Uncovering Behçet's Syndrome. A Case Report of a Rare Disease in Colombia
DOI:
https://doi.org/10.18041/2390-0512/biociencias.2.12032Keywords:
Behçet Disease, Stomatitis, Vasculitis, HLA-B51 antigenAbstract
Introduction: Behçet's syndrome is a multisystem disorder of unknown etiology classified as a variable-vessel vasculitis, it is characterized by oral and genital ulcers, skin lesions and ophthalmological, neurological or rheumatic manifestations, with oral and genital aphthae being the most frequent features; the presence of the HLA-B51 antigen is associated with up to 60% of cases.
Clinical case: 35-year-old female patient, with history of recurrent aphthous stomatitis who presented with one month evolution clinical picture characterized by the
appearance of painful ulcers in the oral cavity and genital associated with fever. Most likely infectious and inflammatory causes were ruled out and Behçet's syndrome diagnosis was considered by exclusion and application of international criteria; although the pathergy test was negative, the determination of the HLA-B51 allele was positive. The patient showed
improvement after treatment with corticosteroids and colchicine.
Discussion: Behçet's syndrome is a rare and underdiagnosed disorder in our environment with an approximate prevalence of 1.1 per 100,000 inhabitants. Diagnosis is often difficult and it must be made in an exclusion manner It is recommended to use the international criteria for Behçet's disease and, treatment is aimed at attenuating inflammatory exacerbations and preventing relapses to maintain a good quality of life.
Conclusion: Behçet's syndrome is a multisystemic disorder that is probably underdiagnosed due to low prevalence, high diversity in clinical presentation and low diagnostic suspicion among healthcare professionals.
Downloads
References
1. Emmi G, Bettiol A, Hatemi G, Prisco D. Behçet’s syndrome. The Lancet [Internet]. 2024 Mar 16 [cited 2024 Dec 14];403(10431):1093–108. Available from: http://www.thelancet.com/article/ S0140673623026296/fulltext
2. Zouboulis CC, Keitel W. A historical review of early descriptions of Adamantiades-Behçet’s disease. J Invest Dermatol [Internet]. 2002 [cited 2024 Feb 6];119(1):201–5. Available from: https://pubmed.ncbi.nlm.nih.gov/12164950/
3. Akkoç N. Update on the epidemiology, risk factors and disease outcomes of Behçet’s disease. Best Pract Res Clin Rheumatol [Internet]. 2018 Apr 1 [cited 2024 Feb 6];32(2):261–70. Available from: https://pubmed.ncbi.nlm.nih.gov/30527431/
4. Maldini C, Druce K, Basu N, LaValley MP, Mahr A. Exploring the variability in Behçet’s disease prevalence: a meta-analytical approach. Rheumatology (Oxford) [Internet]. 2018 Jan 1 [cited 2024 Feb 6];57(1):185–95. Available from: https://pubmed.ncbi.nlm.nih.gov/28339670/
5. Muñoz SA, Kostianovsky A, Allievi A, Orden AO. Behçet disease in Latin American countries: A systematic literature review of demographic and clinical features, and HLA-B*51 allele frequency. Reumatol Clin. 2023 Aug 1;19(7):386–91.
6. Fernández-Ávila DG, Rincón-Riaño DN, Bernal-Macías S, Dávila JMG, Rosselli D. Prevalence and demographic characteristics of Behcet disease in Colombia: data from the national health registry 2012-2016. Rheumatol Int [Internet]. 2020 Jan 1 [cited 2024 Feb 6];40(1):17–20. Available from: https://pubmed.ncbi.nlm.nih.gov/31659428/
7. Davatchi F, Assaad-Khalil S, Calamia KT, Crook JE, Sadeghi-Abdollahi B, Schirmer M, et al. The International Criteria for Behçet’s Disease (ICBD): a collaborative study of 27 countries on the sensitivity and specificity of the new criteria. J Eur Acad Dermatol Venereol [Internet]. 2014 Mar [cited 2024 Feb 6];28(3):338–47. Available from: https://pubmed.ncbi.nlm.nih.gov/23441863/
8. Calzada-Hernández J. Enfermedad de Behçet. . Protoc diagn ter pediatr. 2020;2:201-212. Sociedad Española de Pediatría [cited 2024 Feb 6];201. Available from: www.aeped.es/protocolos/
9. Jennette JC, Falk RJ, Bacon PA, Basu N, Cid MC, Ferrario F, et al. 2012 revised International Chapel Hill Consensus Conference Nomenclature of Vasculitides. Arthritis Rheum [Internet]. 2013 Jan [cited 2024 Feb 6];65(1):1–11. Available from: https://pubmed.ncbi.nlm.nih.gov/23045170/
10. Saadoun D, Bodaghi B, Cacoub P. Behçet’s Syndrome. Ingelfinger JR, editor. New England Journal of Medicine [Internet]. 2024 Feb 15;390(7):640–51. Available from: http://www.nejm.org/doi/10.1056/NEJMra2305712
11. Yazici H, Seyahi E, Hatemi G, Yazici Y. Behçet syndrome: a contemporary view. Nat Rev Rheumatol [Internet]. 2018 Feb 1 [cited 2024 Feb 6];14(2):107–19. Available from: https://pubmed.ncbi.nlm.nih.gov/29296024/
