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

被引:0
|
作者
Paquette, Martine [1 ]
Ruel, Isabelle [2 ]
Guay, Simon-Pierre [1 ,3 ]
Al-Baldawi, Zobaida [4 ]
Brisson, Diane [5 ]
Gaudet, Daniel [5 ]
Couture, Patrick [6 ]
Bergeron, Jean [6 ]
Hegele, Robert A. [7 ,8 ,9 ]
Francis, Gordon A. [10 ,11 ]
Sherman, Mark H. [12 ]
Mcpherson, Ruth [13 ,14 ]
Ransom, Thomas [15 ]
Brunham, Liam R. [10 ,11 ]
Mancini, John [16 ]
Mccrindle, Brian W. [17 ]
Latan, Lulia
Genest, Jacques [2 ]
Baass, Alexis [1 ,18 ,19 ]
机构
[1] Montreal Clin Res Inst, Lipids Nutr & Cardiovasc Prevent Clin, 110 Ave Des Pins Ouest, Montreal, PQ H2W1R7, Canada
[2] Res Inst McGill Univ Hlth Ctr, Montreal, PQ, Canada
[3] Univ Montreal, Dept Med, Div Endocrinol, Montreal, PQ, Canada
[4] McMaster Univ, Michael G DeGroote Sch Med, Hamilton, ON, Canada
[5] ECOGENE 21 Clin & Translat Res Ctr, Chicoutimi, PQ, Canada
[6] Univ Laval, CHU Quebec, Dept Specialized Med, Lipid Clin, Quebec City, PQ, Canada
[7] Western Univ, Dept Med, Schulich Sch Med, London, ON, Canada
[8] Western Univ, Schulich Sch Med, Dept Biochem, London, ON, Canada
[9] Western Univ, Robarts Res Inst, London, ON, Canada
[10] Univ British Columbia, Ctr Heart Lung Innovat, Providence Hlth Care Res Inst, Vancouver, BC, Canada
[11] Univ British Columbia, Dept Med, Vancouver, BC, Canada
[12] McGill Univ, Hlth Ctr, Dept Endocrinol, Montreal, PQ, Canada
[13] Univ Ottawa, Heart Inst, Lipid Clin, Ottawa, ON, Canada
[14] Univ Ottawa, Heart Inst, Atherogenom Lab, Ottawa, ON, Canada
[15] Dalhousie Univ, Queen Elizabeth II Hlth Sci Ctr, Halifax, NS, Canada
[16] Univ British Columbia, Ctr Cardiovasc Innovat, Vancouver, BC, Canada
[17] Univ Toronto, Hosp Sick Children, Labatt Family Heart Ctr, Dept Pediat, Toronto, ON, Canada
[18] McGill Univ, Div Expt Med, Dept Med, Montreal, PQ, Canada
[19] McGill Univ, Dept Med, Div Med Biochem, Montreal, PQ, Canada
关键词
Homozygous; Familial hypercholesterolemia; LDL-C; Cardiovascular; Risk factors; PREVALENCE;
D O I
10.1016/j.jacl.2024.10.008
中图分类号
R9 [药学];
学科分类号
1007 ;
摘要
BACKGROUND: Homozygous familial hypercholesterolemia (HoFH) is arare 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. (c) 2024 National Lipid Association. Published by Elsevier Inc. All rights are reserved, including those for text and data mining, AI training, and similar technologies.
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页码:105 / 113
页数:9
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