E003 An atypical case of relapsing polychondritis with severe bronchial stenosis

Abstract Background/Aims A 17-year-old female attended the Respiratory outpatient department at Salisbury District Hospital (SDH) in June 2024 from general practice (GP) with an 18-month history of progressive dyspnoea, stridor and chest pain. Past medical history includes autism spectrum disorder, EDS, hypermobility, scoliosis, FND and POTS; she is wheelchair bound. Later history revealed episodes of costochondritis when younger and two episodes of unilateral auricular chondritis. During spirometry in clinic, which was severely abnormal, her breathing acutely deteriorated, requiring admission to ICU for HFNO. Recent CT scan revealed severe narrowing of distal trachea and left main bronchus. Initial treatment with IV MTP was given with little response, and the patient was transferred to a specialist centre for balloon dilatation and biopsy, which showed granulation tissue formation mixed with chronic inflammation and fibrosis. Autoimmune, CTD, vasculitis and genetic EDS screens were negative. PET CT showed concentrically thickened thoracic trachea and central airways with mild diffuse avidity. Respiratory, ENT and Rheumatology expert opinion was sought, and a working diagnosis of relapsing polychondritis made. Following regional MDT discussion, CYC was given, followed by AZA, MTX and RTX. There was minimal response to CYC. AZA was stopped due to low TPMT and MTX initially ceased due to oesophagitis dessicans. RTX has been continued alongside low-dose prednisolone and retrial of MTX. The patient has also undergone five balloon dilatations with topical injection of steroids into the bronchus. Bronchoscopies showed ongoing local inflammation with stenosis. Although immunosuppressive treatment so far has seemed insufficient to control her inflammatory disease, she has not had further acute episodes requiring hospitalisation as yet. As a result of oesophagitis dessicans and hypermobility, she is now NJ fed with involvement from the Gastroenterology team. Methods Relapsing polychondritis (RP) is a rare multisystem autoinflammatory disorder involving cartilaginous structures of the body, diagnosed clinically on the presence of auricular, nasal and respiratory tract chondritis, non-erosive seronegative polyarthritis, ocular inflammation, and audiovestibular damage. Laryngotracheal involvement accounts for 23% of disease presentation. The diagnosis was made based on expert opinion and supportive biopsy results. Alternative causes (structural, genetic, infection, local chemical damage, allergy and trauma) have been considered less likely. Results Immunosuppressive treatment is currently based upon case studies and expert opinion in the absence of high-powered clinical studies. Other treatments trialled elsewhere have included ciclosporin, anti-TNF and tocilizumab. Further research in this area is needed. Conclusion In conclusion, RP remains a challenging diagnosis to make, with potentially life-threatening consequences, such as in this case. This patient’s diagnosis was delayed despite her multiple attendances, perhaps biased by her background medical history. Definitive treatment eludes us at present, and ongoing involvement of specialist teams and expert MDT is crucial. Disclosure A. Sanjaya: None. B. Jones: None. H. Woodland: None. A. Barton: None. S. Bartram: None.