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. 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, 61 patients with DLCN score above 3 and possible/probable FH(SM score) were included. Nine 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. In 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.

中文翻译：

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罗马尼亚东北部家族性高胆固醇血症患者心血管危险因素评估

家族性高胆固醇血症（FH）是最常见和最重要的单基因胆固醇病理之一。传统和非传统心血管危险因素增加了这一人群中动脉粥样硬化性心血管疾病 (ASCVD) 的患病率。该研究的目的是：(a) 确定罗马尼亚东北部的 FH 患者，并分析人口统计学、临床和副临床数据 (b) 评估分层 FH 患者在随访时发生新心血管事件的风险。通过降脂药物。罗马尼亚东北部的第一项前瞻性研究于 2017 年 10 月至 2019 年 10 月期间进行；在用荷兰脂质网络（DLCN）和西蒙布鲁姆（SM）评分评估的 980 名血脂异常患者中，61 名患者的 DLCN 评分高于 3 并且可能/可能的 FH（SM 评分）。980 名患者接受了检查，61 名（6.2%）接受了 FH 的临床诊断。平均年龄为 48.5±12.5 岁，女性患者多于男性患者（63.9% 对 36%）。高血压是两性的主要心血管危险因素，其次是女性组缺乏身体活动和肥胖，男性组则是主动吸烟。测量的 DLCN 分数记录：“可能”的 FH 为 39.4%，“可能”的 FH 为 45.9%，“确定的”FH 为 14.7%。使用的有效降脂药物是单独使用他汀类药物和他汀类药物与非诺贝特联合使用，可改善血脂值和亚临床动脉粥样硬化标志物（踝臂指数、颈动脉内膜中层厚度和高敏 C 反应蛋白）。研究期间出现的新 ASCVD 最常见的是冠心病和中风。同时，在接受降脂药物治疗的患者中，新的心血管事件发生延迟，两者之间没有显着差异。对于疑似 FH 患者，随访期间的降脂药物延迟了新的心血管事件，但未能达到指南提出的目标。