Organization of dispensary and dynamic observation of children with heterozygous familial hypercholesterolemia: the experience of the Republic of Tatarstan

Familial hypercholesterolemia is the most common monogenic hereditary disease in which abnormally high cholesterol levels in the blood are observed since childhood. There is currently no unified approach to monitoring and stratifying cardiovascular risk for children with familial hypercholesterolemia in Russia.

Aim of the study: to develop a monitoring program for children with heterozygous familial hypercholesterolemia based on a 3-year prospective observation.

Materials and methods. From 2017 to 2024, a comparative prospective longitudinal cohort study was conducted at the Children’s Lipidology Center of the Republican Children’s Clinical Hospital of the Ministry of Health of the Republic of Tatarstan (Kazan). The study involved 243 children aged 5 to 17 years: 122 children diagnosed with «familial hypercholesterolemia, heterozygous form» and 121 healthy children. The children were divided into 3 age subgroups: 5–7 years, 8–12 years, 13–17 years. Special examination methods included: study of endothelin-1 level, total concentration of stable nitric oxide metabolites, apolipoprotein A1, apolipoprotein B, lipoprotein (a), high-sensitivity C-reactive protein, determination of average pulse wave velocity in the aorta, assessment of the intima-media complex of the common carotid artery.

Results. Concentrations of apolipoprotein A1 and apolipoprotein B, lipoprotein (a) and high-sensitivity C-reactive protein were significantly higher in the main group and did not change with the age of the patients. The values of the intima-media thickness of the common carotid artery and pulse wave velocity, endothelin-1 level depended on the age of children with familial hypercholesterolemia. The obtained results determined the existence of regular differences in the strategy of management of patients with familial hypercholesterolemia in childhood and allowed to scientifically substantiate the program of observation of patients with heterozygous familial hypercholesterolemia in childhood.

Conclusion. The proposed algorithm will allow to register early signs of vascular remodeling and to draw up a plan of personalized observation of a child with familial hypercholesterolemia.

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