Nadir Bir Hastalık Olan Tekrarlayan Polikondrit İle Takip Ettiğimiz Hastalarımızın Klinik Özellikleri: Tek Merkez Deneyimi

Abstract

Tekrarlayan polikondrit (TP), özellikle kulaklar, burun, gözler, eklemler ve solunum yolu olmak üzere vücuttaki kıkırdaklı yapıları ve diğer dokuları etkileyen, immun aracılı, sistemik inflamatuar, dejeneratif bir hastalıktır. TP'nin hedef dokuları sadece kıkırdak içeren yapılar olmayıp, deri, böbrek, kalp ve merkezi sinir sistemi gibi kıkırdak içermeyen yapılar da etkilenir. Nadir bir hastalık olması nedenli epidemiyolojisi konusunda veriler yetersizdir. Sıklıkla 40-60 yaşları arasında görülür. Erkekler ve kadınlar eşit olarak etkilenir. Klinik özellikleri hastalar arasında değişkenlik göstermektedir. Hastalığın nadir görülmesi ve geniş klinik yelpazesi sıklıkla yanlış tanıya veya tanıda gecikmeye yol açar. TP'nin erken teşhisi ve hızlı tedavisi, ilişkili komplikasyonları ve ölümü önlemek, prognozu iyileştirmek için kritik öneme sahiptir. Tedavi seçenekleri arasında glukokortikoidler, dapson, hastalık modifiye edici antiromatizmal ilaçlar (DMARDs) ve biyolojik ajanlar yer alır. Prognoz, organ hasarının ciddiyetine bağlı olarak klinik tablo kadar heterojendir. TP tanısı ile izlediğimiz 10 hastanın ortalama hastalık başlama yaşı 49,5±4,1 idi. Semptom başlangıcı ile tanı arası süre ortanca 3 aydı (2-60). Hastaların %80’i erkekti. En sık rastlanan klinik bulgu aurikuler kondritti (%100). Hastaların tümü tedavileri sırasında en az bir kez oral prednizolon aldı. İki hastaya intravenöz metilprednizolon uygulandı. Bir hastada DMARDs yanıtsız olması nedenli infliksimaba geçildi. Bir hasta pnömosepsis nedenli kaybedildi. Bu yazıda, TP'nin patogenezi, klinik seyri, teşhisi ve tedavisi ile ilgili mevcut bilgilere genel bir bakış sunarak nadir görülen ancak pek çok sistemi etkileyebilen bu hastalıkla ilgili hekimler arasındaki farkındalığı artırmayı amaçladık.

Keywords

• İnflamasyon
• Kıkırdak
• Nadir
• Relapsing polikondrit
• Sistemik

Clinical Characteristics of Our Follow-Up Patients with the Rare Disease Relapsing Polychondritis: A Single-Center Study

Abstract

Relapsing polychondritis (RP) is an immune-mediated, systemic inflammatory and degenerative disease that affects cartilaginous structures particularly the ears, nose, eyes, joints, and respiratory tract and other tissues in the body. RP targets non-cartilaginous structures such as skin, kidney, heart, and the central nervous system in addition to cartilage-containing structures. Since it is a rare disease, data on its epidemiology are insufficient. It is prevalent between the ages of 40 and 60. Men and women are affected equally. Clinical characteristics vary among patients. The disease's rarity and broad clinical spectrum frequently result in misdiagnosis or delayed diagnosis. To prevent related complications and death, and to improve prognosis, early diagnosis and timely treatment of RP are crucial. Glucocorticoids, dapsone, disease-modifying antirheumatic drugs (DMARDs), and biologics are available as treatment options. The prognosis, such as the clinical presentation, varies depending on the extent of organ damage. 10 patients with RP had a mean onset age of 49.5±4.1. The median time between symptom onset and diagnosis was 3 months (2-60). 80% of the patients were male. The most frequent clinical manifestation is auricular chondritis (100%). During treatment, oral prednisolone was administered to all patients at least once. Intravenous methylprednisolone was administered to two patients. Due to ineffectiveness of DMARDs, one patient was switched to infliximab. A patient died due to pneumosepsis. This article aims to increase clinicians' awareness of this rare disease that can affect multiple systems by providing an overview of its pathogenesis, clinical course, diagnosis, and treatment.

Keywords

• Inflammation
• cartilage
• rare
• relapsing polychondritis
• systemic

References

1. 1. Lahmer T, Treiber M, von Werder A, et al. Relapsing polychondritis: An autoimmune disease with many faces. Autoimmun Rev. 2010;9(8):540-546.
2. 2. Danve A. Thoracic Manifestations of Ankylosing Spondylitis, Inflammatory Bowel Disease, and Relapsing Polychondritis. Clin Chest Med. 2019;40(3):599-608.
3. 3. Hazra N, Dregan A, Charlton J, Gulliford MC, D’Cruz DP. Incidence and mortality of relapsing polychondritis in the UK: a population-based cohort study. Rheumatology. July 2015: kev240.
4. 4. Mathian A, Miyara M, Cohen-Aubart F, et al. Relapsing polychondritis: A 2016 update on clinical features, diagnostic tools, treatment and biological drug use. Best Pract Res Clin Rheumatol. 2016;30(2):316-333.
5. 5. Letko E, Zafirakis P, Baltatzis S, et al. Relapsing polychondritis: a clinical review. Semin Arthritis Rheum. 2002;31(6):384-395.
6. 6. Schumacher S, Pieringer H. Relapsing polychondritis: a chameleon among orphan diseases. Wiener Medizinische Wochenschrift. 2017;167(9-10):227-233.
7. 7. Jane Hoyt Buckner M. Clinical manifestations of relapsing polychondritis. UpToDate. https://www.uptodate.com/contents/clinical-manifestations-of-relapsingpolychondritis? Published 2022. Accessed May 4, 2022.
8. 8. Kent PD, Michet, CJ, Luthra HS. Relapsing polychondritis. Curr Opin Rheumatol. 2004;16(1):56-61.

