perinatologyРоссийский вестник перинатологии и педиатрииRossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)1027-40652500-2228Ltd. “The National Academy of Pediatric Science and Innovation”10.21508/1027-4065-2021-66-4-118-128perinatology-1453Research ArticleВ ПОМОЩЬ ПРАКТИЧЕСКОМУ ВРАЧУFOR THE PRACTITIONERСемейная гомозиготная гиперхолестеринемии у детей: стратегия ранней диагностики и леченияFamilial homozygous hypercholesterolemia in children: early diagnosis and treatmenthttps://orcid.org/0000-0002-5273-6859ЛеонтьеваИ. В.LeontyevaI. V.

Леонтьева Ирина Викторовна – д.м.н., проф., глав. науч. сотр. отдела детской кардиологии и аритмологии

125412 Москва, ул. Талдомская, д. 2

Moscow

ОСП «Научно-исследовательский клинический институт педиатрии им. академика Ю. Е. Вельтищева», ФГАОУ ВО РНИМУ им. Н. И. Пирогова Минздрава РоссииРоссияVeltischev Research and Clinical Institute for Pediatrics at the Pirogov Russian National Research Medical UniversityRussian Federation202128092021664118128Copyright © Ltd. “The National Academy of Pediatric Science and Innovation”, 20212021Ltd. “The National Academy of Pediatric Science and Innovation”Ltd. “The National Academy of Pediatric Science and Innovation”https://www.ped-perinatology.ru/jour/about/submissions#copyrightNoticehttps://www.ped-perinatology.ru/jour/article/view/1453

Семейная гомозиготная гиперхолестеринемия – редкое угрожающее жизни заболевание, распространенность которого по последним данным составляет 1:160 000–1:320 000. Основным проявлением заболевания служит экстремально высокий уровень холестерина липопротеинов низкой плотности(более13 ммоль/л), что вызывает раннее атеросклеротическое поражение сосудов, в том числе коронарных, начиная с первого десятилетия жизни, и может приводить к развитию инфаркта миокарда в детском возрасте. Семейная гомозиготная гиперхолестеринемия остается малоизвестным заболеванием в клинической практике педиатра; это ведет к запоздалой диагностике и позднему началу терапии. Наиболее частой причиной заболевания служат мутации в гене LDLR (90%), реже в генахAPOB (5–10%), PCSK9 (1%), LDLRAP1 (1%). Изложены критерии диагностики семейной гомозиготной гиперхолестеринемии у детей. Подробно освященыклинические проявления на коже, на уровне сердечно-сосудистой системы, глаз. Представлены стратегия ведения и возможности лечения пациентов. Изложены показания к назначению и эффективность статинов, эзетрола, моноклональных антител к PCSK9, афереза для лечения заболевания. Обсуждаются перспективы дальнейшей терапии.

Familial homozygous hypercholesterolemia is a rare life-threatening disease, the prevalence is 1: 160,000-1: 320,000. The main manifestation of the disease is an extremely high level of low-density lipoprotein cholesterol (more than 13 mmol / l), which causes early atherosclerotic vascular lesions, including coronary arteries, starting from the first decade of life, and can lead to myocardial infarction in childhood. Familial homozygous hypercholesterolemia remains a little-known disease in the clinical practice of the pediatrician; it leads to delayed diagnosis and late initiation of therapy. The most common cause of the disease is mutations in the LDLR (90%) gene, less often in the APOB (5–10%), PCSK9 (1%), LDLRAP1 (1%) genes. The article presents the criteria for the diagnosis of familial homozygous hypercholesterolemia in children. The authors discuss clinical manifestations on the skin and at the level of the cardiovascular system, eyes. They present the strategy of management and the possibilities of treating patients. The paper presents the indications for the appointment and the effectiveness of statins, ezetrol, monoclonal antibodies to PCSK9, apheresis for the treatment of the disease. It discusses prospects for further therapy.

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