12. Kaya TI. Genetics of Behçet’s Disease. Patholog Res Int [Internet]. 2012 [cited 2024 Feb 6];2012. Available from: https://pubmed.ncbi.nlm.nih.gov/22013548/
13. Khoshbakht S, Başkurt D, Vural A, Vural S. Behçet’s Disease: A Comprehensive Review on the Role of HLA-B*51, Antigen Presentation, and Inflammatory Cascade. Int J Mol Sci [Internet]. 2023 Nov 1 [cited 2024 Feb 6];24(22). Available from: https://pubmed.ncbi.nlm.nih.gov/38003572/
14. Bamdé CC, Steinmetz E. Behçet’s Disease: a Rare Cause of Abdominal Aortic Aneurysm. Eur J Vasc Endovasc Surg [Internet]. 2024 Jan [cited 2024 Feb 6]; Available from: https://pubmed.ncbi.nlm.nih.gov/38253171/
15. Esatoglu SN, Ozguler Y, Hatemi G. Disease and Treatment-Specific Complications of Behçet Syndrome. Curr Rheumatol Rep [Internet]. 2024 Jan 1 [cited 2024 Feb 6];26(1). Available from: https://pubmed.ncbi.nlm.nih.gov/37995045/
16. Xenitidis T, Henes JC. [An update on Behçet’s syndrome]. Laryngorhinootologie [Internet]. 2024 Feb 8 [cited 2024 Feb 11]; Available from: https://pubmed.ncbi.nlm.nih.gov/38330997/
17. Haskard DO, Ambrose NL. Differential diagnosis and management of Behçet syndrome. Nat Rev Rheumatol [Internet]. 2013 Feb [cited 2024 Feb 6];9(2):79–89. Available from: https://pubmed.ncbi.nlm.nih.gov/23007742/
18. Solis Cartas U, Poalasín Narvaez L, Quintero Chacón G, Muñoz Balbín M, Lay Wuillians M, Solis Cartas E. Características clínico epidemiológicas de la enfermedad de Behçet. Revista Cubana de Reumatología [Internet]. 2016 [cited 2024 Feb 15];18(1):3–10. Available from: http://scielo.sld.cu/scielo.php?script=sci_arttext&pid=S1817-59962016000100002&lng=es&nrm=iso&tlng=es
19. Emmi G, Bettiol A, Silvestri E, Di Scala G, Becatti M, Fiorillo C, et al. Vascular Behçet’s syndrome: an update. Intern Emerg Med [Internet]. 2019 Aug 1 [cited 2024 Dec 14];14(5):645–52. Available from: https://pubmed-ncbi-nlm-nih-gov.consultaremota.upb.edu.co/30499073/
20. Choi SR, Shin A, Ha YJ, Lee YJ, Lee EB, Lee ES, et al. All-cause and cause-specific mortality among patients with Behçet’s disease versus the general population. Br J Dermatol [Internet]. 2024 Feb 6 [cited 2024 Feb 6]; Available from: https://pubmed.ncbi.nlm.nih.gov/38320213/
21. Akbaba TH, Ekici M, Çolpak Aİ, Brown KL, Karadağ Ö, Balci-Peynircioglu B. Behçet’s syndrome: recent advances to aid diagnosis. Clin Exp Med [Internet]. 2023 Dec 1 [cited 2024 Feb 11];23(8):4079–90. Available from: https://pubmed.ncbi.nlm.nih.gov/37897656/
22. Maldini C, Lavalley MP, Cheminant M, de menthon M, Mahr A. Relationships of HLA-B51 or B5 genotype with Behcet’s disease clinical characteristics: systematic review and meta-analyses of observational studies. Rheumatology (Oxford) [Internet]. 2012 May [cited 2024 Feb 6];51(5):887-900. Available from: https://pubmed.ncbi.nlm.nih.gov/22240504/
23. Hatemi G, Christensen R, Bang D, Bodaghi B, Celik AF, Fortune F, et al. 2018 update of the EULAR recommendations for the management of Behçet’s syndrome. Ann Rheum Dis [Internet]. 2018 Jun 1 [cited 2024 Feb 6];77(6):808–18. Available from: https://pubmed.ncbi.nlm.nih.gov/29625968/
24. Kone-Paut I, Barete S, Bodaghi B, Deiva K, Desbois AC, Galeotti C, et al. French recommendations for the management of Behçet’s disease. Orphanet J Rare Dis [Internet]. 2021 Feb 1 [cited 2024 Feb 11];16(1):1–28. Available from: https://link.springer.com/articles/10.1186/s13023-020-01620-4
25. Ozguler Y, Leccese P, Christensen R, Esatoglu SN, Bang D, Bodaghi B, et al. Management of major organ involvement of Behçet’s syndrome: a systematic review for update of the EULAR recommendations. Rheumatology [Internet]. 2018 Dec 1 [cited 2024 Feb 11];57(12):2200–12. Available from: https://dx.doi.org/10.1093/rheumatology/key242
26. David E, Fauvernier M, Saadoun D, Gerfaud-Valentin M, Maurcort-Boulch D, Sève P, et al. Mortality associated with Behçet’s disease in France assessed by multiple-cause-of-death analysis. Clin Rheumatol [Internet]. 2022 Jun 1 [cited 2024 Feb 6];41(6):1749–58. Available from: https://link.springer.com/article/10.1007/s10067-021-06027-5
27. Kabul EG, Yenil S, Ulutas F, Calik BB, Cobankara V. Investigation of Biopsychosocial Status, Fatigue, Sleep Quality, Alexithymia, Cognitive Functions, and Quality of Life in Behçet’s Disease. Mediterr J Rheumatol [Internet]. 2023 Dec [cited 2024 Feb 6];34(4):436–42. Available from: https://pubmed.ncbi.nlm.nih.gov/38282923/
Downloads
Published
Issue
Section
License
Copyright (c) 2025 Biociencias
This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License.
