Железодефицитная анемия у пациентки с наследственной геморрагической телеангиоэктазией

Моздон М.А., Пономарев Р.В., Цветаева Н.В., Шабрин А.В., Ермаченкова Е.И., Ларичев С.Е., Лукина Е.А. Железодефицитная анемия у пациентки с наследственной геморрагической телеангиоэктазией. Терапевтический архив. 2023;95(7):580–585. DOI: 10.26442/00403660.2023.07.202303

© ООО «КОНСИЛИУМ МЕДИКУМ», 2023 г.

________________________________________________

Mozdon MA, Ponomarev RV, Tsvetaeva NV, Shabrin AV, Ermachenkova EI, Larichev SE, Lukina EA. Iron deficiency anemia in a patient with hereditary hemorrhagic telangiectasia. Case report. Terapevticheskii Arkhiv (Ter. Arkh.). 2023;95(7):580–585. DOI: 10.26442/00403660.2023.07.202303

Читать PDF

Аннотация

Болезнь Рандю–Ослера–Вебера, или наследственная геморрагическая телеангиоэктазия (НГТ) – редкое генетическое заболевание, наследуемое по аутосомно-доминантному типу. Характеризуется сосудистыми дисплазиями с образованием телеангиоэктазий на коже, слизистых оболочках респираторного и пищеварительного трактов, артериовенозными мальформациями (АВМ) во внутренних органах, что проявляется кровоточивостью. Диагноз устанавливают на основании критериев Кюрасао: спонтанные рецидивирующие носовые кровотечения, наличие множественных телеангиоэктазий характерных локализаций, наличие АВМ, а также семейный анамнез (установленный диагноз НГТ у родственника 1-й степени родства). Терапия заболевания направлена на предупреждение и купирование желудочно-кишечных, носовых кровотечений, коррекцию железодефицитной анемии. Перспективным методом терапии является применение ингибиторов ангиогенеза, в частности бевацизумаба. В статье представлено описание клинического случая НГТ у женщины 49 лет с телеангиоэктазиями на слизистой языка, желудочно-кишечного тракта, а также АВМ печени.

Ключевые слова: болезнь Рандю–Ослера–Вебера, наследственная геморрагическая телеангиоэктазия, носовые кровотечения, железодефицитная анемия, клинический случай

________________________________________________

Rendu–Osler–Weber disease or hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal dominant disease. It is characterized by vascular dysplasia with the formation of telangiectasias on the skin, mucous membranes of the respiratory and digestive tracts, arteriovenous malformations (AVMs) in the internal organs, which is manifested by bleeding. Diagnosis is based on Curacao criteria: recurrent and spontaneous nosebleeds, multiple telangiectases on the characteristic localizations, AVMs in one or more of the internal organs, a family history of HHT (i.e. first-degree relative who meets these same criteria for definite HHT). Therapy is aimed at preventing and stopping gastrointestinal, nosebleeds, correction of iron deficiency anemia. A promising method of therapy is the use of angiogenesis inhibitors, in particular bevacizumab. The article presents a description of a clinical case of HHT in a 49-year-old woman with telangiectisia on the mucous membrane of the tongue, gastrointestinal tract and liver AVMs.

Keywords: Rendu–Osler–Weber disease, hereditary hemorrhagic telangiectasia, nosebleeds, iron deficiency anemia, clinical case

Полный текст

Материалы доступны только для специалистов сферы здравоохранения. Авторизуйтесь или зарегистрируйтесь.

