medsovetМедицинский СоветMeditsinskiy sovet = Medical Council2079-701X2658-5790REMEDIUM GROUP Ltd.10.21518/ms2025-480medsovet-9600Research ArticleГАСТРОЭНТЕРОЛОГИЯGASTROENTEROLOGYГомозиготная семейная гиперхолестеринемия у ребенка: клинический эффект регулярного афереза липопротеинов в многопрофильном педиатрическом стационареHomozygous familial hypercholesterolemia in a child: A clinical effect of regular lipoprotein apheresis in a multispecialty children’s hospitalhttps://orcid.org/0000-0002-0058-3803ПшеничниковаИ. И.PshenichnikovaI. I.

Пшеничникова Ирина Игоревна, к.м.н., доцент кафедры педиатрии имени академика Г.Н. Сперанского; педиатр; специалист организационно-методического отдела по педиатрии 

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; Pediatrician; Specialist of the Organizational and Methodical Department of Paediatrics

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

28, Geroyev Panfilovtsev St., Moscow, 125373

9, Sharikopodshipnikovskaya St., Moscow, 115088

pshenichnikovaii@rmapo.ruhttps://orcid.org/0000-0001-9627-2833ТрунинаИ. И.TruninaI. I.

Трунина Инна Игоревна, д.м.н., профессор, заведующая отделением кардиологии; профессор кафедры госпитальной педиатрии №1 педиатрического факультета

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

125412, Москва, ул. Талдомская, д. 2

Inna I. Trunina, Dr. Sci. (Med.), Professor, Head of the Cardiology Department; Professor of Department of Hospital Paediatrics No 1, Faculty of Paediatrics

28, Geroyev Panfilovtsev St., Moscow, 125373

2, Taldomskaya St., Moscow, 125412

itrunina@mail.ruОкуловаО. А.OkulovaO. A.

Окулова Ольга Анатольевна, врач – детский кардиолог

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

Olga A. Okulova, Pediatric Cardiologist

28, Geroyev Panfilovtsev St., Moscow, 125373

olga_okulova@bk.ruhttps://orcid.org/0000-0001-6182-2508ТележниковаН. Д.TelezhnikovaN. D.

Тележникова Наталья Дмитриевна, врач – детский кардиолог

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

Natalia D. Telezhnikova, Head of the Department of Cardiology

28, Geroyev Panfilovtsev St., Moscow, 125373

https://orcid.org/0000-0001-6667-9472ТепаевР. Ф.TepaevR. F.

Тепаев Рустэм Фаридович, д.м.н., анестезиолог, реаниматолог

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

Rustem F. Tepaev, Dr. Sci. (Med.), Anesthesiologist, Resuscitator

28, Geroyev Panfilovtsev St., Moscow, 125373

https://orcid.org/0000-0003-3181-9601ОсмановИ. М.OsmanovI. M.

Османов Исмаил Магомедович, д.м.н., профессор, главный врач; профессор кафедры детских болезней №2 педиатрического факультета

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

125412, Москва, ул. Талдомская, д. 2

Ismail M. Osmanov, Dr. Sci. (Med.), Professor, Chief Physician; Professor, Department of Paediatrics No. 2, Faculty of Paediatrics

28, Geroyev Panfilovtsev St., Moscow, 125373

2, Taldomskaya St., Moscow, 125412

https://orcid.org/0000-0001-5544-204XБорзаковаС. Н.BorzakovaS. N.

Борзакова Светлана Николаевна, к.м.н., доцент кафедры педиатрии имени академика Г.Н. Сперанского; врач-гастроэнтеролог; заведующая организационно-методическим отделом по педиатрии

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

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

115088, Москва, ул. Шарикоподшипниковская, д. 9

Svetlana N. Borzakova, Cand. Sci. (Med.), Associate Professor, Department of Paediatrics named after Academician G.N. Speransky; Paediatric Gastroenterologist; Head, Organisational- Methodological Department for Paediatrics

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

28, Geroyev Panfilovtsev St., Moscow, 125373

9, Sharikopodshipnikovskaya St., Moscow, 115088

https://orcid.org/0000-0003-4200-4598ЗахароваИ. Н.ZakharovaI. N.

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

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

Irina N. Zakharova, Dr. Sci. (Med.), Professor, Head of the Department of Pediatrics named after G.N. Speransky

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

zakharova-rmapo@yandex.ruhttps://orcid.org/0000-0001-7004-0903СоколовА. А.SokolovA. А.

Соколов Алексей Альбертович, д.м.н., профессор, врач-трансфузиолог, руководитель отделения экстракорпоральной гемокоррекции и фотогемотерапии

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

Alexey A. Sokolov, Dr. Sci. (Med.), Professor, Transfusiologist, Head of Department of Extracorporeal Haemocorrection  and Photochemotherapy

15a, Academician Chazov St., Moscow, 121552

https://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, Laboratory of Lipid Metabolism Disorders, Myasnikov Research Institute of Clinical Cardiology

