Clinical case of Rendu–Osler–Weber disease in a pregnant woman: 616-005.1:616.151.5
Тромбоз, гемостаз и реология

Tromboz, Gemostaz I Reologiya
scientific and practical journal

ISSN 2078–1008 (Print); ISSN 2687-1483 (online)

Keywords

Rendu–Osler–Weber disease
peculiarities of hemostasis
pregnancy
telangiectasia

Abstract

Summary. The article describes a case of Rendu–Osler–Weber disease, a rare condition caused by genetically determined anatomical and functional changes in blood vessels. These changes include absence or degeneration, hypoplasia and dysplasia of the muscular and elastic membranes. This case is unique due to the disease being present in a pregnant woman. This paper includes the patient’s medical history from childhood, as well as data from laboratory and instrumental examinations conducted in the hospital. Additionally, the paper covers the management of childbirth and anesthesia, taking into account the patient’s medical condition. A comprehensive examination of hemostasis and the pathogenetically justified use of medications made it possible to avoid radiation exposure from instrumental research methods and to choose a safe, optimal method of delivery and anesthesia for this patient.

For citation: Bulanova E.L., Rabotinsky S.E., Sizova I.Yu., Osokin I.P., Sheina M.A. Clinical case of Rendu–Osler–Weber disease in a pregnant woman. Tromboz, gemostaz i reologiya. 2024;(2):76–81. (In Russ.).

References

  1. Prasad C., Chudley A.E. History of genetics through philately: Sir William Osler (1849–1919) and the Osler‐Weber‐Rendu syndrome. Clin Genet. 2002;61(6):404–7. DOI: 10.1034/j.1399‐0004. 2002.610602.x.
  2. Baydarova M.D., Tupikin K.A., Andreytseva O.I. Hereditary hemorrhagic teleangiectasia: the topical problems of diagnostics and surgical treatment. Dokazatel’naya gastroenterologiya. 2016;5(4):36– 43. (In Russ.). DOI: 10.17116/dokgastro20165436‐43.
  3. Barmenova A.S., Bayesheva T.A., Umbetalina N.S., Suhova V.A. Rеndu‐Osler‐Weber disease at 75 years old woman. Arhiv” vnutrennej mediciny. 2017;7(4):318–22. (In Russ.). DOI: 10.20514/2226 ‐6704‐2017‐7‐4‐318‐322.
  4. Cottin V., Dupuis‐Girod S., Lesca G., Cordier J.‐F. Pulmonary vascular manifestations of hereditary hemorrhagic telangiectasia (Rendu‐Osler disease). Respiration. 2007;74(4):361–78. DOI: 10.1159/000103205.
  5. Taganov A. V., Tamrazova O. B., Molochkov A. V. et al. Modern aspects of Rendu–Osler–Weber disease. Pediatriya. Zhurnal imeni G.N. Speranskogo. 2019;98(6):127–33. (In Russ.). DOI: 10.24110/00 31‐403X‐2019‐98‐6‐127‐133.
  6. McDonald J., Wooderchak‐Donahue W., VanSant Webb C. et al. Hereditary hemorrhagic telangiectasia: genetics and molecular diagnostics in a new era. Front Genet. 2015;6:1–8. DOI: 10.3389/ fgene.2015.00001.
  7. Faughnan M.E., Palda V.A., Garcia‐Tsao G. et al.; HHT Foundation International — Guidelines Working Group. International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia. J Med Genet. 2011;48(2):73–87. DOI: 10.1136/ jmg.2009.069013.
  8. Ardelean D.S., Letarte M. Anti‐angiogenic therapeutic strategies in hereditar y hemorrhagic telangiectasia. Front Genet. 2015;6:35. DOI: 10.3389/fgene.2015.00035.
  9. Bari O., Cohen Р.R. Hereditary hemorrhagic telangiectasia and pregnancy: potential adverse events and pregnancy outcomes. Int J Women’s Health. 2017;9:373–8. DOI: 10.2147/IJWH.S131585.
  10. Radetskaya L.S., Makatsariya A.D. Pregnancy and delivery in patients with mesenchymal dysplasia (Marfan syndrome, EhlersDanlos syndrome, hereditary hemorrhagic telangiectasia). Obstetrics, Gynecology and Reproduction. 2016;10(1):100–10. (In Russ.). DOI: 10.17749/2313‐7347.2015.10.1.100‐110.