Редкий случай дыхательной недостаточности у пациентки с болезнью Рандю–Ослера–Вебера

Подзолков В.И., Покровская А.Е., Иванова В.С., Крылова К.Е., Лучкина П.В., Мурзаханова Ф.Е., Герасимова Д.Д., Медведев И.Д. Редкий случай дыхательной недостаточности у пациентки с болезнью Рандю–Ослера–Вебера. Consilium Medicum. 2024;26(12):886–890. DOI: 10.26442/20751753.2024.12.203097

© ООО «КОНСИЛИУМ МЕДИКУМ», 2024 г.

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Podzolkov VI, Pokrovskaya AE, Ivanova VS, Krylova KE, Luchkina PV, Murzakhanova FE, Gerasimova DD, Medvedev ID. An unusual case of respiratory failure in a patient with Randu–Osler–Weber disease. Case report. Consilium Medicum. 2024;26(12):886–890. DOI: 10.26442/20751753.2024.12.203097

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Аннотация

Клинический случай представляет интерес в связи со смещением вектора основных жалоб классического проявления болезни Рандю–Ослера–Вебера в виде носовых кровотечений и анемического синдрома в сторону синдрома выраженной дыхательной недостаточности, причиной которой является наличие артериовенозных мальформаций в легких. Обсуждается важность междисциплинарного подхода к диагностике и лечению пациентов с болезнью Рандю–Ослера–Вебера.

Ключевые слова: болезнь Рандю–Ослера–Вебера, наследственная геморрагическая телеангиоэктазия, артериовенозные мальформации, легочная артериальная гипертензия, бевацизумаб

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Clinical observation is of interest due to the shift in the vector of the main complaints of the classic manifestation of Randu–Osler–Weber disease in the form of epistaxis and anemia syndrome towards the syndrome of severe respiratory failure, the cause of which is the presence of arteriovenous malformations in the lungs. The importance of an interdisciplinary approach to the diagnosis and treatment of patients with Randu–Osler–Weber disease is discussed.

Keywords: Randu–Osler–Weber disease, hereditary hemorrhagic telangiectasia, arteriovenous malformations, pulmonary arterial hypertension, bevacizumab

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Список литературы

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2. Shovlin CL. Pulmonary arteriovenous malformations. Am J Respir Crit Care Med. 2014;190(11):1217-28. DOI:10.1164/rccm.201407-1254CI
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10. Sadick H, Hage J, Goessler U, et al. Does the genotype of HHT patients with mutations of the ENG and ACVRL1 gene correlate to different expression levels of the angiogenic factor VEGF? Int J Mol Med. 2008;22(5):575-80.
11. Braverman IM, Keh A, Jacobson BS. Ultrastructure and three-dimensional organization of the telangiectases of hereditary hemorrhagic telangiectasia. J Invest Dermatol. 1990;95(4):422-7. DOI:10.1111/1523-1747.ep12555569
12. Gallione CJ, Repetto GM, Legius E, et al. A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4). Lancet. 2004;363(9412):852-9. DOI:10.1016/S0140-6736(04)15732-2.
13. van Gent MW, Post MC, Snijder RJ, et al. Real prevalence of pulmonary right-to-left shunt according to genotype in patients with hereditary hemorrhagic telangiectasia: a transthoracic contrast echocardiography study. Chest. 2010;138(4):833-9. DOI:10.1378/chest.09-1849
14. Di Guardo F, Lo Presti V, Costanzo G, et al. Pulmonary Arteriovenous Malformations (PAVMs) and Pregnancy: A Rare Case of Hemothorax and Review of the Literature. Case Rep Obstet Gynecol. 2019;2019:8165791. DOI:10.1155/2019/8165791
15. Welle CL, Welch BT, Brinjikji W, et al. Abdominal manifestations of hereditary hemorrhagic telangiectasia: a series of 333 patients over 15 years. Abdom Radiol (NY).
2019;44(7):2384-31. DOI:10.1007/s00261-019-01976-7
16. Lebrin F, Srun S, Raymond K, et al. Thalidomide stimulates vessel maturation and reduces epistaxis in individuals with hereditary hemorrhagic telangiectasia. Nat Med. 2010;16(4):420-8. DOI:10.1038/nm.2131
17. Rohrmeier C, Sachs HG, Kuehnel TS. A retrospective analysis of low dose, intranasal injected bevacizumab (Avastin) in hereditary haemorrhagic telangiectasia. Eur Arch Otorhinolaryngol. 2012;269(2):531-6. DOI:10.1007/s00405-011-1721-9
18. Oosting S, Nagengast W, de Vries E. More on bevacizumab in hereditary hemorrhagic telangiectasia. N Engl J Med. 2009;361(9):931. DOI:10.1056/NEJMc091271
19. Riss D, Burian M, Wolf A, et al. Intranasal submucosal bevacizumab for epistaxis in hereditary hemorrhagic telangiectasia: a double-blind, randomized, placebo-controlled trial. Head Neck. 2015;37(6):783-7. DOI:10.1002/hed.23655

