Сравнительный анализ клинико-генетического профиля детей с семейной гиперхолестеринемией в зависимости от наследственного анамнеза ранних сердечно-сосудистых событий: ПЕДИАТРИЯ

Алина Андреевна  Пастухова; Арина Алексеевна  Корнева; Мария Игоревна  Кривошеина; Асият Сайгидовна  Алиева; Татьяна Михайловна  Первунина; Елена Сергеевна  Васичкина

doi:10.56871/

Comparative analysis of clinical and genetic profiles in children with familial hypercholesterolemia according to the family history of early cardiovascular events

PEDIATRICS

Alina A. Pastukhova Almazov National Medical Research Center https://orcid.org/0000-0002-1914-4106
Arina A. Korneva Almazov National Medical Research Center https://orcid.org/0000-0001-6936-2243
Maria I. Krivosheina Almazov National Medical Research Center https://orcid.org/0009-0005-8107-7572
Asiyat S. Aliyeva Almazov National Medical Research Center https://orcid.org/0000-0002-9845-331X
Tatiana M. Pervunina Almazov National Medical Research Center https://orcid.org/0000-0001-9948-7303
Elena S. Vasichkina Almazov National Medical Research Center https://orcid.org/0000-0001-7336-4102

Keywords:

dyslipidemia familial hypercholesterolemia cholesterol children lipoprotein (a) cardiovascular diseases atherosclerosis дислипидемия семейная гиперхолестеринемия холестерин дети липопротеин (а) сердечно-сосудистые заболевания атеросклероз

Abstract

Introduction.For today familial hypercholesterolemia is the most common genetically determined disorder of lipid metabolism associated with a high risk of premature atherosclerotic cardiovascular diseases. Clinical presentation, age of onset, and symptoms vary considerably, even within families. Additional risk factors can further elevate cardiovascular risk in select cases. Early diagnosis and treatment substantially reduce population-level cardiovascular mortality.Aim— to assess the clinical course of familial hypercholesterolemia in high-risk children, compare it with a control group, and identify factors influencing early cardiovascular events.Materials and methods.91 case histories of children with probable/definite familial hypercholesterolemia diagnosis per Simon Broome criteria were analyzed. 11 patients with the most severe family history were selected for detailed study and description. Parental histories were also analyzed.Results.The selected group included 8 boys (72.7%) and 3 girls (27.3%). Mean low-density lipoprotein level was 7.1±1.4 mmol/L; no significant differences were found compared to the control group (p=0.433). Genetic structure: heterozygous forms (63.6%), patients with identified variants in two genes responsible for the development of the disease (27.3%), and one homozygous form (9.1%). High lipoprotein (a) was detected in 6/11 children (54.5%), significantly higher than population average. Group median lipoprotein (a) was 0.42 g/L [0.15–1.09], significantly higher vs. control (p=0.036). Subclinical atherosclerosis signs were found in 10/11 high-risk children, but no intergroup differences.Conclusion.Familial hypercholesterolemia is a high-risk disease; however, it is heterogeneous in terms of phenotypic diversity and different risks within the group due to a wide range of factors that must be taken into account. These include hyperlipoproteinemia (a), a genetic profile (including polygenic), epigenetic factors, and others.

Author Biographies

Alina A. Pastukhova, Almazov National Medical Research Center

pediatric cardiologist, University Maternity and Childhood Clinic, Postgraduate Student, Department of Perinatology and Pediatrics, Institute of Medical Education

Arina A. Korneva, Almazov National Medical Research Center

Clinical Resident in Pediatric Cardiology

Maria I. Krivosheina, Almazov National Medical Research Center

Junior Researcher, Vascular Biology Research Laboratory of the Institute of Molecular Biology and Genetics

Asiyat S. Aliyeva, Almazov National Medical Research Center

Dr. Sci. (Med.), Head of the Research Institute of Lipid Metabolism and Atherosclerosis at Research Institute of Metabolic Syndrome, Head of the Center for Atherosclerosis and Lipid Metabolism Disorders, cardiologist of the highest qualification category

Tatiana M. Pervunina, Almazov National Medical Research Center

Dr. Sci. (Med.), Director of the Institute of Perinatology and Pediatrics, Head of the Department of Perinatology and Pediatrics, Faculty of Postgraduate and Continuing Education, Institute of Medical Education

Elena S. Vasichkina, Almazov National Medical Research Center

Dr. Sci. (Med.), Professor, Department of Perinatology and Pediatrics, Faculty of Postgraduate and Continuing Education, Institute of Medical Education; Project Leader, Laboratory of Cardiovascular Diseases in Children

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Comparative analysis of clinical and genetic profiles in children with familial hypercholesterolemia according to the family history of early cardiovascular events: PEDIATRICS. (2026). Children’s Medicine of the North-West, 14(2), 55-67. https://doi.org/10.56871/

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Comparative analysis of clinical and genetic profiles in children with familial hypercholesterolemia according to the family history of early cardiovascular events: PEDIATRICS. (2026). Children’s Medicine of the North-West, 14(2), 55-67. https://doi.org/10.56871/

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