高LDL-C浓度与纯合子家族性高胆固醇血症女性心血管疾病增加相关

IF 3.6 3区医学 Q2 PHARMACOLOGY & PHARMACY

Journal of clinical lipidology Pub Date : 2025-01-01 DOI:10.1016/j.jacl.2024.10.008

Martine Paquette MSc , Isabelle Ruel PhD , Simon-Pierre Guay MD, PhD , Zobaida Al-Baldawi MSc , Diane Brisson PhD , Daniel Gaudet MD, PhD , Patrick Couture MD, PhD , Jean Bergeron MD, MSc , Robert A Hegele MD , Gordon A Francis MD , Mark H Sherman MD , Ruth McPherson MD, PhD , Thomas Ransom MD, MSc , Liam R Brunham MD, PhD , GB John Mancini MD , Brian W McCrindle MD MPH , Lulia Latan MD, PhD , Jacques Genest MD , Alexis Baass MD, MSc

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引用次数: 0

摘要

背景：纯合子家族性高胆固醇血症（HoFH）是一种罕见的低密度脂蛋白胆固醇（LDL-C）代谢遗传病。尽管这种疾病对动脉粥样硬化性心血管健康具有毁灭性的影响，但这种疾病的表型和严重程度比以前认为的更为异质性。HoFH患者动脉粥样硬化性心血管疾病（ASCVD）的预测因素从未被系统研究过。目的：探讨HoFH患者ASCVD的单因素和多因素预测因素。方法：来自加拿大HoFH登记处的患者被纳入本回顾性纵向研究。这些患者的数据是在2019年至2022年期间在加拿大19个学术站点使用标准化问卷收集的。使用Cox比例风险模型评估ASCVD的预测因子。结果：48例HoFH患者中，26例（54%）至少发生一次ASCVD事件。基线时的平均年龄为19±15岁，女性占队列的56%。ASCVD事件的独立预测因子为男性（HR 2.57(1.13-5.84)）、糖尿病（HR 16.22(3.38-77.97)）和LDL-C高于中位数14.45 mmol/L [559 mg/dL] （HR 3.10(1.24-7.76)）。当根据性别进行亚组分析时，LDL-C高于中位数的存在与女性ASCVD的概率显著升高相关（88%对43%，p = 0.005），但与男性无关（两组在40岁时均为100%，p = 0.98）。结论：本研究首次报道了HoFH患者ASCVD的单因素和多因素预测因素。我们证明，在LDL-C水平方面，HoFH中ASCVD的预测因子在男性和女性中存在差异。

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Extreme LDL-C concentration is associated with increased cardiovascular disease in women with homozygous familial hypercholesterolemia

BACKGROUND

Homozygous familial hypercholesterolemia (HoFH) is a rare genetic disease of low-density lipoprotein cholesterol (LDL-C) metabolism. Despite the devastating effect of this disease on atherosclerotic cardiovascular health, the disease phenotype and severity are more heterogeneous than previously thought. The predictors of atherosclerotic cardiovascular disease (ASCVD) in HoFH patients have never been systematically studied.

OBJECTIVE

To investigate the univariate and multivariate predictors of ASCVD in HoFH patients.

METHODS

Patients from the Canadian HoFH Registry were included in the present retrospective longitudinal study. Data for these patients were collected using a standardized questionnaire between 2019 and 2022 in 19 academic sites across Canada. Predictors of ASCVD were evaluated using Cox proportional hazards models.

RESULTS

Among 48 HoFH patients, 26 (54%) of them had at least 1 ASCVD event. The average age at baseline was 19 ± 15 years and women represented 56% of the cohort. The independent predictors of ASCVD events were male sex (HR 2.57 [1.13–5.84]), diabetes (HR 16.22 [3.38–77.97]), and LDL-C above the median of 14.45 mmol/L (559 mg/dL) (HR 3.10 [1.24–7.76]). When performing subgroup analysis according to sex, the presence of LDL-C above the median was associated with a significantly higher probability of ASCVD (88% vs 43%, P = .005) in women, but not in men (100% at age 40 in both groups, P = .98).

CONCLUSION

This study reported for the first time the univariate and multivariate predictors of ASCVD in HoFH patients. We demonstrate that predictors of ASCVD in HoFH differ in males and females with respect to LDL-C levels.

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来源期刊

Journal of clinical lipidology 医学-药学

CiteScore

7.00

自引率

6.80%

发文量

209

审稿时长

49 days

期刊介绍： Because the scope of clinical lipidology is broad, the topics addressed by the Journal are equally diverse. Typical articles explore lipidology as it is practiced in the treatment setting, recent developments in pharmacological research, reports of treatment and trials, case studies, the impact of lifestyle modification, and similar academic material of interest to the practitioner. Sections of Journal of clinical lipidology will address pioneering studies and the clinicians who conduct them, case studies, ethical standards and conduct, professional guidance such as ATP and NCEP, editorial commentary, letters from readers, National Lipid Association (NLA) news and upcoming event information, as well as abstracts from the NLA annual scientific sessions and the scientific forums held by its chapters, when appropriate.