Гомозиготная семейная гиперхолестеринемия: современные аспекты патогенеза, диагностики и терапии

Гомозиготная семейная гиперхолестеринемия: современные аспекты патогенеза, диагностики и терапии

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Гомозиготная семейная гиперхолестеринемия: современные аспекты патогенеза, диагностики и терапии

Журнал "Медицинский совет. Педиатрия" №17, 2018

DOI: https://doi.org/10.21518/2079-701X-2018-17-253-259

В.К. Зафираки1, Е.Д. Космачева2, И.Н. Захарова5, В.А. Корнева4, А.В. Сусеков3,5

1 ФГБОУ ВО «Кубанский государственный медицинский университет» Минздрава России 2 ГБУЗ «Научно-исследовательский институт – Краевая клиническая больница №1 им. профессора С.В. Очаповского» Минздрава Краснодарского края 3 Центральная клиническая больница Российской академии наук, Москва 4 ФГБОУ ВО «Петрозаводский государственный университет» Минздрава России 5 ФГБОУ ДПО «Российская медицинская академия непрерывного профессионального образования» Минздрава России, Москва

Гомозиготная семейная гиперхолестеринемия − редкое генетическое заболевание, которое характеризуется исключительно высоким уровнем липопротеинов низкой плотности в крови, кожным и сухожильным ксантоматозом, быстро прогрессирующим атеросклерозом, который часто манифестирует уже на втором десятилетии жизни и без лечения приводит к ранней смерти от заболеваний, связанных с атеросклерозом. Современная комбинированная липидснижающая терапия позволяет значительно увеличить продолжительность жизни этих больных.

V.K. Zafiraki1, E.D. Kosmacheva2, I.N. Zakharova5, V.A. Korneva4, A.V. Susekov3,5 

1 Federal State Budgetary Educational Institution of Higher Education Kuban State Medical University of the Ministry of Healthcare of the Russian Federation, Krasnodar, Russia, 2 Scientific Research Institution – S.V. Ochapovsky Regional Clinical Hospital № 1, Krasnodar, Russia 3 Central Clinical hospital Academy of Medical Sciences, Moscow, Russia 4 Federal State Budgetary Educational Institution of Higher Education «Petrozavodsk State University», Petrazavodsk, Russia 5 Academy for Postgraduate Continuous Medical education, Moscow, Russia

Homozygous familial hypercholesterolemia: modern aspects of pathogenesis, diagnostics and treatment 

Homozygous familial hypercholesterolemia is a rare genetic disease featuring extremely high of low-density lipoprotein blood level, cutaneous and tendon xanthomas and accelerated atherosclerosis with often manifestions in the first 2 decades of life, resulting to premature death due to atherosclerosis-related diseases. Modern combined lipid-lowering therapy is able to increase life duration considerably for these patients.

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