Rheumatoid arthritis associated with Rendu — Osler — Weber disease: Second description*

Леонид Чурилов; Jozélio  Freire de Carvalho; Carlos Ewerton  Maia Rodrigues; Cristiano Augusto  de Freitas Zerbini

doi:10.21638/spbu11.2021.301

Авторы

Леонид Чурилов ВЕСТНИК САНКТ-ПЕТЕРБУРГСКОГО УНИВЕРСИТЕТА МЕДИЦИНА
Jozélio Freire de Carvalho Institute for Health Sciences, Federal University of Bahia, Rua Augusto Viana, Palácio da Reitoria, Canela, Salvador, 40110-909, Brazil
Carlos Ewerton Maia Rodrigues Universidade de Fortaleza, Av. Washington Soares, 1321 — Edson Queiroz, Fortaleza — CE, 60811-905, Brazil
Cristiano Augusto de Freitas Zerbini Centro Paulista de Investigação Clinica, R. Moreira e Costa, 342 — Ipiranga, São Paulo — SP, 04266-010, Brazil

DOI:

https://doi.org/10.21638/spbu11.2021.301

Аннотация

The article presents second ever published description of rheumatoid arthritis case co-morbid with Rendu — Osler — Weber disease (hereditary hemorrhagic teleangiectasia) in a 63-yearsold female patient. The aim is describing the first case report of a patient who after a confirmed hereditary hemorrhagic teleangiectasia diagnosis developed rheumatoid arthritis one year later. Historical data and brief pathophysiological characteristic of both diseases and their possible intermingle are included: (i) mutant genes in hereditary hemorrhagic teleangiectasia all encode proteins involved in the TGF-beta signaling pathway, and increased plasma levels of TGF-beta-1 and vascular endothelial growth factor have been seen in such patients; (ii) TGF-beta plays a role in the development of synovial cell proliferation, inflammation, and angiogenesis in rheumatoid arthritis; (iii) TGF-β regulates thymic T-cell selection, inhibits cytotoxic T lymphocyte (CTL), Th1-, and Th2-cell differentiation while promoting peripheral * Contribution of L. P. Churilov was supported by the grant of the Government of Russian Federation for state support of scientific research carried out under the supervision of leading scientists, agreement 14.W03.31.0009.Treg-, Th17-, Th9-, and Tfh-cell generation, and T-cell tissue residence in response to immune challenges, all essential for pathogenesis of rheumatoid arthriitis. The defect in its reception as well as its compensatory increased blood content theoretically can alter autoimmunity thus facilitating in Rendu — Osler — Weber disease patients the development of systemic autoimmune diseases.

Ключевые слова:

rheumatoid arthritis, Rendu — Osler — Weber disease, hereditary hemorrhagic telangiectasia

Скачивания

Данные скачивания пока недоступны.

Библиографические ссылки

References

Gabriel S. E. The epidemiology of rheumatoid arthritis. Rheum. Dis. Clin. North. Am., 2001, vol. 27, no. 2, pp. 269–281. https://doi.org/10.1016/S0889-857X(05)70201-5

Marcucci E., Bartoloni E., Alunno A., Leone M. C., Cafaro G., Luccioli F., Valentini V., Valentini E., La Paglia G. M. C., Bonifacio A. F., Gerli R. Extra-articular rheumatoid arthritis. Reumatismo. 2018, vol. 70, no. 4, pp. 212–224. https://doi.org/10.4081/reumatismo.2018.1106

Entezami P., Fox D. A., Clapham P. J., Chung K. C. Historical perspective on the etiology of rheumatoid arthritis. Hand Clin., 2011, vol. 27, no. 1, pp. 1–10. https://doi.org/10.1016/j.hcl.2010.09.006

Govani F. S., Shovlin C. L. Hereditary haemorrhagic telangiectasia: a clinical and scientific review. Europ. J. Hum. Genet., 2009, vol. 17, no. 7, pp. 860–871. https://doi.org/10.1038/ejhg.2009.35

Rendu M. Epistaxis répétés chez un sujet porteur de petits angiomes cutanés et muqueux.Lancette française: gazette des hôpitaux civils et militaires, 1896, vol. 69, pp. 1322–1323.

Osler W. B. On a family form of recurring epistaxis, associated with multiple telangiectases of the skin and mucous membranes. The Johns Hopkins Hospital Bulletin,1901, vol. 12, pp. 333–337.

Weber F. P. A note on cutaneous telangiectases and their etiology. Comparison with the etiology of haemorrhoids and ordinary varicose veins. Edinburgh Med. J., 1904, pp. 346–349.

Garcia R. I. D., Cecatto S. B., Costa K. S., Veiga A. F., Uvo I. P., Rapoport P. B. Síndrome de Rendu-Osler-Weber: Tratamento clínico e cirúrgico. Rev. Bras. Otorrinolaringol., 2003, vol. 69, no. 4, pp. 577–580. https://doi.org/10.1590/s0034-72992003000400022

Kanchwala A. A., Awan O., Javiad M. Coexistence of Hereditary Hemorrhagic Teleangiectasia and Rheumatoid Arthritis in a Young Man with Normal Parental Genotype. Chest, 2009, vol. 136 (Meeting Abstracts), pp. 20–21.

Herbeuval R., Cuny G., Larcan A. Maladie D’Osler post-corticotherapique. Rev. Med. Nancy, 1957,vol. 82, pp. 286–290.

Desproges-Gotteron R., Françon F., Diaz R. Un cas d’arthrite purulente du genou au cours d’une angiomatose de Rendu-Osler (Telangectasis hereditaria hemorrhagica). Vie Med. Can. Fr., 1973, vol. 2, no. 3, pp. 223–225.

Calvo-Alén J., Loza E., Alonso J. L., Rodríguez-Valverde V. Pseudohaemarthrosis: A New Manifestation of Osler-Rendu-Weber Disease. Ann. Rheum. Dis., 1992, vol. 51, no. 8, p. 1021.

Fiedorowicz-Fabrycy I., Moskwa A., Brzosko M. Odruchowa algodystrofia kończyny górnej u chorej na chorobe Rendu-Oslera-Webera. Pol. Tyg. Lek., 1987, vol. 42, no. 5, pp. 127–129.

Aagaard K. S., Kjeldsen A. D., Tørring P. M., Green A. Comorbidity among hereditary hemorrhagic teleangiectasia patients and their controls in a 20 years follow-up period. Orphanet. J. Rare Dis., 2018,vol. 13, p. 223. https://doi.org/10.1186/s13023-018-0962-8

Braverman I. M. Do the telangiectases of hereditary hemorrhagic telangiectasia and the calcinosis, Raynaud’s disease, sclerodactyly, telangiectasia variant of scleroderma have a common etiology Dermatology, 2006, vol. 213, no. 2, pp. 81–82. https://doi.org/10.1159/000093844

Qin Y., Yin G., Xie Q. B. Severe anemia caused by hereditary hemorrhagic telangiectasia in a patient with Sjögren’s syndrome and primary biliary cirrhosis. Chin. Med. J. (Eng.), 2019, vol. 132, no. 19,pp. 2382–2383. https://doi.org/10.1097/CM9.0000000000000434

Sanjabi S., Oh S. A., Li M. O. Regulation of the Immune Response by TGF-β: From Conception to Autoimmunity and Infection. Cold Spring Harb. Perspect. Biol., 2017, vol. 9, no. 6, a022236. https://doi.org/10.1101/cshperspect.a022236