Case Presentation: A 77-year-old male patient presented with a one-month duration of low-grade fever, dry cough, and dyspnea. In his fifties, he received a diagnosis of bronchial asthma. He has no history of smoking. The patient reported orthopnea and was unable to articulate complete sentences. Auscultation of the chest revealed bilateral wheezing during both inspiration and expiration. Ophthalmologic and auricular examinations yielded unremarkable findings. Laboratory tests indicated an elevated inflammatory response, with a white blood cell count of 10,000/μL and a C-reactive protein level of 15.6 mg/dL. Renal and hepatic function, as well as autoimmune antibodies including antinuclear antibodies and antineutrophil cytoplasmic antibodies, were within normal limits. Chest computed tomography revealed smooth thickening of the cartilaginous portions of the trachea while sparing the posterior membranous portion. During fiberoptic bronchoscopy performed under SpO2 monitoring and oxygenation, cobble-stone appearance; severe erythema, and edematous changes were noted in the trachea and bilateral main bronchial lumens, excluding the membranous portion, resulting in narrowed luminal space. Nasopharyngeal examination also revealed thickening of the bilateral caudal pterygoid cartilages and stenosis of the anterior nostrils. These findings indicated a diagnosis of relapsing polychondritis (RP). The patient was urgently admitted to our hospital, and a three-day course of methylprednisolone at a dosage of 1000 mg per day was administered. As a result, his dyspnea rapidly improved, but on the fifth day, the patient experienced symptom flare-up following a reduction in the prednisolone dosage to 60 mg per day. Consequently, an additional dose of 60 mg per day of tocilizumab was initiated and the patient’s symptoms completely improved. On the 46th day, a second bronchoscopy revealed markedly improvement of stenosis and edema of airway.
Discussion: RP is a rare autoimmune disease characterized by episodic and progressive cartilaginous inflammation. Airway involvement manifests in up to 50% of RP patients during their illness. A prolonged period without diagnosis culminates in life-threatening tracheomalacia, characterized by irreversible changes, underscoring the significance of early diagnosis. Nonetheless, the absence of typical auricular or nasal involvement renders early RP identification a challenging endeavor due to its non-specific symptoms and a disease course marked by recurrent remissions and flare-ups. The average time from onset to diagnosis has been reported to be 2.9 years, and about one-third of patients are reported to have visited more than five doctors before diagnosis.Bronchoscopy serves not only to differentiate RP from other condition including malignancy or granulomatosis polyangiitis, but also as an instrument for monitoring disease progression. Our case of bronchoscope findings indicated acute stage of RP, and cobble-stone-appearance like our case represents a rare discovery in RP cases.
Conclusions: We have detailed the case of RP presenting with cobble-stone appearance of tracheal mucosa successfully treated with a combination of glucocorticoids and tocilizumab. Timely consultation with a rheumatologist and the prompt recognition and treatment of RP are imperative for achieving a better prognosis and preventing the onset of irreversible bronchomalacia.