cardiovascularКардиоваскулярная терапия и профилактикаCardiovascular Therapy and Prevention1728-88002619-0125«SILICEA-POLIGRAF» LLC10.15829/1728-8800-2021-2893cardiovascular-2893Research ArticleОБЗОРЫ ЛИТЕРАТУРЫREVIEW ARTICLESСемейная дисбеталипопротеидемия: высокоатерогенное и недостаточно диагностируемое заболеваниеFamilial dysbetalipoproteinemia: highly atherogenic and underdiagnosed disorderhttps://orcid.org/0000-0002-3019-3961БлохинаА. В.BlokhinaA. V.

Аспирант, лаборант-исследователь лаборатории клиномики.

Москва, Тел.: +7 (916) 170-87-25, SPIN-код:1103-6168

Clinical resident, laboratory researcher, laboratory of Clinomics. SPIN:1103-6168. 

Moscow, +7 (916) 170-87-25

blokhina0310@gmail.comhttps://orcid.org/0000-0001-7989-0760ЕршоваА. И.ErshovaA. I.

Кандидат медицинских наук, руководитель лаборатории клиномики.

Москва, SPIN-код: 5292-5612

MD, PhD, Head of the Laboratory of Clinomics. SPIN: 5292-5612.

Moscow

alersh@mail.ruhttps://orcid.org/0000-0001-5989-6233МешковА. Н.MeshkovA. N.

Кандидат медицинских наук, руководитель лаборатории молекулярной генетики.

Москва, SPIN-код: 6340-5187

MD, PhD, Head of the Laboratory of Molecular genetics. SPIN: 6340-5187. 

Moscow

meshkov@lipidclinic.ruhttps://orcid.org/0000-0002-4453-8430ДрапкинаО. М.DrapkinaO. M.

Доктор медицинских наук, профессор, член-корр. РАН, директор.

Москва, SPIN-код: 4456-1297

MD, Professor, Director of the National Medical Research Center for Therapy and Preventive Medicine. SPIN: 4456-1297. 

Moscow

drapkina@bk.ruФГБУ Национальный медицинский исследовательский центр терапии и профилактической медицины Минздрава РоссииNational Medical Research Center for Therapy and Preventive Medicine20211510202120628932893Copyright © Блохина А.В., Ершова А.И., Мешков А.Н., Драпкина О.М., 20212021Блохина А.В., Ершова А.И., Мешков А.Н., Драпкина О.М.Blokhina A.V., Ershova A.I., Meshkov A.N., Drapkina O.M.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://cardiovascular.elpub.ru/jour/article/view/2893

Семейная дисбеталипопротеидемия (СДЛП) — наследственное, вы-сокоатерогенное заболевание, пенетрантность которого зависит от образа жизни пациента и сопутствующих болезней. Несмотря на то, что описано почти полвека назад, до сих пор недостаточно изучено и крайне редко диагностируется. В реальной клинической практике у врачей нет четкого представления о клиническом течении СДЛП и её генетических основах. Целью работы было представить наиболее полный, но в то же время критический обзор с современным взглядом на проблему СДЛП. Был проведен анализ отечественных и зарубежных публикаций с поиском литературных источников в электронных базах данных: PubMed, eLIBRARY, Google Scholar. В результате рассмотрены фенотипические особенности и генетическая вариабельность заболевания, обсуждены основные вопросы диагностики и лечения пациентов с СДЛП. Представленные в обзоре данные помогут клиницисту своевременно заподозрить СДЛП, провести полный спектр диагностики и назначить патогенетически обоснованную гиполипидемическую терапию.

Familial dysbetalipoproteinemia (FD) is a genetic, highly atherogenic disorder. The penetrance of FD depends on the patient’s lifestyle and concomitant diseases. Despite the fact that FD was described almost half a century ago, it is still insufficiently studied and is extremely rarely diagnosed. In actual clinical practice, physicians do not have clear understanding of clinical course and genetic basis of FD. The aim was to present the most complete, but at the same time a critical review with a modern view on FD. We analyzed Russian and foreign publications from following electronic databases: PubMed, eLIBRARY, Google Scholar. As a result, the phenotypic features and genetic variability of the disease were considered and the main issues of diagnosis and treatment of patients with FD were discussed. The data presented will help the clinician to timely suspect the FD, conduct a full range of investigations and prescribe evidence-based lipid-lowering therapy.

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