medsovetМедицинский СоветMeditsinskiy sovet = Medical Council2079-701X2658-5790REMEDIUM GROUP Ltd.10.21518/ms2026-016medsovet-9907Research ArticleШКОЛА ПЕДИАТРАPEDIATRICIAN SCHOOLКомплексный калькулятор риска для детей с гетерозиготной семейной гиперхолестеринемиейComprehensive risk calculator for children with heterozygous familial hypercholesterolemiahttps://orcid.org/0000-0002-0058-3803ПшеничниковаИ. И.PshenichnikovaI. I.

Пшеничникова Ирина Игоревна - к.м.н., доцент кафедры педиатрии имени академика Г.Н. Сперанского, РМАНПО; педиатр, Детская ГКБ им. З.А. Башляевой; специалист организационно-методического отдела по педиатрии, НИИОЗММ.

125993, Москва, ул. Баррикадная, д. 2/1, стр. 1; 125373, Москва, ул. Героев Панфиловцев, д. 28; 115088, Москва, ул. Шарикоподшипниковская, д. 9

Irina I. Pshenichnikova - Cand. Sci. (Med.), Associate Professor of the Department of Pediatrics named after Academician G.N. Speransky, Russian Medical Academy of Continuing Professional Education; Pediatrician, Bashlyaeva Children’s City Clinical Hospital; Specialist of the Organizational and Methodical Department of Paediatrics, Research Institute of Healthcare Organization and Medical Management.

2/1, Bldg. 1, Barrikadnaya St., Moscow, 125993; 28, Geroyev Panfilovtsev St., Moscow, 125373; 9, Sharikopodshipnikovskaya St., Moscow, 115088

PshenichnikovaII@rmapo.ruhttps://orcid.org/0000-0003-4200-4598ЗахароваИ. Н.ZakharovaI. N.

Захарова Ирина Николаевна - д.м.н., профессор, заслуженный врач РФ, заведующая кафедрой педиатрии имени академика Г.Н. Сперанского.

125993, Москва, ул. Баррикадная, д. 2/1, стр. 1

Irina N. Zakharova - Dr. Sci. (Med.), Professor, Honored Doctor of the Russian Federation, Head of the Department of Pediatrics named after G.N. Speransky, Russian Medical Academy of Continuous Professional Education.

2/1, Bldg. 1, Barrikadnaya St., Moscow, 125993

zakharova-rmapo@yandex.ruhttps://orcid.org/0000-0003-3181-9601ОсмановИ. М.OsmanovI. M.

Османов Исмаил Магомедович - д.м.н., профессор, главный врач, Детская ГКБ им. З.А. Башляевой; профессор кафедры детских болезней №2 педиатрического факультета, РНИМУ им. Н.И. Пирогова.

125373, Москва, ул. Героев Панфиловцев, д. 28; 125412, Москва, ул. Талдомская, д. 2

Ismail M. Osmanov - Dr. Sci. (Med.), Professor, Chief Physician, Bashlyaeva Children’s City Clinical Hospital; Professor of the Department of Paediatrics No. 2, Faculty of Paediatrics, Pirogov Russian National Research Medical University.

28, Geroyev Panfilovtsev St., Moscow, 125373; 2, Taldomskaya St., Moscow, 125412

osmanovim@zdrav.mos.ruhttps://orcid.org/0000-0003-2181-8138ПупыкинаВ. В.PupykinaV. V.

Пупыкина Виктория Викторовна - ассистент кафедры педиатрии имени академика Г.Н. Сперанского.

125993, Москва, ул. Баррикадная, д. 2/1, стр. 1

Viktoria V. Pupykina - Assistant Professor of the Department of Pediatrics named after G.N. Speransky, Russian Medical Academy of Continuous Professional Education.

2/1, Bldg. 1, Barrikadnaya St., Moscow, 125993

vika-pupykina@mail.ruhttps://orcid.org/0009-0007-3465-7683ГагинЕ. А.GaginE. A.

Гагин Евгений Анатольевич - заведующий Детским кардиологическим центром.

125373, Москва, ул. Героев Панфиловцев, д. 28

Evgeniy A. Gagin - Head of the Pediatric Cardiology Center, Bashlyaeva Children’s City Clinical Hospital.

28, Geroyev Panfilovtsev St., Moscow, 125373

Cardio@egagin.ruДмитриевИ. И.DmitrievI. I.