Список литературы

1. Kumar N, Garg N, Khunger M, Gupta A. Optimal management of hereditary hemorrhagic telangiectasia. J Blood Med. 2014;5:191-206. DOI:10.2147/jbm.s45295
2. Shovlin C. Hereditary haemorrhagic telangiectasia: pathophysiology, diagnosis and treatment. Blood Rev. 2010;24(6):203-19. DOI:10.1016/j.blre.2010.07.001
3. Kanellopoulou T, Alexopoulou A. Bevacizumab in the treatment of hereditary hemorrhagic telangiectasia. Expert Opin Biol Ther. 2013;13(9):1315-23. DOI:10.1517/14712598.2013.813478
4. McDonald J, Wooderchak-Donahue W, VanSant Webb C, et al. Hereditary hemorrhagic telangiectasia: genetics and molecular diagnostics in a new era. Front Genet. 2015;6:1. DOI:10.3389/fgene.2015.00001
5. Gallione CJ, Richards JA, Letteboer TGW, et al. SMAD4 mutations found in unselected HHT patients. J Med Genet. 2006;43(10):793-7. DOI:10.1136/jmg.2006.041517
6. Shovlin CL, Guttmacher AE, Buscarini E, et al. Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). Am J Med Genet. 2000;91(1):66-7.
DOI:10.1002/(sici)1096‑8628(20000306)91:1<66::aid-ajmg12>3.0.co;2-p
7. van Gent MWF, Velthuis S, Post MC, et al. Hereditary hemorrhagic telangiectasia: How accurate are the clinical criteria? Am J Med Genet Part A. 2013;161(3):461-6. DOI:10.1002/ajmg.a.35715
8. Pierucci P, Lenato GM, Suppressa P, et al. A long diagnostic delay in patients with Hereditary Haemorrhagic Telangiectasia: a questionnaire-based retrospective study. Orphanet J Rare Dis. 2012;7:33. DOI:10.1186/1750-1172-7-33
9. Whitehead KJ, Sautter NB, McWilliams JP, et al. Effect of Topical Intranasal Therapy on Epistaxis Frequency in Patients With Hereditary Hemorrhagic Telangiectasia. JAMA. 2016;316(9):943. DOI:10.1001/jama.2016.11724
10. Gaillard S, Dupuis-Girod S, Boutitie F, et al. Tranexamic acid for epistaxis in hereditary hemorrhagic telangiectasia patients: a European cross-over controlled trial in a rare disease. J Thromb Haemost. 2014;12(9):1494-502. DOI:10.1111/jth.12654
11. Boyer H, Fernandes P, Duran O, et al. Office-based sclerotherapy for recurrent epistaxis due to hereditary hemorrhagic telangiectasia: a pilot study. Int Forum Allergy Rhinol. 2011;1(4):319-23. DOI:10.1002/alr.20053
12. Kuan EC, Peng KA, Thompson CF, et al. Sinonasal quality of life outcomes following laser treatment of epistaxis related to hereditary hemorrhagic telangiectasia. Lasers Med Sci. 2017;32(3):527-31. DOI:10.1007/s10103-017-2144-7
13. Lesnik GT, Ross DA, Henderson KJ, et al. Septectomy and Septal Dermoplasty for the Treatment of Severe Transfusion-Dependent Epistaxis in Patients with Hereditary Hemorrhagic Telangiectasia and Septal Perforation. Am J Rhinol. 2007;21(3):312-5. DOI:10.2500/ajr.2007.21.3017
14. Ingrosso M, Sabbà C, Pisani A, et al. Evidence of Small-Bowel Involvement in Hereditary Hemorrhagic Telangiectasia: a Capsule-Endoscopic Study. Endoscopy. 2004;36(12):1074-9. DOI:10.1055/s-2004-826045
