russjcardiolРоссийский кардиологический журналRussian Journal of Cardiology1560-40712618-7620«SILICEA-POLIGRAF» LLC10.15829/1560-4071-2024-5874FQIHBMrussjcardiol-5874Research ArticleОБЗОРЫ ЛИТЕРАТУРЫREVIEWСемейная комбинированная гиперлипидемия, современное состояние проблемы (обзор литературы)Familial combined hyperlipidemia: current status of the problem (literature review)https://orcid.org/0000-0002-6584-2060ТимощенкоО. В.TimoshchenkoO. V.

Тимощенко Ольга Владимировна — к. м. н., н. с. лаборатории молекулярно-генетических исследований терапевтических заболеваний, врач-кардиолог.

Новосибирск

Novosibirsk

lentis@yandex.ruhttps://orcid.org/0000-0001-6108-1025ШахтшнейдерЕ. В.ShakhtshneiderE. V.

Шахтшнейдер Елена Владимировна — к. м. н., руководитель сектора изучения моногенных форм распространенных заболеваний человека, ИЦиГ СО РАН; зам. руководителя филиала по научной работе, НИИТПМ – филиал ИЦиГ СО РАН.

Новосибирск

Novosibirsk

2117409@mail.ruНаучно-исследовательский институт терапии и профилактической медицины — филиал ФГБНУ Федеральный исследовательский центр Институт цитологии и генетики Сибирского отделения Российской академии наукРоссияResearch Institute of Therapy and Preventive Medicine — branch of the Federal Research Center Institute of Cytology and GeneticsRussian FederationНаучно-исследовательский институт терапии и профилактической медицины — филиал ФГБНУ Федеральный исследовательский центр Институт цитологии и генетики Сибирского отделения Российской академии наук; ФГБНУ Федеральный исследовательский центр Институт цитологии и генетики Сибирского отделения Российской академии наукРоссияResearch Institute of Therapy and Preventive Medicine — branch of the Federal Research Center Institute of Cytology and Genetics; Federal Research Center Institute of Cytology and GeneticsRussian Federation20241305202429858745874Copyright © Тимощенко О.В., Шахтшнейдер Е.В., 20242024Тимощенко О.В., Шахтшнейдер Е.В.Timoshchenko O.V., Shakhtshneider E.V.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://russjcardiol.elpub.ru/jour/article/view/5874

Среди различных типов дислипидемии семейная комбинированная гиперлипидемия (СКГЛ) является наиболее распространенным генетическим заболеванием, которое характеризуется, по крайней мере, двумя различными формами липидных нарушений: гиперхолестеринемией и гипертриглицеридемией. При наличии СКГЛ значительно повышается риск развития атеросклероз-ассоциированных сердечно-сосудистых заболеваний, в т. ч. в молодом возрасте. Цель работы — выполнить анализ литературных данных о современных критериях диагностики, патогенезе и данных молекулярно-генетических исследований СКГЛ. Будущие исследования, направленные на изучение лежащих в основе СКГЛ генетических и метаболических механизмов и разработку эффективных стратегий лечения, должны включать более крупные когортные исследования с более широким наследственным разнообразием, а также исследование эпигенетических факторов и факторов образа жизни.

Among the various dyslipidemia types, familial combined hyperlipidemia (FCH) is the most common genetic disorder, which is characterized by at least two dif­ferent forms of lipid disorders: hypercholesterolemia and hypertriglyceridemia. In FCH, the risk of atherosclerotic cardiovascular diseases (CVDs), including at a young age, increases significantly. The aim was to analyze literature data on modern criteria for diagnosis, pathogenesis and data from molecular genetic studies of FCH. Future studies aimed at understanding the underlying genetic and metabolic mechanisms of FCH and developing effective treatment strategies should include larger cohort studies with greater genetic diversity, as well as inves­tigation of epigenetic and lifestyle factors.

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The authors declare that there are no conflicts of interest present.