Prognostic impact of cascade screening for familial hypercholesterolemia on cardiovascular events
Prognostic impact of cascade screening for familial hypercholesterolemia on cardiovascular events
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DOI：
10.1016/j.jacl.2020.12.012
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发表时间：
2021-06-04
影响因子：
4.4
通讯作者：
Kawashiri, Masa-aki
中科院分区：
文献类型：
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作者：
Tada, Hayato;Okada, Hirofumi;Kawashiri, Masa-aki
背景技术背景：家族性高胆固醇血症（FH）是一种常染色体显性遗传疾病，主要由低密度脂蛋白（LDL）受体或相关基因突变引起，导致血清胆固醇水平升高和过早发生动脉粥样硬化性心血管疾病（ASCVD）的风险增加。目的：我们的目的是评估级联筛查对FH预后的影响。方法：我们回顾性调查了1050例临床诊断为FH的患者的健康记录，包括经级联筛查的先证者及其亲属，他们被转诊到我们研究所。我们使用考克斯模型，对已建立的ASCVD风险因素进行调整，以评估级联筛查与主要不良心脏事件（MACE）之间的相关性。评估MACE的中位随访期为12.3年（四分位距[IQR] = 9.1-17.5年），MACE包括与ASCVD或急性冠脉综合征相关的死亡。结果：在观察期间，113名参与者发生了MACE。通过级联筛选确定的患者平均年龄比先证者年轻18岁（38.7岁对57.0岁，P，0.0001），ASCVD风险因素比例较低。有趣的是，与先证者相比，通过级联筛选确定的轻度降脂治疗的患者发生MACE的风险降低（风险比[HR] = 0.67; 95%CI = 0.44 - 0.90; P = 0.0044），即使调整了已知的风险因素，包括年龄和既往ASCVD。结论：通过级联筛选确定FH患者似乎预后较好。(c)2020年国家脂质协会。All rights reserved.
BACKGROUND: Familial hypercholesterolemia (FH) is an autosomal dominant disorder mainly caused by mutations in the low-density lipoprotein (LDL) receptor or associated genes, resulting in elevated serum cholesterol levels and an increased risk of premature atherosclerotic cardiovascular disease (ASCVD). OBJECTIVE: We aimed to evaluate the prognostic impact of cascade screening for FH. METHODS: We retrospectively investigated the health records of 1050 patients with clinically diagnosed FH, including probands and their relatives who were cascade-screened, who were referred to our institute. We used Cox models that were adjusted for established ASCVD risk factors to assess the association between cascade screening and major adverse cardiac events (MACE). The median period of follow-up evaluating MACE was 12.3 years (interquartile ranges [IQR] = 9.1-17.5 years), and MACE included death associated with ASCVD, or acute coronary syndrome. RESULTS: During the observation period, 113 participants experienced MACE. The mean age of patients identified through cascade screening was 18-years younger than that of the probands (38.7 yr vs. 57.0 yr, P , 0.0001), with a lower proportion of ASCVD risk factors. Interestingly, patients identified through cascade screening under milder lipid-lowering therapies were at reduced risk for MACE (hazard ratio [HR] = 0.67; 95%CI = 0.44 to 0.90; P = 0.0044) when compared with the probands, even after adjusting for those known risk factors, including age, and prior ASCVD. CONCLUSIONS: The identification of patients with FH via cascade screening appeared to result in better prognosis. (c) 2020 National Lipid Association. All rights reserved.