Prevalence of premature coronary artery disease (CAD) according to genetic familial hypercholesterolaemia (FH) diagnosis in Lithuania

Abstract

Background and Aims : FH is known to be a predisposing cause of premature CAD. We aimed to determine the distribution of premature CAD according to genetic diagnosis of FH in Lithuania.Methods: Prospective observational cohort study enrolled patients with clinically diagnosed FH according to Dutch Lipid Clinic Network (DLCN) criteria treated in Vilnius University Hospital Santaros Klinikos during the period of 2016-2021. Premature CAD was defined as occuring in men younger than 55 years and women younger than 60 years. Data of 60 study patients were included in the analysis. Obstructive Atherosclerotic CAD was defined as the presence of stenosis ≥50% in at least one coronary vessel in Coronary Computed Tomography Angiography (CCTA) or coronary angiography, as well as performed percutaneous coronary intervention (PCI) or coronary arteries bypass grafting (CABG). Genetic testing was performed using genomic DNA, which was enzymatically fragmented, and regions of interest were enriched using DNA capture probes. The final indexed libraries were sequenced on an Illumina platform. The prevalence of CAD according to genetic diagnosis of FH was analysed. Statistical analysis was performed using R (v. 4.0.4) program package.Results: Of 60 examined patients 28,3% (n=17) had the genetic diagnosis of FH and 71,7% (n=43) had no FH mutation. Premature CAD was found in 47% (n=8) patients with genetic diagnosis of FH and in 19% (n=8) with no mutations determined (p=0,049).Conclusions: Premature CAD was more prevalent among patients with genetically confirmed FH. Background and Aims : FH is known to be a predisposing cause of premature CAD. We aimed to determine the distribution of premature CAD according to genetic diagnosis of FH in Lithuania. Methods: Prospective observational cohort study enrolled patients with clinically diagnosed FH according to Dutch Lipid Clinic Network (DLCN) criteria treated in Vilnius University Hospital Santaros Klinikos during the period of 2016-2021. Premature CAD was defined as occuring in men younger than 55 years and women younger than 60 years. Data of 60 study patients were included in the analysis. Obstructive Atherosclerotic CAD was defined as the presence of stenosis ≥50% in at least one coronary vessel in Coronary Computed Tomography Angiography (CCTA) or coronary angiography, as well as performed percutaneous coronary intervention (PCI) or coronary arteries bypass grafting (CABG). Genetic testing was performed using genomic DNA, which was enzymatically fragmented, and regions of interest were enriched using DNA capture probes. The final indexed libraries were sequenced on an Illumina platform. The prevalence of CAD according to genetic diagnosis of FH was analysed. Statistical analysis was performed using R (v. 4.0.4) program package. Results: Of 60 examined patients 28,3% (n=17) had the genetic diagnosis of FH and 71,7% (n=43) had no FH mutation. Premature CAD was found in 47% (n=8) patients with genetic diagnosis of FH and in 19% (n=8) with no mutations determined (p=0,049). Conclusions: Premature CAD was more prevalent among patients with genetically confirmed FH.