Cardiac Imaging Unit, Cardiology Department, Universitat Autònoma de Barcelona, Barcelona, Spain.
Am J Cardiol. 2013 Apr 1;111(7):955-61. doi: 10.1016/j.amjcard.2012.12.012. Epub 2013 Jan 19.
Heterozygous familial hypercholesterolemia (HeFH) can be associated with early coronary artery disease (CAD) in asymptomatic patients. The objectives of the present study were to assess the prevalence and magnitude of subclinical CAD in patients with HeFH using coronary computed tomographic angiography (CCTA) and to determine the clinical and genetic profile of those at the greatest risk of CAD. The study included 50 consecutive patients with HeFH diagnosed according to the Dutch Lipid Clinic Network criteria and a control group of 70 healthy subjects. The findings from CCTA for the patients with HeFH were compared with those from the control group, who had been referred for CCTA as a part of a preventive medical examination. In 82% of the patients with HeFH, genetic DNA was screened for low-density lipoprotein receptor (LDLR) gene mutations using a microarray. CCTA revealed a significantly greater Agatston calcium score in the study group than in the control group (260 vs 46; p = 0.002). The prevalence of CAD in the patients with HeFH was 48%. It was significant in 26%, involving mainly the proximal segments of the coronary arteries. In the control group, the prevalence of CAD was 33% and was significant in 5% (p <0.05 for prevalence and severity of CAD compared to patients with HeFH). In those with HeFH, increased age, null allele LDLR mutations, and low high-density lipoprotein blood levels at diagnosis showed a statistically significant association with CAD (p <0.05). In conclusion, patients with HeFH present with a greater prevalence, extension, and severity of subclinical CAD than the general population. Increased age, low high-density lipoprotein levels, and LDLR null allele mutations are related to the occurrence of CAD. CCTA has emerged as a useful technique for the screening of subclinical CAD in patients with HeFH.
杂合子家族性高胆固醇血症（HeFH）可与无症状患者的早期冠状动脉疾病（CAD）相关。本研究的目的是使用冠状动脉计算机断层扫描血管造影（CCTA）评估 HeFH 患者亚临床 CAD 的患病率和严重程度，并确定 CAD 风险最高的患者的临床和遗传特征。该研究纳入了 50 名根据荷兰脂质诊所网络标准诊断的 HeFH 连续患者和 70 名健康对照者。将 HeFH 患者的 CCTA 结果与作为预防性医学检查的一部分接受 CCTA 的对照组进行比较。在 82%的 HeFH 患者中，使用微阵列筛查低密度脂蛋白受体（LDLR）基因突变的遗传 DNA。CCTA 显示研究组的 Agatston 钙评分明显高于对照组（260 对 46；p = 0.002）。HeFH 患者的 CAD 患病率为 48%。在 26%的患者中具有统计学意义，主要涉及冠状动脉近端节段。在对照组中，CAD 的患病率为 33%，在 5%的患者中具有统计学意义（与 HeFH 患者相比，CAD 的患病率和严重程度差异显著，p <0.05）。在 HeFH 患者中，年龄增加、LDLR 基因突变缺失和诊断时高密度脂蛋白水平降低与 CAD 呈显著相关（p <0.05）。总之，HeFH 患者的亚临床 CAD 的患病率、范围和严重程度均高于一般人群。年龄增加、低高密度脂蛋白水平和 LDLR 基因突变缺失与 CAD 的发生有关。CCTA 已成为筛查 HeFH 患者亚临床 CAD 的有用技术。
