Ahmed Mahmoud Bendary
Asst. Professor
Genomic and clinical predictors of cardiovascular disease in Familial dyslipidemia: risk stratification in Egyptian adolescents and young adults
Lipids in Health and Disease • 2025
Publication Information
Authors
Ammal M. Metwally, Nesma M. Elaraby, Wafaa M. Ezzat, Mark O. Dimitry, Ghada A. Elshaarawy, Neveen A. Ashaat, Ashraf Reda, Ahmed Bendary, Mohamed H. Abbas, Tarek R. El Mawardy, Walaa A. Basha, Iman H. Kamel & Engy A. Ashaat
Keywords
Familial Dyslipidemia, Cardiovascular Risk Prediction, Next85 Generation Sequencing, LDLR Variants, Composite Risk Score
Journal
Lipids in Health and Disease
Publisher
Springer Nature
Volume
Not Available
Issue
Not Available
Pages
Not Available
publication.type
International
Paper Link
Open Link
Supplementary Materials
Not Available
Abstract
Familial dyslipidemia (FD), particularly familial hypercholesterolemia (FH), is a major contributor to premature cardiovascular disease (CVD), especially in regions with high consanguinity and underutilized genetic screening, such as Egypt. This study aimed to assess clinical, biochemical, and genetic factors that differentiate FD patients with and without CVD, and to develop a composite risk score for individualized stratification. A cross-sectional study was conducted on 60 Egyptian patients aged 15–25 years with genetically confirmed FD, equally divided based on CVD status. All participants underwent detailed clinical assessment, lipid profiling, and targeted next-generation sequencing of LDLR, APOB, and PCSK9 genes. Missense variants were evaluated using SIFT, PolyPhen-2, CADD, and ΔΔG stability scores, and classified according to ACMG criteria. Compared to non-CVD patients, those with CVD had significantly higher triglyceride levels (median: 356.5 vs. 236.5 mg/dL; p