A case report of recurrent acute ischemic strokes in a young patient with Rendu-Osler-Weber disease

Rendu-Osler-Weber disease is a rare inherited disease of the vasculature, characterized by the development of multiple telangiectasias of the skin and mucous membranes, as well as hemorrhagic syndrome of various localization. We present a case report of recurrent acute ischemic strokes in a young patient with Rendu-Osler-Weber disease. In the first part of the article, literature data on the incidence, etiology, pathogenesis, features of clinical manifestations of hereditary hemorrhagic telangiectasia, modern methods of diagnosis and treatment are presented. In the second part of the article, a rare case of recurrent acute ischemic strokes in a young patient with Rendu-Osler-Weber disease, caused by a paradoxical embolism due to pulmonary arteriovenous malformation was demonstrated. The chest CT detected a pulmonary arteriovenous malformation. The data of medical, including anamnesis, a description of the objective and neurological status, the results of laboratory and instrumental methods of examination are presented. The patient was recommended angiopulmonography, during which the pulmonary arteriovenous malformation was successfully embolized. This case indicates the need for targeted examination and monitoring of patients with hereditary hemorrhagic telangiectasia. For the purpose of early detection of vascular malformations in patients with Rendu-Osler-Weber disease and the timely administration of therapy to prevent possible serious cerebrovascular complications, we recommend performing the chest CT.

болезнь Рандю-Ослера-Вебера, легочная артериовенозная мальформация, инфаркт мозга, клинический случай, эмболотерапия, Rendu-Osler-Weber disease, pulmonary arteriovenous malformation, stroke, clinical case, embolotherapy

1. Воробьев А.И. Руководство по гематологии. 3-е изд. т. 3. М: Ньюдиамед; 2005.

2. Ливандовский Ю.А., Антонова М.А. Особенности клинического течения наследственной геморрагической телеангиэктазии. Трудный пациент. 2007; 4 (5): 7-11.

3. McAllister K.A., Grogg K.M., Johnson D.W., Gallione C.J., Baldwin M.A., Jackson C.E. et al. Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1. Nat. Genet. 1994; 8: 345-351.

4. Johnson D.W., Berg J.N., Gallione C.J., McAllister K.A., Warner J.P., Helmbold E.A. et al. A second locus for hereditary haemorrhagic telangiectasia maps to chromosome 12. Genome Res. 1995; 5: 21-8.

5. Fontalba A., Fernandez-Luna J.L., Zarrabeitia R., Recio-Poveda L., Albinana V., Ojeda-Fernandez M.L. et al. Copy number variations in endoglin locus: mapping of large deletions in Spanish families with hereditary haemorrhagic telangiectasia type 1. BMC Med. Genet. 2013; 14: 121.

6. Gallione C., Aylsworth A.S., Beis J., Berk T., Bernhardt B., Clark R.D. et al. Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome. Am. J. Med. Genet. A. 2010; 152a: 333-9.

7. Ливандовский Ю.А., Тупикина Н.В. Болезнь Рандю-Ослера. В кн.: Справочник поликлинического врача. 2009; 8: 3-9.

8. Donaldson J.W., McKeever T.M., Hall I.P., Hubbard R.B., Fogarty A.W. The UK prevalence of hereditary haemorrhagic telangiectasia and its association with sex, socioeconomic status and region of residence: a population-based study. Thorax. 2014; 69:161-7.

9. Cottin V., Dupuis-Girod S., Lesca G. et al. Pulmonary vascular manifestations of hereditary haemorrhagic telangiectasia (Rendu-Osler disease). Respiration. 2007; 74: 361-78.

10. Shovlin C.L., Chamali B., Santhirapala V., Livesey J.A., Angus G., Manning R. et al. Ischaemic strokes in patients with pulmonary arteriovenous malformations and hereditar y hemorrhagic telangiectasia: associations with iron deficiency and platelets. PLoS One. 2014; 9(2): e88812.

11. Nishida T., Faughnan M.E., Krings T., Chakinala M., Gossage J.R., Young W.L. et al. Brain arteriovenous malformations associated with hereditary hemorrhagic telangiectasia: gene-phenotype correlations. Am. J. Med. Genet. A. 2012; 158a: 2829-2834.

