Evaluation of cardiovascular risk factors in patients with familial hypercholesterolemia from the North-Eastern area of Romania

Cristiana-Elena Vlad,Liliana Foia,Andreea Covic,Irina-Iuliana Costache,Adrian Covic,Laura Florea,Roxana Popescu,Delia Reurean-Pintilei

doi:10.1186/s12944-020-01428-y

Abstract

BackgroundFamilial hypercholesterolemia(FH) is one of the most frequent and important monogenic cholesterol pathologies. Traditional and non-traditional cardiovascular risk factors increase the prevalence of atherosclerotic cardiovascular disease(ASCVD) in this population. The aims of the study were: (a) to identify FH patients in the North-Eastern part of Romania and to analyze demographic, clinical and paraclinical data (b) to evaluate the risk of new cardiovascular events at follow-up in FH patients stratified by lipid-lowering agents.MethodsThis 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, 61 patients with DLCN score above 3 and possible/probable FH(SM score) were included.ResultsNine hundred-eighty patients were examined and 61 (6.2%) were received the clinical diagnosis of FH. The mean age was 48.5±12.5 years, with more female patients than male patients (63.9% versus 36%). Hypertension was the main cardiovascular risk factor for both genders, followed by physical inactivity and obesity for the female group and active smoking for the male group. The measured DLCN score recorded: “possible” FH identified in 39.4%, “probable” FH in 45.9% and “definite” FH in 14.7%. The effective lipid-lowering drugs used were statin alone and statin in association with fenofibrate, which improved both the lipid profile values and the subclinical atherosclerosis markers (ankle-brachial index, carotid intima-media thickness and high-sensitivity C-reactive protein). New ASCVDs that emerged during the study were most commonly represented by coronary heart disease and stroke. At the same time, the new cardiovascular events were delayed in patients receiving the lipid-lowering drugs, without significant differences between them.ConclusionsIn patients with suspected FH, the lipid-lowering agents during the follow-up period delayed the new cardiovascular events, yet failed to reach the goals proposed by the guidelines.

Highlights

Familial hypercholesterolemia(FH) is one of the most frequent and important monogenic cholesterol pathologies
Baseline data of patients with suspected familial hypercholesterolemia (FH) in the NorthEastern part of Romania The study group included 61 patients (6.2% of all patients examined), with a mean age of 48.5 ±12.5 years, all subjects being Caucasian (Fig. 1a. and Fig. 1b.), with a higher number of women compared to men
The laboratory results were: total cholesterol (TC) 315 ± 56 mg/dL, low density lipoprotein cholesterol (LDL-C) 254.2 ± 53 mg/dL, High density cholesterol lipoprotein (HDL-C) 45.8 ± 18 mg/ dL, TG 174.4 ± 92 mg/dL, whereas the lipid profile did not differ according to gender (Table 1)

Summary

Introduction

Familial hypercholesterolemia(FH) is one of the most frequent and important monogenic cholesterol pathologies. Traditional and non-traditional cardiovascular risk factors increase the prevalence of atherosclerotic cardiovascular disease(ASCVD) in this population. The aims of the study were: (a) to identify FH patients in the North-Eastern part of Romania and to analyze demographic, clinical and paraclinical data (b) to evaluate the risk of new cardiovascular events at follow-up in FH patients stratified by lipid-lowering agents. Atherosclerosis can affect the vessels throughout the life of an individual, with several risk factors being significant contributors to the atherosclerotic plaques formation: dyslipidemia, diabetes mellitus, and high blood pressure [1, 2]. The genetic cornerstone of atherosclerotic cardiovascular disease (ASCVD) includes both common deoxyribonucleic acid (DNA) variants (leading to polygenic susceptibility) and rare DNA versions that cause monogenic disorders. There are three available criteria for the clinical diagnosis of FH: the Simon Broome criteria, the Dutch Lipid Clinic Network Criteria (DLCNC) and the MedPed criteria [8, 9]

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