pulmoПульмонологияPULMONOLOGIYA0869-01892541-9617Scientific and Practical Journal “PULMONOLOGIYA” LLC10.18093/0869-0189-2023-33-2-216-224pulmo-4255Research ArticleОБЗОРЫREVIEWБолезнь Рандю-Ослера-Вебера (наследственная геморрагическая телеангиэктазия) с поражением органов дыханияRandu - Osler - Weber disease (or hereditary hemorrhagic teleangectasia) with respiratory involvementhttps://orcid.org/0000-0002-0740-1718МизерницкийЮ. Л.MizernitskiyYu. L.

Мизерницкий Юрий Леонидович - доктор медицинских наук, профессор, заведующий отделом хронических воспалительных и аллергических болезней легких.

125412, Москва, ул. Талдомская, 2; тел: (499) 487-90-20

Yury L. Mizernitskiy - Doctor of Medicine, Professor, Head of the Department of Chronic Inflammatory and Allergic Lung Diseases.

Ul. Taldomskaya 2, Moscow, 125412; tel.: (499) 487-90-20

yulmiz@mail.ruhttps://orcid.org/0000-0002-2324-2454ШатохаП. А.ShatokhaP. A.

Шатоха Полина Александровна - научный сотрудник отдела хронических воспалительных и аллергических болезней легких.

125412, Москва, ул. Талдомская, 2; тел.: (499) 487-90-20

Polina A. Shatokha - Researcher, Department of Chronic Inflammatory and Allergic Lung Diseases.

Ul. Taldomskaya 2, Moscow, 125412; tel.: (499) 487-90-20

bakpolinka@gmail.comhttps://orcid.org/0000-0002-2324-2454СоколоваЛ. В.SokolovaL. V.

Соколова Людмила Вильевна - кандидат медицинских наук, заведующая клиническим отделением пульмонологии.

125412, Москва, ул. Талдомская, 2; тел.: (499) 487-90-20

Lyudmila V. Sokolova - Candidate of Medicine, Head of the Pulmonology Clinical Department.

Ul. Taldomskaya 2, Moscow, 125412; tel.: (499) 487-90-20

lsokolova@pedkline.ruОбособленное структурное подразделение «Научно-исследовательский клинический институт педиатрии и детской хирургии имени академика Ю.Е. Вельтищева» Федерального государственного автономного образовательного учреждения высшего образования «Российский национальный исследовательский медицинский университет имени Н.И. Пирогова» Министерства здравоохранения Российской ФедерацииРоссияVeltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery of the Pirogov Russian National Research Medical University (Pirogov Medical University), Healthcare Ministry of RussiaRussian Federation202313042023332216224Copyright © Мизерницкий Ю.Л., Шатоха П.А., Соколова Л.В., 20232023Мизерницкий Ю.Л., Шатоха П.А., Соколова Л.В.Mizernitskiy Y.L., Shatokha P.A., Sokolova L.V.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://journal.pulmonology.ru/pulm/article/view/4255

Наследственная геморрагическая телеангиэктазия (НГТ) — редкое заболевание, наследуемое по аутосомно-доминантному типу, характеризуемое различными сосудистыми дефектами, включая носовые кровотечения, расширение кровеносных сосудов (телеангиэктазии) и артериовенозные мальформации (АВМ) в легких и других внутренних органах. Легочные АВМ наблюдаются у 15—50 % больных НГТ. Заболевание манифестирует в детском возрасте и нарастает при тяжелых клинических проявлениях в течение всей жизни больного. Эпонимичное название болезни Рандю—Ослера—Вебера происходит от фамилий врачей, впервые ее описавших в середине XIX века. Несмотря на определенные успехи в изучении этиологии и патогенеза этого заболевания, тактика лечения до сих пор остается недостаточно определенной.

Целью обзора является систематизация сведений об этиологии, диагностике и лечении НГТ. В статье представлены современное состояние проблемы, основные диагностические исследования и принципы медикаментозного и хирургического лечения.

Заключение. При полиорганном поражении при НГТ требуется междисциплинарный подход к ведению таких пациентов как в детском, так и взрослом возрасте. С открытием генетических основ этиологии заболевания перспективным направлением в лечении является применение патогенетической терапии с использованием гуманизированных моноклональных антител. Однако данный вид терапии требует дальнейших исследований.

Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal-dominantly inherited disease characterized by various vascular defects, including nosebleeds, dilation of blood vessels (telangiectasias), and arteriovenous malformations (AVMs) in the lungs and other internal organs. Pulmonary AVMs are observed in 15 - 50% of patients with HHT. The disease manifests in childhood, with the severity of clinical manifestations increasing throughout the patient’s life. The eponymous name of Randu - Osler - Weber disease comes from the surnames of the physicians who first described it in the mid-19th century. Despite some progress in understanding its etiology and pathogenesis, treatment tactics remains incomplete.

The aim of this review is to systematize information on the etiology, diagnosis, and treatment of HHT. This review presents the current status of the problem, lists the main diagnostic tests and the principles of pharmacological and surgical treatment.

Conclusion. The polyorganic lesions in HHT require an interdisciplinary approach to the management of these patients both in childhood and in adulthood. With the discovery of the genetic basis of the disease, pathogenetic therapy with humanized monoclonal antibodies seems promising. However, this therapy requires further research.

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