15. Grève E, Moussata D, Gaudin JL, et al. High diagnostic and clinical impact of small-bowel capsule endoscopy in patients with hereditary hemorrhagic telangiectasia with overt digestive bleeding and/or severe anemia. Gastrointest Endosc. 2010;71(4):760-7. DOI:10.1016/j.gie.2009.11.004
16. Kwan V, Bourke MJ, Williams SJ, et al. Argon Plasma Coagulation in the Management of Symptomatic Gastrointestinal Vascular Lesions: Experience in 100 Consecutive Patients with Long-Term Follow-Up. Am J Gastroenterol. 2006;101(1):58-63. DOI:10.1111/j.1572-0241.2006.00370.x
17. Pahl K, Choudhury A, Kasthuri RS. Causes and severity of anemia in hereditary hemorrhagic telangiectasia. Blood. 2016;128:3776. DOI:10.1182/blood
18. Клинические рекомендации. Железодефицитная анемия. Гематологическое общество, Национальное общество детских гематологов, онкологов. 2021 ID: 669 Рубрикатор клинических рекомендаций Минздрава России. Режим доступа: https://cr.minzdrav.gov.ru/schema/669_1. Ссылка активна на 02.06.2023 [Clinical guidelines. Iron-deficiency anemia. Hematological Society, National Society of Pediatric Hematologists, Oncologists. 2021 ID: 669 Rubricator of clinical recommendations of the Russian Ministry of Health. Available at: https://cr.minzdrav.gov.ru/schema/669_1. Accessed: 02.06.2023 (in Russian)].
19. Alkhalid Y, Darji Z, Shenkar R, et al. Multidisciplinary coordinated care of hereditary hemorrhagic telangiectasia (Osler–Weber–Rendu disease). Vasc Med. 2023;28(2):153-65. DOI:10.1177/1358863x231151731
20. Thompson AB, Ross DA, Berard P, et al. Very Low Dose Bevacizumab for the Treatment of Epistaxis in Patients with Hereditary Hemorrhagic Telangiectasia. Allergy Rhinol. 2014;5(2):ar.2014.5.0091. DOI:10.2500/ar.2014.5.0091
21. Iyer VN, Apala DR, Pannu BS, et al. Intravenous Bevacizumab for Refractory Hereditary Hemorrhagic Telangiectasia–Related Epistaxis and Gastrointestinal Bleeding. Mayo Clinic Proceed. 2018;93(2):155-66. DOI:10.1016/j.mayocp.2017.11.013
22. Epperla N, Kapke JT, Karafin M, et al. Effect of systemic bevacizumab in severe hereditary hemorrhagic telangiectasia associated with bleeding. Am J Hematol. 2016;91(6):E313-4. DOI:10.1002/ajh.24367
23. Dupuis-Girod S, Ambrun A, Decullier E, et al. ELLIPSE Study. MAbs. 2014;6(3):793-8. DOI:10.4161/mabs.28025
24. Faughnan ME, Mager JJ, Hetts SW, et al. Second International Guidelines for the Diagnosis and Management of Hereditary Hemorrhagic Telangiectasia. Ann Intern Med. 2021;174(7):1035-6. DOI:10.7326/l21-0067
25. Калинина М.П., Грачев Н.С., Кумскова М.А., Тимофеева О.К. Успешное лечение рецидивирующих носовых кровотечений введением бевацизумаба в подслизистую оболочку у пациентки с наследственной геморрагической телеангиоэктазией. Вопросы гематологии/онкологии и иммунопатологии в педиатрии. 2014;13(4):75-8 [Kalinina MP, Grachev NS, Kumskova MA, Timofeeva OK. Successful treatment of recurrent epistaxis with submucosal injection of bevacizumab in a patient with hereditary hemorrhagic telangiectasia. Questions of hematology/oncology and immunopathology in pediatrics. 2014;13(4):75-8 (in Russian)].

