Can I Check What Familial Hypercholesterolemia Variant I Have
Журнал "Медицинский совет. Педиатрия" №17, 2018
DOI: https://doi.org/10.21518/2079-701X-2018-17-253-259
В.К. Зафираки i, Е.Д. Космачева 2, И.Н. Захарова 5, В.А. Корнева 4, А.В. Сусеков 3,5
1 ФГБОУ ВО «Кубанский государственный медицинский университет» Минздрава России 2 ГБУЗ «Научно-исследовательский институт – Краевая клиническая больница №i им. профессора С.В. Очаповского» Минздрава Краснодарского края 3 Центральная клиническая больница Российской академии наук, Москва 4 ФГБОУ ВО «Петрозаводский государственный университет» Минздрава России v 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.Grand. Zafiraki one, East.D. Kosmacheva 2, I.Northward. Zakharova 5, V.A. Korneva 4, A.5. Susekov 3,5
1 Federal Land Budgetary Educational Institution of Higher Didactics Kuban State Medical University of the Ministry building of Healthcare of the Russian Federation, Krasnodar, Russia, 2 Scientific Inquiry Institution – Due south.V. Ochapovsky Regional Clinical Infirmary № 1, Krasnodar, Russia three Key Clinical hospital University of Medical Sciences, Moscow, Russian federation 4 Federal State Budgetary Educational Institution of Higher Teaching «Petrozavodsk State University», Petrazavodsk, Russian federation 5 Academy for Postgraduate Continuous Medical education, Moscow, Russia
Homozygous familial hypercholesterolemia: modern aspects of pathogenesis, diagnostics and handling
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 oft manifestions in the kickoff ii 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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Source: https://remedium.ru/doctor/pediatrics/gomozigotnaya-semeynaya-giperkholesterinemiya-sovremennye-aspekty-patogeneza-diagnostiki/
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