diaendoСахарный диабетDiabetes mellitus2072-03512072-0378Endocrinology research centre10.14341/DM13314diaendo-13314Research ArticleОБЗОРЫREVIEWSНаследственные липодистрофии: как не пропустить диагноз?Hereditary lipodystrophies: how not to miss the diagnosis?https://orcid.org/0009-0001-6204-4231ФролковаН. В.FrolkovaN. V.

Фролкова Надежда Викторовна, аспирант.

117036, Москва, ул. Дм. Ульянова, д. 11

Nadezhda V. Frolkova - MD, postgraduate student.

11 Dm. Ulyanova street, 117036 Moscow

nadya.frolkova@mail.ruhttps://orcid.org/0000-0001-9896-4681КокшароваЕ. О.KoksharovaE. O.

Кокшарова Екатерина Олеговна - н.с.

Москва

Ekaterina O. Koksharova - MD, research associate.

Moscow

katekoksharova@gmail.comhttps://orcid.org/0000-0002-5371-8708МишинаЕ. Е.MishinaE. E.

Мишина Екатерина Евгеньевна - к.м.н., н.с.

Москва

Ekaterina E. Mishina - MD, PhD, research associate.

Moscow

eka-mi@rambler.ruhttps://orcid.org/0000-0002-5057-127XШестаковаМ. В.ShestakovaM. V.

Шестакова Марина Владимировна - д.м.н., профессор, академик РАН.

Москва

Marina V. Shestakova - MD, PhD, Professor, Academician of the RAS; Scopus Author ID: 7004195530; eLibrary SPIN: 7584-7015.

Moscow

shestakova.mv@gmail.comГНЦ РФ ФГБУ «Национальный медицинский исследовательский центр эндокринологии им. академика И.И. Дедова»РоссияEndocrinology Research CentreRussian Federation202509102025284413423Copyright © Фролкова Н.В., Кокшарова Е.О., Мишина Е.Е., Шестакова М.В., 20252025Фролкова Н.В., Кокшарова Е.О., Мишина Е.Е., Шестакова М.В.Frolkova N.V., Koksharova E.O., Mishina E.E., Shestakova M.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.dia-endojournals.ru/jour/article/view/13314

Недостаточная осведомленность врачебного сообщества о наследственных липодистрофиях затрудняет выявляемость данной патологии. Несмотря на прогресс в понимании молекулярно-генетической основы различных синдромов липодистрофии, многие пациенты по-прежнему ускользают от внимания врачей и узнают о своем заболевании уже на поздних стадиях. Американская ассоциация клинической эндокринологии (American Association of Clinical Endocrinology, AACE) создала экспертную рабочую группу, в которую вошли практикующие врачи и лидеры в области лечения и исследования синдромов липодистрофии, для разработки клинических рекомендаций.

Синдромы липодистрофии представляют собой гетерогенную группу чрезвычайно редких заболеваний, общим для которых является дефицит жировой ткани при отсутствии алиментарной депривации или катаболического состояния. Наследственные липодистрофии связанны с потенциально серьезными метаболическими осложнениями, включающими сахарный диабет, гипертриглицеридемию, стеатоз печени, синдром поликистозных яичников и черный акантоз. Синдромы липодистрофии неоднородны и диагностируются на основании совокупности фенотипических проявлений, данных клинического обследования и дополняются результатами генетического тестирования. Пациентам с установленным диагнозом необходимо проводить ежегодный скрининиг на наличие ассоциированных с данными синдромами заболеваний с целью более раннего их выявления. По данным литературы, распространенность синдромов наследственных липодистрофий оценивается как 1 случай на 1 млн населения.

Ввиду их редкой встречаемости большинство клиницистов не знакомы с данным диагнозом и принципами его лечения. В связи с чем повышение осведомленности врачей различных специальностей о такой орфанной патологии имеет крайне важное значение для более ранней диагностики, что определило цели данной публикации.

The insufficient awareness of the medical community about hereditary lipodystrophies makes it difficult to detect this pathology. Despite progress in understanding the molecular-genetic basis of various lipodystrophy syndromes, many patients still elude the attention of doctors and only learn about their condition at later stages. The American Association of Clinical Endocrinology (AACE) has established an expert working group that includes practicing physicians and leaders in the treatment and research of lipodystrophy syndromes to develop clinical guidelines.

Lipodystrophy syndromes represent a heterogeneous group of extremely rare diseases, all characterized by a deficiency of adipose tissue in the absence of dietary deprivation or a catabolic state. Inherited lipodystrophies are associated with potentially serious metabolic complications, including diabetes, hypertriglyceridemia, hepatic steatosis, polycystic ovary syndrome, and acanthosis nigricans. Lipodystrophy syndromes are heterogeneous and diagnosed based on a combination of phenotypic manifestations, clinical examination data, and supplemented by the results of genetic testing. Patients with a confirmed diagnosis should undergo annual screening for diseases associated with these syndromes in order to detect them earlier. According to the literature, the prevalence of inherited lipodystrophy syndromes is estimated to be 1 case per 1 million people.

Due to their rare occurrence, most clinicians are unfamiliar with this diagnosis and its treatment principles. Therefore, raising awareness among physicians from various specialties about this orphan pathology is crucial for earlier diagnosis, which is the main objective of this publication.

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