Subscribe to RSS
Download PDF
DOI: 10.1055/a-2230-1521
Relapsing Polychondritis with Tracheobronchial Involvement: A Detailed Description of Two Pediatric Cases and Review of the Literature
Relapsing Poychondritis mit Beteiligung der Atemwege: Eine detaillierte Beschreibung von zwei pädiatrischen Fällen und Literaturübersicht
Abstract
Relapsing polychondritis (RP) is a rare immune-mediated disease that primarily affects the cartilaginous structures of the ears, nose and airways. The clinical spectrum ranges from mild to severe disease characterized by progressive destruction of cartilage in the tracheobronchial tree leading to airway obstruction and acute respiratory failure. Early diagnosis is crucial to prevent irreversible airway damage and life-threatening complications. Due to its rarity and variability of symptoms, the diagnosis of RP is often delayed particularly in childhood. To address this and increase awareness of this rare disease, we present a detailed case report of two adolescent females affected by RP. We aim to describe the clinical findings, consequences of a delayed diagnosis and provide a review of the current literature.
Zusammenfassung
Die rezidivierende Polychondritis (RP) ist eine seltene immunvermittelte Erkrankung, die in erster Linie den Knorpel der Ohren, der Nase und der unteren Atemwege betrifft. Das klinische Spektrum reicht von leichten Symptomen mit rezidivierenden Entzündungen an Ohren und/oder Nase bis hin zu schweren Verlaufsformen mit fortschreitender laryngotracheobronchialer Knorpeldestruktion. Letzteres kann unbehandelt zu einer lebensbedrohlichen und irreversiblen Atemwegsobstruktion führen. Eine frühzeitige Diagnose ist unerlässlich, um die Betroffenen vor schweren Komplikationen zu bewahren. Aufgrund der Seltenheit und der Variabilität der Symptome wird die Diagnose RP häufig verzögert- oder gar nicht gestellt, insbesondere im Kindesalter. Um das Bewusstsein für diese potentiell lebensbedrohliche Erkrankung zu schärfen, die typischen klinischen Befunde zu veranschaulichen und die fatalen Folgen einer verzögerten Diagnose aufzuzeigen, beschreiben wir den Krankheitsverlauf von zwei betroffenen weiblichen Jugendlichen und geben eine Übersicht über das Krankheitsbild anhand der aktuellen Literatur.
* These authors contributed equally
Publication History
Article published online:
15 January 2024
© 2024. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial-License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/).
Georg Thieme Verlag
Rüdigerstraße 14, 70469 Stuttgart,
Germany
-
References
- 1 Damiani JM, Levine HL. Relapsing polychondritis-report of ten cases. Laryngoscope 1979; 89: 929-946
- 2 McAdam LP, O'Hanlan MA, Bluestone R. et al. Relapsing polychondritis: prospective study of 23 patients and a review of the literature. Medicine (Baltimore) 1976; 55: 193-215
- 3 Kothari T, Valsamakis T, Sridhar AV. et al. Case of paediatric relapsing polychondritis with severe airway involvement: the challenges of long-term airway and respiratory management. BMJ Case Rep 2021; 14: e239774
- 4 Buckner JH, Van Landeghen M, Kwok WW. et al. Identification of type II collagen peptide 261-273-specific T cell clones in a patient with relapsing polychondritis. Arthritis Rheum 2002; 46: 238-244
- 5 Rajapakse DA, Bywaters EG. Cell-mediated immunity to cartilage proteoglycan in relapsing polychondritis. Clin Exp Immunol 1974; 16: 497-502
- 6 Foidart JM, Abe S, Martin GR. et al. Antibodies to type II collagen in relapsing polychondritis. N Engl J Med 1978; 299: 1203-1207
- 7 Hansson A, Holmdahl R. Cartilage-specific autoimmunity in animal models and clinical aspects in patients – focus on relapsing polychondritis. Arthritis Res 2002; 4: 296-301