9. 9. Francès C, el Rassi R, Laporte JL, et al. Dermatologic manifestations of relapsing polychondritis. A study of 200 cases at a single center. Medicine (Baltimore). 2001;80(3):173-179.
10. 10. Ferrada MA, Sikora KA, Luo Y, et al. Somatic Mutations in UBA1 Define a Distinct Subset of Relapsing Polychondritis Patients With VEXAS. Arthritis Rheumatol. 2021;73(10):1886-1895.
11. 11.Vitale A, Sota J, Rigante D, et al. Relapsing Polychondritis: an Update on Pathogenesis, Clinical Features, Diagnostic Tools,and Therapeutic Perspectives. Curr Rheumatol Rep. 2016;18(1):3.
12. 12.Fukuda K, Mizobuchi T, Nakajima I, et al. Ocular Involvement in Relapsing Polychondritis. J Clin Med. 2021;10(21):4970.
13. 13.Dion J, Costedoat-Chalumeau N, Sène D, et al. Relapsing Polychondritis Can Be Characterized by Three Different Clinical Phenotypes: Analysis of a Recent Series of 142 Patients. Arthritis Rheumatol. 2016;68(12):2992-3001.
14. 14.McAdam LP, O’Hanlan MA, Bluestone R, Pearson CM. Relapsing polychondritis: prospective study of 23 patients and a review of the literature. Medicine (Baltimore). 1976;55(3):193-215.
15. 15.Damiani JM, Levine HL. Relapsing polychondritis--report of ten cases. Laryngoscope. 1979;89(6 Pt 1):929-946. http://www.ncbi.nlm.nih.gov/pubmed/449538.
16. 16.Michet CJ, McKenna CH, Luthra HS, O’Fallon WM. Relapsing polychondritis. Survival and predictive role of early disease manifestations. Ann Intern Med. 1986;104(1):74-78.
17. 17.Chuah T, Lui N. Relapsing polychondritis in Singapore: a case series and review of literature. Singapore Med J. 2017;58(4):201-205.
18. 18.Isaak BL, Liesegang TJ, Michet CJ. Ocular and SystemicFindings in Relapsing Polychondritis. Ophthalmology.1986;93(5):681-689.
19. 19.Sainz-de-la-Maza M, Molina N, Gonzalez-Gonzalez LA, et al.Scleritis associated with relapsing polychondritis. Br JOphthalmol. 2016;100(9):1290-1294.
20. 20.Zeuner M, Straub RH, Rauh G, et al. Relapsing polychondritis: clinical and immunogenetic analysis of 62 patients. J Rheumatol. 1997; 24:96–101.
21. 21. JC Piette, R El-Rassi, Z Amoura. Antinuclear antibodies in relapsing polychondritis. Ann Rheum Dis.1999Oct;58(10):656-7.
22. 22.Jane Hoyt Buckner M. Pathology of relapsing polychondritis. UpToDate. https://www.uptodate.com/contents/pathology-of-relapsing-polychondritis? Published 2022. Accessed June 1, 2022.
23. 23.Curry JT, Wingard MT. Relapsing polychondritis: aninflammatory disorder not to be missed. Clin Exp Optom. 2021;104(5):656-657.
24. 24.Okamoto T, Okada M, Mori A, et al. Correlation between immunological abnormalities and prognosis in myelodysplastic syndrome patients. Int J Hematol. 1997;66(3):345-351.
25. 25.Mekinian A, Grignano E, Braun T, et al. Systemic inflammatory and autoimmune manifestations associated with myelodysplastic syndromes and chronic myelomonocytic leukaemia: a French multicentre retrospective study. Rheumatology. 2016;55(2):291-300.
26. 26.Erden A, Bilgin E, Kılıç L, et al. Remission of relapsingpolychondritis after successful treatment of myelodysplastic syndrome with azacitidine: a case and review of the literature. Drug Metab Pers Ther. 2018;33(2):105-108.
27. 27.Ernst A, Rafeq S, Boiselle P, et al. Relapsing Polychondritis and Airway Involvement. Chest. 2009;135(4):1024-1030.
28. 28.Sarodia BD, Dasgupta A, Mehta AC. Management of Airway Manifestations of Relapsing Polychondritis. Chest. 1999;116(6):1669-1675.
29. 29.Suzuki S, Ikegami A, Hirota Y, Ikusaka M. Fever and cough without pulmonary abnormalities on CT: relapsing polychondritis restricted to the airways. Lancet. 2015;385(9962):88.
30. 30.Mpofu S. Treatment of respiratory complications in recalcitrant relapsing polychondritis with infliximab. Rheumatology.2003;42(9):1117-1118.
31. 31.Xie C, Shah N, Shah PL, Sandhu G. Laryngotracheal reconstruction for relapsing polychondritis: case report andreview of the literature. J Laryngol Otol. 2013;127(9):932-935.
32. 32.Sato R, Ohshima N, Masuda K, et al. A Patient with Relapsing Polychondritis who Had Been Diagnosed as Intractable Bronchial Asthma. Intern Med. 2012;51(13):1773-1778.
33. 33.Sheikh A, Rodgers R. Fulminant orbital inflammatory syndrome in a patient with relapsing polychondritis: case reportand review of the literature. Orbit. 2021;40(3):252-254.
34. 34.Kingdon J, Roscamp J, Sangle S, D’Cruz D. Relapsing polychondritis: a clinical review for rheumatologists. Rheumatology. 2018;57.