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1. Albiñana V, Cuesta AM, Rojas-P I, et al. Review of Pharmacological Strategies with Repurposed Drugs for Hereditary Hemorrhagic Telangiectasia Related Bleeding. J Clin Med. 2020;9(6):1766. DOI:10.3390/jcm9061766
2. Shovlin CL. Pulmonary arteriovenous malformations. Am J Respir Crit Care Med. 2014;190(11):1217-28. DOI:10.1164/rccm.201407-1254CI
3. Rendu M. Epistaxis repetes chez unsujet porteur de petits angiomies cutaneset muqueux. Bull Mem Soc Med Hop Paris. 1886;13:731-3.
4. Osler W. On a family form of recurring epistaxis. Associated with multiple telangiectases of the skin and mucous membranes. Johns Hopkins Med J. 1901;12:333-7.
5. Taganov AV, Tamrazova OB, Molochkov AV, et al. Modern aspects of Rendu–Osler–Weber disease. Pediatria Journal named after G.N. Speransky. 2019;98(6):127-33 (in Russian).
6. Ruiz-Llorente L, Gallardo-Vara E, Rossi E, et al. Endoglin and alk1 as therapeutic targets for hereditary hemorrhagic telangiectasia. Expert Opin Ther Targets. 2017;21(10):933-47. DOI:10.1080/14728222.2017.1365839
7. Shovlin CL. Hereditary haemorrhagic telangiectasia: pathophysiology, diagnosis and treatment. Blood Rev. 2010;24(6):203-19. DOI:10.1016/j.blre.2010.07.001
8. Abdalla SA, Letarte M. Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease. J Med Genet. 2006;43(2):97-110. DOI:10.1136/jmg.2005.030833
9. Mizernitskiy YuL, Shatokha PA, Sokolova LV. Randu–Osler–Weber disease (or hereditary hemorrhagic teleangectasia) with respiratory involvement. Pulmonologiya. 2023;33(2):216-24 (in Russian). DOI:10.18093/0869-0189-2023-33-2-216-224
10. Sadick H, Hage J, Goessler U, et al. Does the genotype of HHT patients with mutations of the ENG and ACVRL1 gene correlate to different expression levels of the angiogenic factor VEGF? Int J Mol Med. 2008;22(5):575-80.
11. Braverman IM, Keh A, Jacobson BS. Ultrastructure and three-dimensional organization of the telangiectases of hereditary hemorrhagic telangiectasia. J Invest Dermatol. 1990;95(4):422-7. DOI:10.1111/1523-1747.ep12555569
12. Gallione CJ, Repetto GM, Legius E, et al. A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4). Lancet. 2004;363(9412):852-9. DOI:10.1016/S0140-6736(04)15732-2.
13. van Gent MW, Post MC, Snijder RJ, et al. Real prevalence of pulmonary right-to-left shunt according to genotype in patients with hereditary hemorrhagic telangiectasia: a transthoracic contrast echocardiography study. Chest. 2010;138(4):833-9. DOI:10.1378/chest.09-1849
14. Di Guardo F, Lo Presti V, Costanzo G, et al. Pulmonary Arteriovenous Malformations (PAVMs) and Pregnancy: A Rare Case of Hemothorax and Review of the Literature. Case Rep Obstet Gynecol. 2019;2019:8165791. DOI:10.1155/2019/8165791
15. Welle CL, Welch BT, Brinjikji W, et al. Abdominal manifestations of hereditary hemorrhagic telangiectasia: a series of 333 patients over 15 years. Abdom Radiol (NY).
2019;44(7):2384-31. DOI:10.1007/s00261-019-01976-7
16. Lebrin F, Srun S, Raymond K, et al. Thalidomide stimulates vessel maturation and reduces epistaxis in individuals with hereditary hemorrhagic telangiectasia. Nat Med. 2010;16(4):420-8. DOI:10.1038/nm.2131
17. Rohrmeier C, Sachs HG, Kuehnel TS. A retrospective analysis of low dose, intranasal injected bevacizumab (Avastin) in hereditary haemorrhagic telangiectasia. Eur Arch Otorhinolaryngol. 2012;269(2):531-6. DOI:10.1007/s00405-011-1721-9
18. Oosting S, Nagengast W, de Vries E. More on bevacizumab in hereditary hemorrhagic telangiectasia. N Engl J Med. 2009;361(9):931. DOI:10.1056/NEJMc091271
19. Riss D, Burian M, Wolf A, et al. Intranasal submucosal bevacizumab for epistaxis in hereditary hemorrhagic telangiectasia: a double-blind, randomized, placebo-controlled trial. Head Neck. 2015;37(6):783-7. DOI:10.1002/hed.23655

Авторы

В.И. Подзолков, А.Е. Покровская*, В.С. Иванова, К.Е. Крылова, П.В. Лучкина, Ф.Е. Мурзаханова, Д.Д. Герасимова, И.Д. Медведев

ФГАОУ ВО «Первый Московский государственный медицинский университет им. И.М. Сеченова» Минздрава России (Сеченовский Университет), Москва, Россия
*pokrovskaya_a_e@staff.sechenov.ru

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Valery I. Podzolkov, Anna E. Pokrovskaya*, Victoria S. Ivanova, Kseniya E. Krylova, Polina V. Luchkina, Fatima E. Murzakhanova, Darya D. Gerasimova, Ivan D. Medvedev

Sechenov First Moscow State Medical University (Sechenov University), Moscow, Russia
*pokrovskaya_a_e@staff.sechenov.ru

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