Дмитриев Игорь Игоревич - врач – детский кардиолог Детского кардиологического центра.

125373, Москва, ул. Героев Панфиловцев, д. 28

Igor I. Dmitriev - Pediatric Cardiologist at the Pediatric Cardiology Center, Bashlyaeva Children’s City Clinical Hospital.

28, Geroyev Panfilovtsev St., Moscow, 125373

Igor_set@mail.ruhttps://orcid.org/0000-0001-5544-204XБорзаковаС. Н.BorzakovaS. N.

Борзакова Светлана Николаевна - к.м.н., доцент кафедры педиатрии имени академика Г.Н. Сперанского, РМАНПО; врач-гастроэнтеролог, Детская ГКБ им. З.А. Башляевой; заведующая организационно-методическим отделом по педиатрии, НИИОЗММ.

125993, Москва, ул. Баррикадная, д. 2/1, стр. 1; 125373, Москва, ул. Героев Панфиловцев, д. 2; 115088, Москва, ул. Шарикоподшипниковская, д. 9

Svetlana N. Borzakova - Cand. Sci. (Med.), Associate Professor of the Department of Paediatrics named after Academician G.N. Speransky, Russian Medical Academy of Continuing Professional Education; Paediatric Gastroenterologist, Bashlyaeva Children’s City Clinical Hospital; Head of the Organisational-Methodological Department for Paediatrics, Research Institute of Healthcare Organization and Medical Management.

2/1, Bldg. 1, Barrikadnaya St., Moscow, 125993; 28, Geroyev Panfilovtsev St., Moscow, 125373; 9, Sharikopodshipnikovskaya St., Moscow, 115088

borzakovasn@zdrav.mos.ruhttps://orcid.org/0009-0000-0432-4617МирошинаА. В.MiroshinaA. V.

Мирошина Александра Владимировна - руководитель организационно-аналитического отдела.

125373, Москва, ул. Героев Панфиловцев, д. 2

Aleksandra V. Miroshina - Head of the Organizational and Analytical Department, Bashlyaeva Children’s City Clinical Hospital.

28, Geroyev Panfilovtsev St., Moscow, 125373

MiroshinaAV@zdrav.mos.ruhttps://orcid.org/0000-0002-1518-6552ЕжовМ. В.EzhovM. V.

Ежов Марат Владиславович - д.м.н., профессор, главный научный сотрудник лаборатории нарушений липидного обмена Научно-исследовательского института клинической кардиологии имени А.Л. Мясникова.

121552, Москва, ул. Академика Чазова, д. 15а

Marat V. Ezhov - Dr. Sci. (Med.), Professor, Chief Researcher of the Laboratory of Lipid Metabolism Disorders, Myasnikov Research Institute of Clinical Cardiology, National Medical Research Centre of Cardiology named after Academician E.I. Chazov.

15a, Academician Chazov St., Moscow, 121552

marat_ezhov@mail.ruРоссийская медицинская академия непрерывного профессионального образования; Детская городская клиническая больница имени З.А. Башляевой; Научно-исследовательский институт организации здравоохранения и медицинского менеджментаРоссияRussian Medical Academy of Continuous Professional Education; Bashlyaeva Children’s City Clinical Hospital; Research Institute of Healthcare Organization and Medical ManagementRussian FederationРоссийская медицинская академия непрерывного профессионального образованияРоссияRussian Medical Academy of Continuous Professional EducationRussian FederationДетская городская клиническая больница имени З.А. Башляевой; Российский национальный исследовательский медицинский университет имени Н.И. ПироговаРоссияBashlyaeva Children’s City Clinical Hospital; Pirogov Russian National Research Medical UniversityRussian FederationДетская городская клиническая больница имени З.А. БашляевойРоссияBashlyaeva Children’s City Clinical HospitalRussian FederationНациональный медицинский исследовательский центр кардиологии имени академика Е.И. ЧазоваРоссияNational Medical Research Centre of Cardiology named after Academician E.I. ChazovRussian Federation20262403202601283293Copyright © Пшеничникова И.И., Захарова И.Н., Османов И.М., Пупыкина В.В., Гагин Е.А., Дмитриев И.И., Борзакова С.Н., Мирошина А.В., Ежов М.В., 20262026Пшеничникова И.И., Захарова И.Н., Османов И.М., Пупыкина В.В., Гагин Е.А., Дмитриев И.И., Борзакова С.Н., Мирошина А.В., Ежов М.В.Pshenichnikova I.I., Zakharova I.N., Osmanov I.M., Pupykina V.V., Gagin E.A., Dmitriev I.I., Borzakova S.N., Miroshina A.V., Ezhov M.V.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.med-sovet.pro/jour/article/view/9907Введение

Введение. Гетерозиготная семейная гиперхолестеринемия (ГеСГХ) является наиболее распространенным наследственным нарушением липидного обмена и характеризуется высоким риском ранних сердечно-сосудистых осложнений.