12. Woodall M.N., McGettigan M., Figueroa R., Gossage J.R., Alleyne C.H., Jr. Cerebral vascular malformations in hereditary hemorrhagic telangiectasia. J. Neurosurg. 2014; 120: 87-92.

13. Memeo M., Stabile Ianora A.A., Scardapane A. et al. Hepatic involvement in hereditary hemorrhagic telangiectasia: CT findings. Abdom. Imaging. 2004; 29: 211-20.

14. Соколова Л.В., Мизерницкий Ю.Л., Полищук Л.А., Котов В.С., Волкова Я.Ю. Болезнь Ослера-Рандю-Вебера. Трудный пациент. 2008; 6 (9): 22-24.

15. Pau H., Carney A.S., Murty G.E. Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome): otorhinolaryngological manifestations. Clin. Otolaryngol. 2001; 26 (2): 93-98.

16. Gossage J.R., Kanj G. Pulmonary arteriovenous malformations. A state of the art review. Am. J. Respir. Crit. Care Med. 1998; 158: 643-661.

17. Manawadu D., Vethanayagam D., Ahmed S.N. Hereditary hemorrhagic telangiectasia: transient ischemic attacks. CMAJ. 2009; 180: 836-837.

18. Shovlin C.L., Guttmacher A.E., Buscarini E. et al. Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). Am. J. Med. Genet. 2000; 91: 66-67.

19. Cottin V., Plauchu H., Bayle J.Y., BartheletM., Revel D., Cordier J.F. Pulmonary arteriovenous malformations in patients with hereditary hemorrhagic telangiectasia. Am. J. Reaspir Crit. Care Med. 2004; 169: 994-1000.

20. Жаркова М.С., Лапшин А.В., Герман Е.Н., Маевская М.В., Соколина И.А., Ивашкин В.Т. Сосудистые мальформации легких и печени у больного с наследственной геморрагической телеангиэктазией. РЖГГК. 2011; 2: 62-68.

21. Brinjikji W., Iyer V.N., Sorenson T., Lanzino G. Cerebrovascular manifestations of hereditary haemorrhagic telangiectasia. Stroke. 2015; 46 (11): 3329-3337.

22. Angriman F., Ferreyro B.L., Wainstein E.J., Serra M.M. Pulmonary arteriovenous malformations and embolic complications in patients with hereditary hemorrhagic telangiectasia. Arch. Bronconeumol. 2014; 50: 301304.

23. Shovlin C.L., Jackson J.E., Bamford K.B., Jenkins I.H., Benjamin A.R., Ramadan H. et al. Primary determinants of ischaemic stroke/brain abscess risks are independent of severity of pulmonary arteriovenous malformations in hereditary haemorrhagic telangiectasia. Thorax. 2008; 63: 259-266.

24. Vase P.M., Arendrup H. Pulmonary arteriovenous fistulas in hereditary hemorrhagic telangiectasia. Acta Med. Scand. 1985; 218: 105-9.

25. Dines D.E., Arms R.A., Bernatz P.E. et al. Pulmonary arteriovenous fistulas. Mayo Clin. Proc. 1974; 49: 4605.

26. Remy J., Remy-Jardin M., Wattinne L. et al. Pulmonary arteriovenous malformations: evaluations with CT of the chest before and after treatment. Radiology. 1992; 182: 809-16.

27. Fraga J.C., Favero E., Contelli F. et al. Surgical treatment of congenital pulmonary arteriovenous fistula in children. Pediatr. Surg. 2008; 43: 1365-7.

28. White R.I., Pollak J.S., Wirth J.A. Pulmonary arteriovenous malformations: diagnosis and transcatheter embolotherapy. J. Vasc. Intervent. Radiol. 1996; 7: 787-804.

29. Ribeiro E., Cogez J., Babin E., Viader F., Defer G. Stroke in hereditary hemorrhagic telangiectasia patients. New evidence for repeated screening and early treatment of pulmonary vascular malformations: two case reports. BMC Neurol. 2011; 11: 84.

30. Faughnan M.E., Palda V.A., Garcia-Tsao G., Geisthoff U.W., McDonald J., Proctor D.D. et al. HHT Foundation International - Guidelines Working Group. International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia. J. Med. Genet. 2011; 48: 73-87.