medsovetМедицинский СоветMeditsinskiy sovet = Medical Council2079-701X2658-5790REMEDIUM GROUP Ltd.10.21518/2079-701X-2018-17-253-259medsovet-2728Research ArticleТРУДНЫЙ ДИАГНОЗDIFFICULT DIAGNOSISГомозиготная семейная гиперхолестеринемия: современные аспекты патогенеза, диагностики и терапииHomozygous familial hypercholesterolemia: modern aspects of pathogenesis, diagnostics and treatmentЗафиракиВ. К.ZafirakiV. К.

Зафираки Виталий Константинович – кандидат медицинских наук, доцент кафедры терапии №1 ФПК и ППС

Краснодар

КосмачеваЕ. Д.KosmachevaЕ. D.

Космачева Елена Дмитриевна – доктор медицинских наук, профессор, заместитель главного врача по медицинской части ГБУЗ «Научно-исследовательский институт – Краевая клиническая больница №1 имени профессора С.В. Очаповского» МЗ Краснодарского края; главный кардиолог ЮФО и Краснодарского края, заведующая кафедрой терапии №1 ФПК и ППС ФГБОУ ВО КубГМУ Минздрава России

Краснодар

ЗахароваИ. Н.ZakharovaI. N.

Захарова Ирина Николаевна – доктор медицинских наук, профессор, заведующая кафедрой педиатрии с курсом поликлинической педиатрии имени академика Г.Н. Сперанского

Москва

КорневаВ. А.KornevaV. A.

Корнева Виктория Алексеевна – кандидат медицинских наук, доцент кафедры факультетской терапии, фтизиатрии, инфекционных болезней и эпидемиологии

Петрозаводск

СусековА. В.SusekovA. V.

Сусеков Андрей Владимирович – доктор медицинских наук, профессор кафедры клинической фармакологии, федеральное государственное бюджетное образовательное учреждение дополнительного профессионального образования «Российская медицинская академия непрерывного профессионального образования» Минздрава России

Москва

ФГБОУ ВО «Кубанский государственный медицинский университет» Минздрава РоссииРоссияFederal State Budgetary Educational Institution of Higher Education Kuban State Medical University of the Ministry of Healthcare of the Russian FederationRussian FederationГБУЗ «Научно-исследовательский институт – Краевая клиническая больница №1 им. профессора С.В. Очаповского» Минздрава Краснодарского краяРоссияScientific Research Institution – S.V. Ochapovsky Regional Clinical Hospital № 1Russian FederationФГБОУ ДПО «Российская медицинская академия непрерывного профессионального образования» Минздрава РоссииРоссияAcademy for Postgraduate Continuous Medical educationRussian FederationФГБОУ ВО «Петрозаводский государственный университет» Минздрава РоссииРоссияFederal State Budgetary Educational Institution of Higher Education «Petrozavodsk State University»Russian FederationЦентральная клиническая больница Российской академии наук; ФГБОУ ДПО «Российская медицинская академия непрерывного профессионального образования» Минздрава РоссииРоссияCentral Clinical hospital Academy of Medical Sciences; Academy for Postgraduate Continuous Medical educationRussian Federation201822102018017253260Copyright © Зафираки В.К., Космачева Е.Д., Захарова И.Н., Корнева В.А., Сусеков А.В., 20182018Зафираки В.К., Космачева Е.Д., Захарова И.Н., Корнева В.А., Сусеков А.В.Zafiraki V.К., Kosmacheva Е.D., Zakharova I.N., Korneva V.A., Susekov A.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/2728

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.

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