- 8 Hansson A, Johannesson M, Svensson L. et al. Relapsing polychondritis, induced in mice with matrilin 1, is an antibody- and complement-dependent disease. Am J Pathol 2004; 164: 959-966
- 9 Hansson AS, Heinegard D, Piette JC. et al. The occurrence of autoantibodies to matrilin 1 reflects a tissue-specific response to cartilage of the respiratory tract in patients with relapsing polychondritis. Arthritis Rheum 2001; 44: 2402-2412
- 10 Hansson A, Johansson ACM, Holmdahl R. Critical role of the major histocompatibility complex and IL-10 in matrilin-1-induced relapsing polychondritis in mice. Arthritis Res Ther 2004; 6: 484
- 11 Lang B, Rothenfusser A, Lanchbury JS. et al. Susceptibility to relapsing polychondritis is associated with HLA-DR4. Arthritis Rheum 1993; 36: 660-664
- 12 Trentham DE, Le CH. Relapsing polychondritis. Ann Intern Med 1998; 129: 114-122
- 13 Alqanatish JT, Alshanwani JR. Relapsing polychondritis in children: A review. Mod Rheumatol 2020; 30: 788-798
- 14 Rafeq S, Trentham D, Ernst A. Pulmonary manifestations of relapsing polychondritis. Clin Chest Med 2010; 31: 513-518
- 15 Ernst A, Rafeq S, Boiselle P. et al. Relapsing polychondritis and airway involvement. Chest 2009; 135: 1024-1030
- 16 Mathew SD, Battafarano DF, Morris MJ. Relapsing polychondritis in the Department of Defense population and review of the literature. Semin Arthritis Rheum 2012; 42: 70-83
- 17 Kent PD, Michet CJJ, Luthra HS. Relapsing polychondritis. Curr Opin Rheumatol 2004; 16: 56-61
- 18 Letko E, Zafirakis P, Baltatzis S. et al. Relapsing polychondritis: a clinical review. Semin Arthritis Rheum 2002; 31: 384-395
- 19 Hazra N, Dregan A, Charlton J. et al. Incidence and mortality of relapsing polychondritis in the UK: a population-based cohort study. Rheumatology (Oxford) 2015; 54: 2181-2187
- 20 Bachor E, Blevins NH, Karmody C. et al. Otologic manifestations of relapsing polychondritis. Review of literature and report of nine cases. Auris Nasus Larynx 2006; 33: 135-141
- 21 Yang H, Peng L, Jian M. et al. Clinical analysis of 15 patients with relapsing auricular polychondritis. Eur Arch Otorhinolaryngol 2014; 271: 473-476
- 22 Smylie A, Malhotra N, Brassard A. Relapsing Polychondritis: A Review and Guide for the Dermatologist. Am J Clin Dermatol 2017; 18: 77-86
- 23 Lahmer T, Treiber M, von Werder A. et al. Relapsing polychondritis: An autoimmune disease with many faces. Autoimmun Rev 2010; 9: 540-546
- 24 Molina JF, Espinoza LR. Relapsing polychondritis. Baillieres Best Pract Res Clin Rheumatol 2000; 14: 97-109
- 25 Molina JF, Espinoza LR. Relapsing polychondritis. Baillieres Best Pract Res Clin Rheumatol 2000; 14: 97-109
- 26 Lin D, Yang W, Zhang P. et al. Clinical and prognostic characteristics of 158 cases of relapsing polychondritis in China and review of the literature. Rheumatol Int 2016; 36: 1003-1009
- 27 Yu EN, Jurkunas U, Rubin PAD. et al. Obliterative microangiopathy presenting as chronic conjunctivitis in a patient with relapsing polychondritis. Cornea 2006; 25: 621-622
- 28 Isaak BL, Liesegang TJ, Michet CJJ. Ocular and systemic findings in relapsing polychondritis. Ophthalmology 1986; 93: 681-689
- 29 Puechal X, Terrier B, Mouthon L. et al. Relapsing polychondritis. Joint Bone Spine 2014; 81: 118-124
- 30 Kingdon J, Roscamp J, Sangle S. et al. Relapsing polychondritis: a clinical review for rheumatologists. Rheumatology (Oxford) 2018; 57: 1525-1532
- 31 Tomelleri A, Campochiaro C, Sartorelli S. et al. Large-vessel Vasculitis Affecting the Aorta and its Branches in Relapsing Polychondritis: Case Series and Systematic Review of the Literature. J Rheumatol 2020; 47: 1780-1784
- 32 Bahena-Lopez E, Loya-Centurion J. Relapsing polychondritis, a rare cause of valvulopathy: A review of the medical literature. Arch Cardiol Mex 2020; 90: 173-176
- 33 Erdogan M, Esatoglu SN, Hatemi G. et al. Aortic involvement in relapsing polychondritis: case-based review. Rheumatol Int 2021; 41: 827-837
