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| http://dx.doi.org/10.11604/pamj.2018.30.29.15719 | DOI Listing |
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Screening for Subclinical Atherosclerosis in Patients with Familial Hypercholesterolemia: Insights and Implications.
J Clin Med
January 2025
Institute of Cardiology, Istanbul University-Cerrahpaşa, 34098 Istanbul, Türkiye.
: Familial hypercholesterolemia (FH) is a monogenic dyslipidemia that leads to early cardiovascular events. Subclinical atherosclerosis refers to the formation of atheromatous plaques in arterial beds before any clinical events. In our study, we investigated the presence, extent, and independent predictors of subclinical atherosclerosis among patients diagnosed with FH.
View Article and Find Full Text PDF25-Year Comparison of Coronary Lesions Anatomy in Two Cohorts of French Canadians with Familial Hypercholesterolemia.
J Clin Med
January 2025
Department of Medicine, Université de Montréal and ECOGENE-21, Chicoutimi, QC G7H 7K9, Canada.
Over the past decades, new treatments and guidelines have been introduced for the screening and management of familial hypercholesterolemia (FH). However, the impact of these medical and scientific advances on the characteristics and burden of coronary lesions over time in FH remains poorly documented. The primary goal of this study is to determine the characteristics of coronary lesions in HeFH patients who underwent coronary angiography within two distinct timeframes: the last five years versus those who had the procedure at the same hospital 25 years earlier.
View Article and Find Full Text PDFExploring the impact of insurance switching on the cost-effectiveness of population genetic screening for familial hypercholesterolemia to US payers.
J Clin Lipidol
December 2024
University of North Carolina at Chapel Hill, UNC Eshelman School of Pharmacy, 301 Pharmacy Lane, Chapel Hill, NC 27599, USA.
Background: Widespread familial hypercholesterolemia screening requires a large upfront economic investment, but the health benefits and cost savings of cardiovascular disease prevention directed by screening occur over many years.
Objective: We evaluated the cost-effectiveness of population genetic screening for familial hypercholesterolemia compared to cascade testing to US payers while accounting for patient insurance switching between commercial and Medicare insurance.
Methods: We developed a hybrid decision-tree Markov model to assess genetic screening in 20-year-old adults over a lifetime horizon in which cohort members transitioned between commercial payers representing three commercial plans and Medicare.
Novel 327bp Alu element insertion in LDLR exon 17 causes alternative splicing and familial hypercholesterolemia.
J Clin Lipidol
December 2024
Academy of Scientific and Innovative Research (AcSIR), Ghaziabad, 201002, India; Apollo Genomics Institute, Indraprastha Apollo Hospital, New Delhi, 110076, India. Electronic address:
Background: Homozygous familial hypercholesterolemia (HoFH) is a severe form of familial hypercholesterolemia (FH), characterized by high low-density lipoprotein cholesterol (LDL-C) levels and increased coronary artery disease risk. This study reports a novel Alu insertion in the LDLR gene in a consanguineous Indian family, causing FH.
Objective: To identify and characterize the mutation causing HoFH in a proband and their family members.
Genomic Drivers of Coronary Artery Disease and Risk of Future Outcomes After Coronary Angiography.
JAMA Netw Open
January 2025
Department of Medicine, Harvard Medical School, Boston, Massachusetts.
Importance: Disease characteristics of genetically mediated coronary artery disease (CAD) on coronary angiography and the association of genomic risk with outcomes after coronary angiography are not well understood.
Objective: To assess the angiographic characteristics and risk of post-coronary angiography outcomes of patients with genomic drivers of CAD: familial hypercholesterolemia (FH), high polygenic risk score (PRS), and clonal hematopoiesis of indeterminate potential (CHIP).
Design, Setting, And Participants: A retrospective cohort study of 3518 Mass General Brigham Biobank participants with genomic information who underwent coronary angiography was conducted between July 18, 2000, and August 1, 2023.
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