Doenças autoinflamatórias em adultos: abordagem prática ao diagnóstico baseada em um caso clínico
Autoinflammatory diseases in adults: practical approaches to diagnosis based on a clinical case
Leonardo Oliveira Mendonça; Ricardo Krieger Azzolini; Andre Franco Silva; Jorge Kalil; Alessandra Pontillo; Fabio Morato Castro; Myrthes Toledo Barros
Resumo
As doenças autoinflamatórias são doenças inflamatórias raras cujo cerne imunológico baseia-se na imunidade inata. A maioria das doenças autoinflamatórias tem início na idade pediátrica, mas pouco se sabe sobre as doenças que se iniciam na vida adulta. O diagnóstico é feito por exclusão, e, quando possível, com auxílio de técnicas moleculares. Este artigo tem como objetivo relatar um caso de doença autoinflamatória de início na vida adulta e a partir dele estabelecer fluxograma de auxílio ao diagnóstico.
Palavras-chave
Abstract
Autoinflammatory diseases are rare inflammatory conditions whose immunopathology relies essentially on innate immunity. The majority of autoinflammatory diseases have their onset in childhood, but little is known about diseases that initiate in adulthood. Diagnosis is made by exclusion and with the aid of molecular techniques whenever possible. This article describes a case of autoinflammatory disease that started in adulthood, and aims to propose a flowchart to aid in the diagnosis of these conditions.
Keywords
Referências
1. Doria A, Dayer JM, Punzi L. Autoinflammatory diseases: How to put the fire inside the body out? Autoimmun Rev. 2012;12(1):1‑4.2. Galeazzi M, Gasbarrini G, Ghirardello A, Grandemange S, Hoffman
2. Galeazzi M, Gasbarrini G, Ghirardello A, Grandemange S, Hoffman HM, Manna R, et al. Autoinflammatory syndromes. Clin Exp Rheumatol [Internet]. 2006;24(1 Suppl 40):S79‑85. Available from:http://www.ncbi.nlm.nih.gov/pubmed/16466630 .
3. Aksentijevich I, Centola M, Deng Z, Sood R, Balow JE, Wood G, et al. Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. Cell. 1997;90(4):797‑807.
4. Sohar E, Gafni J, Pras M, Heller H. Familial Mediterranean fever. Am J Med [Internet]. 1967;43(2):227-53. Available from: http://www. sciencedirect.com/science/article/pii/0002934367901672 .
5. Fujikura K. Global epidemiology of Familial Mediterranean fever mutations using population exome sequences. Mol Genet Genomic Med [Internet]. 2015;3(4):272-82. Available from: http://doi.wiley. com/10.1002/mgg3.140 .
6. Berkun Y, Ben-Chetrit E. Pyrin and cryopyrin - similar domain sequence but opposite inflammatory consequence. Clin Exp Rheumatol [Internet]. Jan [cited 2016 Feb 14];25(4 Suppl 45):S6‑8. Available from: http://www.ncbi.nlm.nih.gov/pubmed/17949543 .
7. Padeh S, Berkun Y. Auto-inflammatory Fever Syndromes. Rheum Dis Clin North Am. 2007;33(3):585‑623.
8. Balbo BEP, Silva AA, Amaral AG, Malheiros DMAC, Onuchic LF, Barros RT. Abdominal pain, arthritis, and nephrotic syndrome in a Syrian patient. Clinics (Sao Paulo). 2012;67(6):685‑8.
9. Cazeneuve C, Sarkisian T, Pêcheux C, Dervichian M, Nédelec B, Reinert P, et al. MEFV-Gene analysis in armenian patients with Familial Mediterranean fever: diagnostic value and unfavorable renal prognosis of the M694V homozygous genotype-genetic and therapeutic implications. Am J Hum Genet [Internet]. 1999 Jul [cited 2016 Feb 14];65(1):88-97. Available from: http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1378078&tool=p mcentrez&rendertype=abstract .
10. Jesus AA, Oliveira JB, Hilário MOE, Terreri MTR, Fujihira E, Watase M, et al. Pediatric hereditary autoinflammatory syndromes. J Pediatr (Rio J). 2015;86(5):353‑66.
11. Ozen S, Bilginer Y. A clinical guide to autoinflammatory diseases: familial Mediterranean fever and next-of-kin. Nat Rev Rheumatol [Internet]. Nature Publishing Group; 2014;10(3):135-47. Available from: http://www.ncbi.nlm.nih.gov/pubmed/24247370 .
12. Berkun Y, Eisenstein EM. Diagnostic criteria of familial Mediterranean fever. Autoimmun Rev [Internet]. Elsevier B.V.; 2014;13(4-5):388-90. Available from: http://dx.doi.org/10.1016/j.autrev.2014.01.045 .
13. Cantarini L, Lopalco G, Selmi C, Napodano S, De Rosa G, Caso F, et al. Autoimmunity and autoinflammation as the yin and yang of idiopathic recurrent acute pericarditis. Autoimmun Rev [Internet]. Elsevier B.V.; 2015;14(2):90‑7. Available from: http://dx.doi.org/10.1016/j.autrev.2014.10.005 .
14. Dal Pont E, D’Incà R, Caruso A, Sturniolo G-C. Non-invasive investigation in patients with inflammatory joint disease. World J Gastroenterol [Internet]. 2009;15(20):2463. Available from: http://www.wjgnet.com/1007-9327/15/2463.asp .
15. Braun-Falco M, Ruzicka T. Hautbeteiligung bei autoinflammatorischen syndromen. JDDG - J Ger Soc Dermatology. 2011;9(3):232‑46.
16. Cantarini L, Rigante D, Brizi MG, Sebastiani GD, Lucherini OM, Galeazzi M, et al. The laboratory approach in the diagnosis of systemic autoinflammatory diseases. Reumatismo. 2011;63(2):101‑10.
17. Chrapko BE, Chrapko M, Nocu A, Stefaniak B, Zubilewicz T, Drop A. Role of 18F-FDG PET/CT in the diagnosis of inflammatory and infectious vascular disease. Nucl Med Rev [Internet]. 2016;19(1):28‑36. Available from: https://journals.viamedica.pl/nuclear_medicine_review/article/view/42253 .
18. Tokmak H, Ergonul O, Demirkol O, Cetiner M, Ferhanoglu B. Diagnostic contribution of 18F-FDG-PET/CT in fever of unknown origin. Int J Infect Dis [Internet]. International Society for Infectious Diseases; 2014;19(1):53‑8. Available from: http://dx.doi.org/10.1016/j.ijid.2013.10.009
19. Hommes DW, Van Deventer SJH. Endoscopy in inflammatory bowel diseases. Gastroenterology. 2004;126(6):1561‑73.
20. Wu B, Xu T, Li Y, Yin X. Interventions for reducing inflammation in familial Mediterranean fever. Cochrane database Syst Rev [Internet]. 2015 Jan [cited 2016 Feb 23];3:CD010893. Available from: http://www.ncbi.nlm.nih.gov/pubmed/25791871 .
21. Giancane G, Ter Haar NM, Wulffraat N, Vastert SJ, Barron K, Hentgen V, et al. Evidence-based recommendations for genetic diagnosis of familial Mediterranean fever. Ann Rheum Dis. 2015 Apr;74(4):635‑41.
Submetido em:
10/01/2017
Aceito em:
15/02/2017
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