Wang Cheng, Yu Puliang, Hu Lizhi, Liang Minglu, Mao Yi, Zeng Qiutang, Wang Xiang, Huang Kai, Yan Jin, Xie Li, Zhang Fengxiao, Zhu Feng
Department of Cardiology, Tongji Medical College, Union Hospital, Huazhong University of Science and Technology, Wuhan, China.
Clinic Center of Human Gene Research, Tongji Medical College, Union Hospital, Huazhong University of Science and Technology, Wuhan, China.
Front Cardiovasc Med. 2022 Jul 27;9:921803. doi: 10.3389/fcvm.2022.921803. eCollection 2022.
Familial hypercholesterolemia (FH) can elevate serum low-density lipoprotein cholesterol (LDL-C) levels, which can promote the progression of acute coronary syndrome (ACS). However, the effect of FH on the prognosis of ACS remains unclear.
In this prospective cohort study, 223 patients with ACS having LDL-C ≥ 135.3 mg/dL (3.5 mmol/L) were enrolled and screened for FH using a multiple-gene FH panel. The diagnosis of FH was defined according to the ACMG/AMP criteria as carrying pathogenic or likely pathogenic variants. The clinical features of FH and the relationship of FH to the average 16.6-month risk of cardiovascular events (CVEs) were assessed.
The prevalence of molecularly defined FH in enrolled patients was 26.9%, and coronary artery lesions were more severe in patients with FH than in those without (Gensini score 66.0 vs. 28.0, respectively; < 0.001). After lipid lowering, patients with FH still had significantly higher LDL-C levels at their last visit (73.5 ± 25.9 mg/dL vs. 84.7 ± 37.1 mg/dL; = 0.013) compared with those without. FH increased the incidence of CVEs in patients with ACS [hazard ratio (HR): 3.058; 95% confidence interval (CI): 1.585-5.900; log-rank < 0.001].
FH is associated with an increased risk of CVEs in ACS and is an independent risk factor for ACS. This study highlights the importance of genetic testing of FH-related gene mutations in patients with ACS.
家族性高胆固醇血症（FH）可升高血清低密度脂蛋白胆固醇（LDL-C）水平，这会促进急性冠状动脉综合征（ACS）的进展。然而，FH对ACS预后的影响仍不清楚。
在这项前瞻性队列研究中，纳入了223例LDL-C≥135.3mg/dL（3.5mmol/L）的ACS患者，并使用多基因FH检测板对其进行FH筛查。FH的诊断根据ACMG/AMP标准定义为携带致病性或可能致病性变异。评估了FH的临床特征以及FH与平均16.6个月心血管事件（CVE）风险的关系。
入选患者中分子定义的FH患病率为26.9%，FH患者的冠状动脉病变比非FH患者更严重（Gensini评分分别为66.0和28.0；<0.001）。降脂治疗后，FH患者在最后一次就诊时的LDL-C水平仍显著高于非FH患者（73.5±25.9mg/dL对84.7±37.1mg/dL；=0.013）。FH增加了ACS患者发生CVE的发生率[风险比（HR）：3.058；95%置信区间（CI）：1.585 - 5.900；对数秩检验<0.001]。
FH与ACS患者发生CVE的风险增加相关，是ACS的独立危险因素。本研究强调了对ACS患者进行FH相关基因突变基因检测的重要性。