- 34 Firestein GS, Gruber HE, Weisman MH. et al. Mouth and genital ulcers with inflamed cartilage: MAGIC syndrome. Five patients with features of relapsing polychondritis and Behcet’s disease. Am J Med 1985; 79: 65-72
- 35 Jeon CH. Relapsing Polychondritis with Central Nervous System Involvement: Experience of Three Different Cases in a Single Center. J Korean Med Sci 2016; 31: 1846-1850
- 36 Lee KS, Ernst A, Trentham DE. et al. Relapsing polychondritis: prevalence of expiratory CT airway abnormalities. Radiology 2006; 240: 565-573
- 37 Arnaud L, Costedoat-Chalumeau N, Mathian A. et al. French practical guidelines for the diagnosis and management of relapsing polychondritis. Rev Med Interne 2023; 44: 282-294
- 38 Belot A, Duquesne A, Job-Deslandre C. et al. Pediatric-onset relapsing polychondritis: case series and systematic review. J Pediatr 2010; 156: 484-489
- 39 Michet CJJ, McKenna CH, Luthra HS. et al. Relapsing polychondritis. Survival and predictive role of early disease manifestations. Ann Intern Med 1986; 104: 74-78
- 40 Yoshida T, Yoshifuji H, Shirakashi M. et al. Risk factors for the recurrence of relapsing polychondritis. Arthritis Res Ther 2022; 24: 127
- 41 Petitdemange A, Sztejkowski C, Damian L. et al. Treatment of relapsing polychondritis: a systematic review. Clin Exp Rheumatol 2022; 40: 81-85
- 42 Giroux L, Paquin F, Guerard-Desjardins MJ. et al. Relapsing polychondritis: an autoimmune disease. Semin Arthritis Rheum 1983; 13: 182-187
- 43 Foidart JM, Abe S, Martin GR. et al. Antibodies to type II collagen in relapsing polychondritis. N Engl J Med 1978; 299: 1203-1207
- 44 Terato K, Shimozuru Y, Katayama K. et al. Specificity of antibodies to type II collagen in rheumatoid arthritis. Arthritis Rheum 1990; 33: 1493-1500
- 45 Heman-Ackah YD, Remley KB, Goding GSJ. A new role for magnetic resonance imaging in the diagnosis of laryngeal relapsing polychondritis. Head Neck 1999; 21: 484-489
- 46 Deng H, Chen P, Wang L. et al. Relapsing polychondritis on PET/CT. Clin Nucl Med 2012; 37: 712-715
- 47 Yamashita H, Takahashi H, Kubota K. et al. Utility of fluorodeoxyglucose positron emission tomography/computed tomography for early diagnosis and evaluation of disease activity of relapsing polychondritis: a case series and literature review. Rheumatology (Oxford) 2014; 53: 1482-1490
- 48 Gergely PJ, Poor G. Relapsing polychondritis. Best Pract Res Clin Rheumatol 2004; 18: 723-738
- 49 Daikeler T, Kotter I, Bocelli Tyndall C. et al. Haematopoietic stem cell transplantation for vasculitis including Behcet’s disease and polychondritis: a retrospective analysis of patients recorded in the European Bone Marrow Transplantation and European League Against Rheumatism databases and a review of the literature. Ann Rheum Dis 2007; 66: 202-207
- 50 Veldkamp SR, Jansen MHA, Swart JF. et al. Case Report: Lessons Learned From Subsequent Autologous and Allogeneic Hematopoietic Stem Cell Transplantations in a Pediatric Patient With Relapsing Polychondritis. Front Immunol 2022; 13: 812927
- 51 Zhou P, Fu B, Zhang C. et al. Bronchoscopy-Guided Intervention Therapy With Extracorporeal Membrane Oxygenation Support for Relapsing Polychondritis With Severe Tracheobronchomalacia: A Case Report and Literature Review. Front Med (Lausanne) 2021; 8: 695505
- 52 Haug MD, Witt P, Kalbermatten FD. et al. Severe respiratory dysfunction in a patient with relapsing polychondritis: should we treat the saddle nose deformity?. J Plast Reconstr Aesthet Surg 2009; 62: 7
- 53 Bell D, Wright D, Witt PD. Durability of nasal reconstruction in an adolescent with relapsing polychondritis treated with infliximab. Plast Reconstr Surg 2007; 120: 1087-1088
- 54 Dion J, Costedoat-Chalumeau N, Sene 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: 2992-3001