods. This first prospective study in the North-Eastern part of Romania was carried out between October 2017 and October 2019; out of 980 patients with dyslipidemia evaluated with the Dutch Lipid Network (DLCN) and Simon Broome (SM) scores, only 61 patients with DLCN score above 3 and possible/probable FH (SM score) were included.Results. The 61 FH subjects recorded a mean age of 48.5±12.5 years, with more female patients than male patients. Hypertension was the main cardiovascular risk factor for both sexes, followed by physical inactivity and obesity for the female FH group and active smoker for the male FH group. The measured DLCN score recorded: “possible” FH identified in 39.4%, “probable” FH in 45.9% and “definite” FH in 14.7%. After the administration of the lipid-lowering agents for 24 months, low-density cholesterol lipoprotein(LDL-C) levels and carotid intima-media thickness(cIMT) have decreased, while the ankle-brachial index(ABI) and high-density cholesterol lipoprotein(HDL-C) levels have increased. Also, the cIMT values over 0.9mm, total cholesterol(TC), triglyceride(TG), and high-sensitivity C-reactive protein(hsCRP) levels were associated with an increased risk of ASCVD. In addition, statins administrated in monotherapy have delayed de new cardiovascular events.Conclusions. To obtain a reduction of cardiovascular events, FH patients need cascade screening for early identification and a specific management with possible administration of monoclonal antibodies, despite the significant socio-economic barriers.

Lipoprotein metabolism in familial hypercholesterolemia

“…Likewise, the presence of metabolic disorders such as insulin resistance in obesity and diabetes has shown to further increase the risk of ASCVD in FH. The prevalence of obesity has been reported at around 20% in several FH cohorts, whereas a more variable estimation of type 2 diabetes has been shown across the world, ranging from 1.75% to 25% ( 12 , 19 , 20 , 21 , 22 ). Patients with FH have been found in a number of studies to exhibit lower prevalence of diabetes compared with their unaffected siblings ( 23 ).…”

Molecular Genetic Approach and Evaluation of Cardiovascular Events in Patients with Clinical Familial Hypercholesterolemia Phenotype from Romania

“…This study represents an important step in identifying cases with FH and ASCVD to create a bridge between specialties (cardiology—internal medicine—genetics). Genetic testing is essential to confirm the diagnosis of FH based on clinical and paraclinical components, despite the fact that it is not currently performed in Romania or reimbursed by the Romanian health system [ 52 ]. In the absence of any specific screening program, the percentage of undiagnosed FH carriers may be increased, leading to significant cardiovascular events.…”

“…However, in practice, the diagnosis is based on the calculation of clinical risk scores related to DLCN, Simon Broome, and MedPed criteria. The clinical identification, complemented by genetic recognition of FH patients contributes to the improvement of the management and to the ASCVD decline [ 52 ]. Furthermore, these data must benefit from a special platform patient data and the results of the molecular genetics analyses should be introduced [ 52 ].…”

“…The clinical identification, complemented by genetic recognition of FH patients contributes to the improvement of the management and to the ASCVD decline [ 52 ]. Furthermore, these data must benefit from a special platform patient data and the results of the molecular genetics analyses should be introduced [ 52 ]. Another strength is that the same mutation on exon 11 of the LDLR gene (c.1618G > A) with homozygous status was identified in several patients with FH.…”