Цель

Цель. Создать и валидировать многофакторный прогностический алгоритм, прогнозирующий наличие субклинического атеросклероза (определяемого как толщина комплекса «интима – медиа» (тКИМ) > 95-го перцентиля для возраста/пола или наличие хотя бы одной атеросклеротической бляшки сонных артерий) у детей с ГеСГХ, с последующим применением данного алгоритма (в форме калькулятора риска) для индивидуализации тактики гиполипидемической терапии.

Материалы и методы

Материалы и методы. Проведено ретроспективное одноцентровое поперечное исследование на базе Детского кардиологического центра ГБУЗ «ДГКБ им. З.А. Башляевой ДЗМ» (Москва). Исследование включало 374 пациента в возрасте 6–18 лет. Диагноз СХГ: определенная или вероятная гетерозиготная форма согласно критериям Саймона – Брума. Измерение тКИМ общей сонной артерии и выявление атеросклеротических бляшек признаны валидированными суррогатными маркерами повышенного сердечно-сосудистого риска. В качестве исхода использовали ультразвуковые признаки субклинического атеросклероза (утолщение КИМ > 95-го перцентиля и/или наличие атеросклеротических бляшек).

Результаты

Результаты. Полученная модель продемонстрировала хорошую дискриминационную способность (средняя AUC – 0,791; после бутстрэп-коррекции – 0,776) и удовлетворительную калибровку. Наибольший вклад в риск внесли наличие патогенных вариантов генов LDLR/APOB, гликированный гемоглобин > 5,7% и курение или вейпинг. Предложен практический алгоритм стратификации пациентов по четырем уровням риска, позволяющий персонализировать тактику гиполипидемической терапии.

Заключение

Заключение. Несмотря на необходимость внешней валидации и дальнейших проспективных исследований, ИПАД-1.0 является первым комплексным валидированным инструментом оценки сосудистого риска в педиатрической практике при ГеСГХ.

Introduction

Introduction. Heterozygous familial hypercholesterolemia (HeFH) is the most common inherited disorder of lipid metabolism, characterized by a high risk of early cardiovascular events.

Aim

Aim. To develop and validate a multidimensional prognostic algorithm for predicting the presence of subclinical atherosclerosis (defined as intima-media thickness (IMT) > 95th percentile for age and sex or the presence of at least one carotid atherosclerotic plaque) in children with HeFH, and thereafter use this algorithm as a risk calculator to personalize lipid-lowering therapy.

Materials and methods

Materials and methods. A retrospective, single-center, cross-sectional study was conducted at the Children's Cardiology Center of the Bashlyaeva Children’s City Clinical Hospital of Moscow Health Department (Moscow). The study included 374 patients between ages 6 and 18. Based on the Simon Broom criteria, the diagnosis of FH referred to either definite or possible heterozygous FH. Common carotid intima-media thickness (CIMT) measurement and atherosclerotic plaque detection were recognized as validated surrogate markers of increased cardiovascular risk. Ultrasound findings of subclinical atherosclerosis (IMT > 95th percentile and/or the presence of atherosclerotic plaques) were used as the study outcome.

Results

Results. The resulting model demonstrated good discriminatory performance (mean AUC – 0.791; after bootstrap correction – 0.776) and acceptable calibration. Pathogenic variants found in the LDLR/APO genes, glycated hemoglobin > 5.7%, and smoking or vaping made the greatest contribution to the risk. A practical algorithm for stratifying patients into 4 categories of risk, allowing for personalized approach to lipid-lowering therapy was suggested.

Conclusion

Conclusion. Despite the need for external validation and further prospective studies, IPAD-1.0 is the first comprehensive validated tool to assess a vascular risk in pediatric HeFH.

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