________________________________________________

1. Kumar N, Garg N, Khunger M, Gupta A. Optimal management of hereditary hemorrhagic telangiectasia. J Blood Med. 2014;5:191-206. DOI:10.2147/jbm.s45295
2. Shovlin C. Hereditary haemorrhagic telangiectasia: pathophysiology, diagnosis and treatment. Blood Rev. 2010;24(6):203-19. DOI:10.1016/j.blre.2010.07.001
3. Kanellopoulou T, Alexopoulou A. Bevacizumab in the treatment of hereditary hemorrhagic telangiectasia. Expert Opin Biol Ther. 2013;13(9):1315-23. DOI:10.1517/14712598.2013.813478
4. McDonald J, Wooderchak-Donahue W, VanSant Webb C, et al. Hereditary hemorrhagic telangiectasia: genetics and molecular diagnostics in a new era. Front Genet. 2015;6:1. DOI:10.3389/fgene.2015.00001
5. Gallione CJ, Richards JA, Letteboer TGW, et al. SMAD4 mutations found in unselected HHT patients. J Med Genet. 2006;43(10):793-7. DOI:10.1136/jmg.2006.041517
6. Shovlin CL, Guttmacher AE, Buscarini E, et al. Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). Am J Med Genet. 2000;91(1):66-7.
DOI:10.1002/(sici)1096‑8628(20000306)91:1<66::aid-ajmg12>3.0.co;2-p
7. van Gent MWF, Velthuis S, Post MC, et al. Hereditary hemorrhagic telangiectasia: How accurate are the clinical criteria? Am J Med Genet Part A. 2013;161(3):461-6. DOI:10.1002/ajmg.a.35715
8. Pierucci P, Lenato GM, Suppressa P, et al. A long diagnostic delay in patients with Hereditary Haemorrhagic Telangiectasia: a questionnaire-based retrospective study. Orphanet J Rare Dis. 2012;7:33. DOI:10.1186/1750-1172-7-33
9. Whitehead KJ, Sautter NB, McWilliams JP, et al. Effect of Topical Intranasal Therapy on Epistaxis Frequency in Patients With Hereditary Hemorrhagic Telangiectasia. JAMA. 2016;316(9):943. DOI:10.1001/jama.2016.11724
10. Gaillard S, Dupuis-Girod S, Boutitie F, et al. Tranexamic acid for epistaxis in hereditary hemorrhagic telangiectasia patients: a European cross-over controlled trial in a rare disease. J Thromb Haemost. 2014;12(9):1494-502. DOI:10.1111/jth.12654
11. Boyer H, Fernandes P, Duran O, et al. Office-based sclerotherapy for recurrent epistaxis due to hereditary hemorrhagic telangiectasia: a pilot study. Int Forum Allergy Rhinol. 2011;1(4):319-23. DOI:10.1002/alr.20053
12. Kuan EC, Peng KA, Thompson CF, et al. Sinonasal quality of life outcomes following laser treatment of epistaxis related to hereditary hemorrhagic telangiectasia. Lasers Med Sci. 2017;32(3):527-31. DOI:10.1007/s10103-017-2144-7
13. Lesnik GT, Ross DA, Henderson KJ, et al. Septectomy and Septal Dermoplasty for the Treatment of Severe Transfusion-Dependent Epistaxis in Patients with Hereditary Hemorrhagic Telangiectasia and Septal Perforation. Am J Rhinol. 2007;21(3):312-5. DOI:10.2500/ajr.2007.21.3017
14. Ingrosso M, Sabbà C, Pisani A, et al. Evidence of Small-Bowel Involvement in Hereditary Hemorrhagic Telangiectasia: a Capsule-Endoscopic Study. Endoscopy. 2004;36(12):1074-9. DOI:10.1055/s-2004-826045
15. Grève E, Moussata D, Gaudin JL, et al. High diagnostic and clinical impact of small-bowel capsule endoscopy in patients with hereditary hemorrhagic telangiectasia with overt digestive bleeding and/or severe anemia. Gastrointest Endosc. 2010;71(4):760-7. DOI:10.1016/j.gie.2009.11.004