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 Moscow Children’s City Clinical Hospital; Research Institute for Healthcare Organisation and Medical Management, Moscow Healthcare DepartmentRussian FederationДетская городская клиническая больница имени З.А. Башляевой; Российский национальный исследовательский медицинский университет имени Н.И. ПироговаРоссияBashlyaeva Moscow Children’s City Clinical Hospital; Pirogov Russian National Research Medical UniversityRussian FederationДетская городская клиническая больница имени З.А. БашляевойРоссияBashlyaeva Moscow Children’s City Clinical HospitalRussian FederationРоссийская медицинская академия непрерывного профессионального образованияРоссияRussian Medical Academy of Continuous Professional EducationRussian FederationНациональный медицинский исследовательский центр кардиологии имени академика Е.И. ЧазоваРоссияNational Medical Research Centre of Cardiology named after Academician E.I. ChazovRussian Federation202501122025019145–153Copyright © Пшеничникова И.И., Трунина И.И., Окулова О.А., Тележникова Н.Д., Тепаев Р.Ф., Османов И.М., Борзакова С.Н., Захарова И.Н., Соколов А.А., Ежов М.В., 20252025Пшеничникова И.И., Трунина И.И., Окулова О.А., Тележникова Н.Д., Тепаев Р.Ф., Османов И.М., Борзакова С.Н., Захарова И.Н., Соколов А.А., Ежов М.В.Pshenichnikova I.I., Trunina I.I., Okulova O.A., Telezhnikova N.D., Tepaev R.F., Osmanov I.M., Borzakova S.N., Zakharova I.N., Sokolov A.А., Ezhov M.V.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.med-sovet.pro/jour/article/view/9600

Гомозиготная семейная гиперхолестеринемия (гоСГХС) – редкое наследственное заболевание с экстремально высоким уровнем общего холестерина (ОХС) и холестерина липопротеинов низкой плотности (ХС ЛНП) и ранним развитием атеросклероза сосудов. Представляем клиническое наблюдение девочки с ранним множественным ксантоматозом (дебют клинических проявлений в 1,5 года) и генетически подтвержденным вариантом в гене LDLR c.1729T > C (p.W577R) в гомозиготном состоянии. Диагноз установлен в возрасте 3 лет (ОХС до 25 ммоль/л; в динамике сохранялся ОХС 23,5 ммоль/л, ХС ЛНП 22,1 ммоль/л), однако целенаправленная гиполипидемическая диета не была системно организована, лекарственная терапия не проводилась, что отражало недостаточную осведомленность врачей и отсутствие маршрутизации. С 6,5 лет пациентка наблюдается в ГБУЗ «ДГКБ им. З.А. Башляевой ДЗМ» (Центр компетенций по диагностике и лечению нарушений липидного обмена у детей и подростков); попытки подбора комбинированной гиполипидемической фармакотерапии (розувастатин, эзетимиб, эволокумаб) клинически значимого эффекта не дали. На фоне рефрактерной гиперлипидемии с 22.12.2022 г. начат регулярный терапевтический аферез (1–3 процедуры в месяц; 62 сеанса к июлю 2025 г.), обеспечивавший острое снижение ОХС и ХС ЛНП на 40–70% за процедуру. Отмечены выраженный регресс ксантоматоза, уменьшение толщины комплекса «интима – медиа» общих сонных артерий, стабилизация состояния коронарных артерий, целевые показатели артериального давления. Случай подчеркивает критическую важность ранней маршрутизации, семейного скрининга и комбинации высокоинтенсивной фармакотерапии с регулярным аферезом липопротеинов для снижения запасов холестерина в организме в условиях нарушенных механизмов его выведения, стабилизации сосудистых изменений у детей с гоСГХС.

Homozygous familial hypercholesterolemia (HoFH) is a rare inherited condition associated with extremely elevated levels of total cholesterol (TC) and low-density lipoprotein cholesterol (LDL-C), leading to early vascular atherosclerosis. Here we report a clinical observation of a girl with early-onset multiple xanthomatosis (the age of clinical symptom onset was 1.5 years) and a genetically confirmed homozygous variant, c.1729T>C, in the LDLR gene (p.W577R). The diagnosis was established at the age of 3 (TC up to 25 mmol/L; TC level time profile remained at 23.5 mmol/L, LDL-C 22.1 mmol/L). However, a targeted lipidlowering diet was not arranged in a consistent manner, and the drug therapy was not conducted, which reflected physicians' poor awareness and lack of routing of patients. The patient has been followed at the Z. A. Bashlyaeva Children's City Clinical Hospital of the Moscow Health Department (Competence Center for Screening and Treatment of Lipid Disorders in Children and Adolescents) since the age of 6.5 years. All attempts to choose any beneficial combination lipid-lowering pharmacotherapy (rosuvastatin, ezetimibe, evolocumab) have not yielded a clinically significant effect. Due to refractory hyperlipidemia, regular therapeutic apheresis (1–3 procedures per month; 62 sessions by July 2025) was initiated on December 22, 2022, which resulted in acute decreases in total cholesterol and LDL-cholesterol by 40–70% after each procedure. Significant regression of xanthomatosis, a decrease in the intima-media thickness of the common carotid arteries, coronary artery stabilization, and achievement of target blood pressure values were observed. This case stresses the utmost importance of early routing of patients, family screening, and combined treatment with high-intensity pharmacotherapy and regular lipoprotein apheresis to reduce cholesterol deposits on any part of the body in patients with impaired mechanisms of clearance of cholesterol and to stabilize vascular changes in children with HoFH.

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