AI Article Synopsis
Article Abstract
Background And Aims: Familial hypercholesterolaemia (FH) and elevated plasma lipoprotein(a) [Lp(a)] are inherited conditions independently associated with atherosclerotic cardiovascular disease. This study investigated the detection of new cases of elevated Lp(a) during cascade testing of relatives of probands with a definite diagnosis of FH and elevated Lp(a) (≥50 mg/dL).
Methods: Relatives from 62 adult probands were tested for FH genetically and for elevated Lp(a) using an immunoassay. The prevalence and yield of new cases of FH with or without elevated Lp(a) among relatives and the association between the detection of elevated Lp(a) and the Lp(a) concentration of the probands were assessed.
Results: Among 162 relatives tested (136 adults and 26 children), the prevalence of FH and elevated Lp(a) was 60.5% and 41.4%, respectively: FH alone was detected in 31.5%, elevated Lp(a) alone in 12.3%, FH with elevated Lp(a) in 29.0%, and neither disorder in 27.2% of the relatives. Cascade testing detected a new case of FH, elevated Lp(a) and FH with elevated Lp(a) for every 1.5, 2.1 and 3.0 relatives tested, respectively. The proportion of relatives detected with elevated Lp(a) was significantly higher when tested from probands with Lp(a) ≥100 mg/dL compared with those from probands with Lp(a) between 50 and 99 mg/dL (53% vs 34%, p = 0.018). The concordance between the detection of FH and elevated Lp(a) was 56.2% (kappa statistic 0.154), indicating a poor agreement.
Conclusions: A dual approach to cascade testing families for FH and high Lp(a) from appropriate probands can effectively identify not only new cases of FH, but also new cases of elevated Lp(a) with or without FH. The findings accord with the co-dominant and independent heritability of FH and Lp(a).
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.atherosclerosis.2021.11.004 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Unveiling the Synergy of Serum Lipoprotein-Associated Phospholipase A2 and PLA2G7 Gene Polymorphism (rs1805017) as Key Determinants of Coronary Artery Disease Risk and Severity: Implications for Early Intervention.
Cureus
November 2024
Biochemistry, Nizam's Institute of Medical Sciences, Hyderabad, IND.
Background Lipoprotein-associated phospholipase A2 (Lp-PLA2) is a key enzyme selectively expressed in unstable, rupture-prone atherosclerotic plaques. Previous research has established a strong link between the gene and the development of coronary artery disease (CAD). While traditional risk factors like cholesterol levels and blood pressure are valuable, there remains a need for more specific biomarkers to identify individuals at heightened risk of atherosclerosis before the onset of clinical symptoms.
View Article and Find Full Text PDFAssociation of white matter hyperintensities with lipoprotein (a) levels: insights from a cohort study.
Front Neurol
December 2024
Neuroscience Center, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Background: Little is known about the relationship between lipoprotein (a) [Lp(a)] and cerebral white matter hyperintensities (WMH). The aim of the study was to examine if elevated Lp(a) levels are associated with higher burden of WMH.
Methods: We retrospectively investigated associations between Lp(a) and the burden of WMH among patients with confirmed diagnosis of acute ischemic stroke or transient ischemic attacks.
The role of lysophosphatidic acid and its receptors in corneal nerve regeneration.
Ocul Surf
December 2024
Laboratory of Experimental Ophthalmology, Department of Ophthalmology, Pius-Hospital, School of Medicine and Health Sciences, Carl von Ossietzky University Oldenburg, Germany.
The integrity of corneal nerves is critical for ocular surface health, and damages can lead to Neurotrophic Keratopathy (NK). Despite the regenerative abilities of the peripheral nerve system (PNS), corneal nerve regeneration is often incomplete, and the underlying mechanisms are poorly understood. This study aims to identify potential factors that can enhance corneal nerve regeneration for NK treatment, with a focus on Lysophosphatidic acid (LPA).
View Article and Find Full Text PDFNew cardiovascular disease markers in patients with familial hypercholesterolemia carriers of genetic variants.
J Diabetes Metab Disord
June 2025
Faculdade de Medicina, Universidade Federal de Minas Gerais, Belo Horizonte, Minas Gerias Brazil.
Objectives: Familial hypercholesterolemia (FH) is an autosomal dominant genetic disease characterized by elevated levels of low-density lipoprotein cholesterol (LDLc). The early diagnosis of FH can reduce unfavorable outcomes in this population, but genetic study is not available in all populations. This study aimed to evaluate new cardiovascular plasma markers (GDF-15, CXCL16, FABP3, FABP4, LIGHT, sCD14, ucMGP), as well as Lp(a) levels, in individuals genetically characterized for FH, classified according to treatment with statins.
View Article and Find Full Text PDFCorrelation Between Lipoprotein(a) and Prognosis for Coronary Artery Disease in Patients Undergoing Percutaneous Coronary Intervention.
Tex Heart Inst J
December 2024
Department of Cardiology, Daping Hospital, The Third Military Medical University (Army Medical University), Chongqing, People's Republic of China.
Background: Elevated lipoprotein(a) (Lp[a]) is a risk factor for first atherosclerotic thrombosis events, but the role of elevated Lp(a) in secondary prevention is controversial. This study aimed to retrospectively investigate the influence of elevated Lp(a) levels on the prognosis of patients with coronary artery disease.
Methods: The team collected and compared clinical information of patients hospitalized during percutaneous coronary intervention (PCI).
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!