16. Kwan V, Bourke MJ, Williams SJ, et al. Argon Plasma Coagulation in the Management of Symptomatic Gastrointestinal Vascular Lesions: Experience in 100 Consecutive Patients with Long-Term Follow-Up. Am J Gastroenterol. 2006;101(1):58-63. DOI:10.1111/j.1572-0241.2006.00370.x
17. Pahl K, Choudhury A, Kasthuri RS. Causes and severity of anemia in hereditary hemorrhagic telangiectasia. Blood. 2016;128:3776. DOI:10.1182/blood
18. Clinical guidelines. Iron-deficiency anemia. Hematological Society, National Society of Pediatric Hematologists, Oncologists. 2021 ID: 669 Rubricator of clinical recommendations of the Russian Ministry of Health. Available at: https://cr.minzdrav.gov.ru/schema/669_1. Accessed: 02.06.2023 (in Russian).
19. Alkhalid Y, Darji Z, Shenkar R, et al. Multidisciplinary coordinated care of hereditary hemorrhagic telangiectasia (Osler–Weber–Rendu disease). Vasc Med. 2023;28(2):153-65. DOI:10.1177/1358863x231151731
20. Thompson AB, Ross DA, Berard P, et al. Very Low Dose Bevacizumab for the Treatment of Epistaxis in Patients with Hereditary Hemorrhagic Telangiectasia. Allergy Rhinol. 2014;5(2):ar.2014.5.0091. DOI:10.2500/ar.2014.5.0091
21. Iyer VN, Apala DR, Pannu BS, et al. Intravenous Bevacizumab for Refractory Hereditary Hemorrhagic Telangiectasia–Related Epistaxis and Gastrointestinal Bleeding. Mayo Clinic Proceed. 2018;93(2):155-66. DOI:10.1016/j.mayocp.2017.11.013
22. Epperla N, Kapke JT, Karafin M, et al. Effect of systemic bevacizumab in severe hereditary hemorrhagic telangiectasia associated with bleeding. Am J Hematol. 2016;91(6):E313-4. DOI:10.1002/ajh.24367
23. Dupuis-Girod S, Ambrun A, Decullier E, et al. ELLIPSE Study. MAbs. 2014;6(3):793-8. DOI:10.4161/mabs.28025
24. Faughnan ME, Mager JJ, Hetts SW, et al. Second International Guidelines for the Diagnosis and Management of Hereditary Hemorrhagic Telangiectasia. Ann Intern Med. 2021;174(7):1035-6. DOI:10.7326/l21-0067
25. Kalinina MP, Grachev NS, Kumskova MA, Timofeeva OK. Successful treatment of recurrent epistaxis with submucosal injection of bevacizumab in a patient with hereditary hemorrhagic telangiectasia. Questions of hematology/oncology and immunopathology in pediatrics. 2014;13(4):75-8 (in Russian).

Авторы

М.А. Моздон*1, Р.В. Пономарев1, Н.В. Цветаева1, А.В. Шабрин2,3, Е.И. Ермаченкова2, С.Е. Ларичев2,3, Е.А. Лукина1

1 ФГБУ «Национальный медицинский исследовательский центр гематологии» Минздрава России, Москва, Россия;
2 ГБУЗ «Городская клиническая больница №17» Департамента здравоохранения г. Москвы, Москва, Россия;
3 ФГАОУ ВО «Российский национальный исследовательский медицинский университет им. Н.И. Пирогова» Минздрава России, Москва, Россия
*mariamozdon@yandex.ru

________________________________________________

Maria A. Mozdon*1, Rodion V. Ponomarev1, Nina V. Tsvetaeva1, Aleksey V. Shabrin2,3, Evgeniya I. Ermachenkova2, Sergei E. Larichev2,3, Elena A. Lukina1

1 National Medical Research Center for Hematology, Moscow, Russia;
2 City Clinical Hospital №17, Moscow, Russia;
3 Pirogov Russian National Research Medical University, Moscow, Russia
*mariamozdon@yandex.ru

Назад к списку

Цель портала OmniDoctor – предоставление профессиональной информации врачам, провизорам и фармацевтам.