ksmaКубанский научный медицинский вестникKuban Scientific Medical Bulletin1608-62282541-9544Kuban State Medical University10.25207/1608-6228-2019-26-1-175-186ksma-1623Research ArticleОБЗОРЫREVIEWСЕМЕЙНАЯ ГИПЕРХОЛЕСТЕРИНЕМИЯ: ПРОБЛЕМЫ ДИАГНОСТИКИ И ВОЗМОЖНОСТИ ТЕРАПИИFAMILIAL HYPERCHOLESTEROLEMIA: DIAGNOSTIC ISSUES AND THERAPEUTIC POSSIBILITIESЗафиракиВ. Л.ZafirakiVitalii K.

Зафираки Виталий Константинович

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vzaphir@mail.ruНамитоковА. М.NamitokovAlim M.КосмачеваЕ. Д.KosmachevaElena D.Федеральное государственное бюджетное образовательное учреждение высшего образования «Кубанский государственный медицинский университет» Министерства здравоохранения Российской ФедерацииРоссияKuban State Medical University, Ministry of Health of the Russian FederationRussian FederationГосударственное бюджетное учреждение здравоохранения «Научно-исследовательский институт — Краевая клиническая больница № 1 им. профессора С.В. Очаповского» Министерства здравоохранения Краснодарского краяРоссияResearch Institute — Regional Clinical Hospital No. 1 n.a. prof. S.V Ochapovsky, Ministry of Health of the Krasnodar KraiRussian Federation201913032019261175186Copyright © Зафираки В.Л., Намитоков А.М., Космачева Е.Д., 20192019Зафираки В.Л., Намитоков А.М., Космачева Е.Д.Zafiraki V.K., Namitokov A.M., Kosmacheva E.D.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://ksma.elpub.ru/jour/article/view/1623

Семейная гиперхолестеринемия (СГХС) — распространенное моногенное заболевание, которое встречается с частотой ~1:250 и характеризуется высоким содержанием в крови липопротеинов низкой плотности (ЛПНП) и ранним развитием атеросклеротических сердечно-сосудистых заболеваний (АССЗ). Несмотря на то что вопросы скрининга и диагностики СГХС хорошо разработаны, а современная гиполипидемическая терапия способна значительно улучшить прогноз, выявляемость этого заболевания остается крайне низкой. Отмечено, что представления о СГХС в последние годы претерпели существенные изменения под влиянием результатов недавно выполненных крупных эпидемиологических исследований, в том числе с верификацией диагноза СГХС при помощи генетических тестов. В статье детально обсуждаются клинические проявления, а также современные медикаментозные и эктракорпоральные методы лечения СГХС.

Заключение

Заключение. Таким образом, СГХС, которая до появления современных гиполипидемических препаратов оставалась заболеванием с плохим прогнозом из-за рано развивающихся АССЗ и связанной с ними преждевременной смерти, в настоящее время поддается успешному лечению, хотя и не устраняющему генетический дефект, но позволяющему достичь практически такой же продолжительности жизни, как в общей популяции. Однако для реализации всех возможностей современного лечения этого серьезного заболевания необходима программа скрининга таких больных, принятая на государственном уровне.

Конфликт интересов

Конфликт интересов: авторы заявили об отсутствии конфликта интересов.

Familial hypercholesterolemia (FHC) is a common monogenic disease that occurs with a frequency of ~1:250 and is characterised by a high content of low-density lipoprotein (LDL) in the blood. This disease leads to the early development of atherosclerotic cardiovascular diseases (ACVD). Although the screening and diagnostics issues concerned with FHC are well developed and the modern lipid-lowering therapy can significantly improve the prognosis, the detectability of this disease remains extremely low. In recent years, the concept of FHC has undergone significant changes under the influence of large epidemiological studies, including verification of the FHC diagnosis using genetic tests. The article is aimed at discussing the clinical manifestations of FHC, as well as modern medical and extracorporal approaches to its treatment.

Conclusion

Conclusion. Until the advent of modern lipid-lowering drugs, FHC had remained to be a disease with a poor prognosis due to early ACVD and the associated premature death. Today, the diseases is amenable to successful treatment, which, though not eliminating the genetic defect, allows almost the same life duration as in the general population to be achieved. However, all the possibilities of modern approaches to the treatment of this serious disease can be realized provided that a state-level screening program for such patients has been implemented.

Conflict of interest

Conflict of interest: the authors declare no conflict of interest.

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