Category Ranking
98%
Total Visits
921
Avg Visit Duration
2 minutes
Citations
20
Article Abstract
Objectives: The aim of this study was to validate the Lipochip genetic diagnostic platform by assessing effectiveness, sensitivity, specificity and costs for the identification of patients with familial hypercholesterolemia (FH) in Spain. This platform includes the use of a DNA micro array, the detection of large gene rearrangements and the complete resequencing of the low-density lipoprotein receptor gene.
Design And Methods: DNA samples of patients with clinically diagnosed FH were analyzed for mutations by application of the Lipochip platform. Results obtained were confirmed by DNA sequencing and MLPA analysis by two other, independent laboratories.
Results: Of 808 patients tested, Lipochip detected a mutation in 66% of the cases and of these 78% were detected by the micro array. A specificity of 99.5% at a sensitivity of 99.8% was reached. A positive test result could be reported within 22 days after start of analysis. The total average screening costs of $350 per case were significantly lower compared to other existing screening programs.
Conclusion: Lipochip provides a reliable, fast and cheap alternative for the genetic testing of patients with clinically diagnosed FH.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.clinbiochem.2009.01.017 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Recaticimab in adult heterozygous familial hypercholesterolemia (REMAIN-3): A multicentre, randomised, double-blind, placebo-controlled phase 3 study.
Cardiovasc Res
September 2025
Cardiovascular Medicine, Guangdong Provincial People's Hospital, Guangzhou, China.
Aims: Heterozygous familial hypercholesterolemia (HeFH) is a genetic disorder, characterised by high plasma concentrations of low-density lipoprotein cholesterol (LDL-C) from birth. This study aimed to assess the efficacy and safety of recaticimab, a new humanised anti-PCSK9 antibody capable of reducing LDL-C levels in patients with poorly controlled HeFH.
Methods And Results: REMAIN-3 was a multicentre, randomised, double-blind, placebo-controlled phase 3 study done at 25 sites in China.
Subclassification of Phenotypic Homozygous Familial Hypercholesterolemia.
JACC Asia
September 2025
Cardiovascular Center, Osaka Medical and Pharmaceutical University, Takatsuki, Japan.
Homozygous familial hypercholesterolemia (HoFH) is a rare situation where biallelic genetic disturbance of low-density lipoprotein (LDL) metabolism leads to extreme elevation of LDL cholesterol. There is a great variety of severity in their phenotype, where some patients exhibit premature supravalvular aortic stenosis at their early childhood, whereas others experience myocardial infarction at their adolescence. In addition, there is a set of familial hypercholesterolemia (FH) patients whose phenotype fall into between heterozygous FH and HoFH.
View Article and Find Full Text PDFOne Shock, Not One Cure: Electroporation Reveals Disease-Specific Constraints in Hepatocyte Gene Editing Therapy.
Biology (Basel)
August 2025
Department of Bioengineering, Clemson University, Clemson, SC 29634, USA.
We previously demonstrated lipid nanoparticle-mediated CRISPR-Cas9 gene editing to disrupt the gene encoding cytochrome P450 oxidoreductase (Cypor), combined with transient administration of acetaminophen (APAP), to repopulate the liver with healthy hepatocytes and rescue a phenylketonuria mouse model. This study aimed to investigate electroporation-mediated delivery of -targeting CRISPR-Cas9 ribonucleoproteins into wild-type hepatocytes, combined with liver engraftment under APAP treatment, as an in vivo selection approach in a mouse model of homozygous familial hypercholesterolemia (). Electroporation provides higher delivery efficiency compared to lipid nanoparticles.
View Article and Find Full Text PDFEfficacy and safety of tafolecimab in Chinese patients with familial hypercholesterolemia: a systematic review and meta-analysis of randomized controlled trials.
Ann Med Surg (Lond)
September 2025
Department of Internal Medicine, Faculty of Medicine and Biomedical Sciences of Garoua, University of Garoua, Garoua, Cameroon.
Background: Familial hypercholesterolemia (FH) is a prevalent inherited disorder marked by elevated low-density lipoprotein cholesterol (LDL-C) levels, predisposing individuals to premature cardiovascular disease and related morbidities. Traditional treatments often fail to achieve target LDL-C levels in many patients, necessitating novel therapies. Tafolecimab, a monoclonal antibody targeting PCSK9, shows promise in managing HeFH by enhancing LDL receptor recycling and LDL-C clearance.
View Article and Find Full Text PDFA Personalized Medicine Approach is Best for Patients with Homozygous Familial Hypercholesterolemia.
Med Res Arch
December 2024
Department of Genomic Health, Geisinger, Danville, PA, USA.
Homozygous familial hypercholesterolemia (HoFH) is an autosomal semi-dominant condition characterized by biallelic pathogenic variants impacting low-density lipoprotein receptor (LDLR) function. Affected individuals have severely elevated LDL cholesterol, early onset atherosclerotic heart disease and/or aortic stenosis, and characteristic clinical findings. While the cause is known and diagnosis is relatively simple, real-world HoFH care presents many complexities, including genetic heterogeneity and the diverse personal and social circumstances that influence care.
View Article and Find Full Text PDF