Genetic variants and carotid atherosclerosis progression in familial hypercholesterolemia: a comprehensive review
Bekbossynova M. Ivanova-Razumova T. Azatov Y. Sailybayeva A. Khamitov S. Daniyarova G. Akzholova K.
2025Frontiers Media SA
Frontiers in Cardiovascular Medicine
2025#12
Introduction: Familial Hypercholesterolemia is a hereditary metabolic disorder characterized by elevated low-density lipoprotein cholesterol, as high as 1 in 250 individuals, leading to cardiovascular diseases like atherosclerosis. Its caused by autosomal dominant mutations in genes LDL receptor, Apolipoprotein B-100, and proprotein convertase subtilisin/kexin type 9 (PCSK9), FH leads to lifelong elevation of LDL-C. Carotid atherosclerosis, a sign of systemic atherosclerosis, can be studied as a clinical feature of FH, providing insights into its risk assessment, early diagnosis, and intervention. Objective: To determine contribution of specific genetic variants to carotid atherosclerosis, thereby improving our understanding of the genetic basis of cardiovascular risk in FH. Methods: A search was performed through PubMed, Google Scholar, Medline and Scopus databases using the preselected terms. Studies were selected and reviewed based on inclusion and exclusion criteria by two authors independently, with third-party adjudication. Results: Total of 9 trials were included: 4 cross-sectional studies, 4 retrospective cohorts and 1 prospective cohort studies. Total sample size of all reviewed studies was 3,033 in different settings. Studies revealed higher cIMT levels in FH patients and showed significant association of LDLR mutations with severe atherosclerosis. APOB and PCSK9 mutations in this study had limited effect on cIMT levels and prevalence of carotid plaques. Conclusion: This review highlights the essential role of LDLR mutations in progression of carotid artery atherosclerosis among patients with FH. Incorporating information on FH mutations into risk assessment for atherosclerosis patients can help predict disease progression and cardiovascular outcomes more effectively. 2025 Bekbossynova, Ivanova-Razumova, Azatov, Sailybayeva, Khamitov, Daniyarova and Akzholova.
APOB , carotid atherosclerosis , cIMT , familial hypercholesterolemia , LDLR
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“University Medical Center” Corporate Fund, Astana, Kazakhstan
Pediatric Clinical Academic Department, “University Medical Center” Corporate Fund, Astana, Kazakhstan
Cardiology Department № 2, “University Medical Center” Corporate Fund, Astana, Kazakhstan
Research Department, “University Medical Center” Corporate Fund, Astana, Kazakhstan
Nazarbayev University School of Medicine, Astana, Kazakhstan
“University Medical Center” Corporate Fund
Pediatric Clinical Academic Department
Cardiology Department № 2
Research Department
Nazarbayev University School of Medicine
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