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Summary: Nivolumab, a programmed death 1 blockade drug, is used in various types of cancers and can cause a unique immune-related adverse event (irAE). Relapsing polychondritis (RP) is a rare autoimmune disease that mainly involves inflammation of the auricle, nose and airway cartilage. A 72-year-old man with mandibular cancer received nivolumab after surgery for the primary lesion and radiation therapy for lung metastases. He then developed radiation pneumonitis, and prednisolone (PSL) was started. During the tapering of PSL, he developed exertional dyspnea and cough. The condition of mandibular cancer and radiation pneumonitis had not deteriorated. Fluorodeoxyglucose (FDG)-PET/CT showed a thickening of and abnormal FDG uptake in the tracheobronchial and nasal septum cartilage. These characteristic findings were not observed before nivolumab was initiated; thus, we clinically diagnosed the patient as having RP induced by nivolumab. Since the symptoms were mild, the patient's condition was carefully managed with inhaled corticosteroids, and the RP has not progressed thus far. Physicians should be aware that RP can occur as an irAE because RP may progress to serious respiratory symptoms. [ABSTRACT FROM AUTHOR]

OBJECTIVE: The present article aims at describing a rare case of an RP patient who evolved with heart block and was successfully treated with corticoid pulse therapy, without the need for pacemaker insertion. PATIENTS AND METHODS: A systematic research on relapsing polychondritis (RP) and heart block (HB) published in PubMed/MEDLINE, Web of Sciences, LILACS, and Scielo from 1966 to August 2020 was performed. RESULTS: It was found 10 studies on RP associated with HB, and we added a case. Most were male (7/10) with ages 30 to 66 years old. RP disease duration was 1 week-6 years. In most cases (7/10), the RP was active when the HB occurred. A complete HB was observed in 4/7, followed by type II degree block in 3/7, and one patient had a sinus node dysfunction. Most patients received glucocorticoids. A pacemaker was inserted in 4/9 cases. Good outcome was observed in 3/9 patients and mortality in 2/10. CONCLUSIONS: We report the first case of an RP patient who had a heart block and was successfully treated with methylprednisolone pulse therapy. The authors suggest that in these RP cases, an attempt with a glucocorticoid pulse therapy may be offered to treat the heart block and prevent the insertion of a pacemaker. [ABSTRACT FROM AUTHOR]

Background: Relapsing polychondritis (RP) is a rare systemic disease of unknown origin, with cartilaginous involvement in multiple organs. Airway involvement is the most important prognostic factor in RP. Objectives: Spirometric measurements and minimum tracheal cross-sectional area (mtCSA) have been reported as useful to assess the degree of airway stenosis. Because the length and severity of tracheal involvement in RP can vary, mtCSA might not provide enough information to assess tracheal abnormalities. We introduced tracheal volume (TrV) as a new method to evaluate correlations between chest computed tomography (CT) measurements and pulmonary function tests, including impulse oscillometry (IOS). Method: We analyzed chest CT images, spirometry, and IOS collected at our institution from April 2004 to March 2019. We calculated correlations between chest CT measurements using software (TrV, TrV/tracheal length [TrV/TL], and mtCSA) and pulmonary function parameters. Results: Twenty-five of 73 clinically diagnosed patients with RP were included. Spirometric findings showed moderate airway obstruction. Peak flow (PEF) was strongly correlated with mtCSA, TrV, and TrV/TL (ρ = 0.74, p < 0.001). FEV1 was significantly correlated with mtCSA (ρ = 0.56, p = 0.004), TrV (ρ = 0.52, p = 0.007), and TrV/TL (ρ = 0.53, p = 0.006). Whereas respiratory resistance at 5 Hz (R5) and 20 Hz (R20) and resonant frequencies (RFs) were significantly correlated with TrV (ρ = −0.46, p = 0.021; ρ = −0.46, p = 0.046; and ρ = −0.42, p = 0.037, respectively), IOS parameters and mtCSA were not. Conclusions: In patients with RP, TrV and mtCSA were strongly correlated with spirometric measurements. Respiratory resistances assessed by IOS correlated only with TrV. This suggests TrV assessment reflects pulmonary function in patients with RP more appropriately than mtCSA. [ABSTRACT FROM AUTHOR]

Objective: Describe our experience with tocilizumab in the treatment of refractory relapsing polychondritis with ocular involvement.Methods: Retrospective consecutive interventional case series that included all patients that received tocilizumab for the treatment of relapsing polychondritis with ocular manifestations.Results: Three cases were selected and the duration of tocilizumab treatment ranged from 1 to 2 years. One of our patients received tocilizumab as a first-line immunosuppressive treatment directly after prednisone. All achieved complete response to tocilizumab 1 month after treatment initiation. No advert events were reported during the follow-up period except for transient neutropenia without any associated infection.Conclusion: Our three cases suggest that tocilizumab may be an effective and safe treatment for ocular manifestation associated with relapsing polychondritis. [ABSTRACT FROM AUTHOR]

The incidence of post-infectious autoimmune diseases has been on the rise following the COVID-19 pandemic. Recently, an autistic patient was admitted to the hospital presenting with a mild upper respiratory system COVID-19 infection. Months after recovery and polymerase chain reaction negativity, the patient developed HEp-2 cell positivity and presented with relapsing polychondritis (RP), a rare autoimmune disease. The mechanism of this autoimmune invasion is ultimately caused by activating a myriad of immune reactions. Lymphocytopenia almost always accompanies various clinical forms of COVID-19; however, it may drive the lymphocytopenia-induced proliferation of autoreactive T cells via the activation of interleukin-6 (IL-6). Moreover, high levels of neutrophils during infection promote autoimmune disease by releasing cytokine and chemokine cascades that accompany inflammation, and neutrophil extracellular traps regulating immune responses through cell-cell interactions. Furthermore, autism spectrum disorder patients display an altered immune system that includes an augmented inflammatory cytokine milieu leading to an increased pro-inflammatory Th1/Th2 ratio. In addition, the pathophysiology of RP is majorly associated with a cell-mediated immune reaction; thus, the predisposing exaggerated immune system of such patients must also be considered as a predisposing factor to the development of post-infectious autoimmune diseases., Learning Points: COVID-19 infection is a potential trigger for relapsing polychondritis, an autoimmune disease affecting cartilage, and must be considered as a rare post-COVID complication.The hyperactive immune system in autism spectrum disorder (ASD) is an important predisposing factor to the induction of more autoimmune diseases after the occurrence of post-infectious dysregulation.Lymphocytopenia-induced proliferation possibly initiates the post-infection immune dysregulation., Competing Interests: Conflicts of Interests: The Authors declare that there are no competing interests., (© EFIM 2024.)

Objective: To describe the features of large-vessel vasculitis (LVV) as it affects the aorta and its branches in patients with relapsing polychondritis (RP).Methods: Retrospective data and systematic literature review.Results: Twenty-one patients were identified. LVV diagnosis was subsequent to RP and associated with extrachondral involvement in the majority of patients. Supraaortic vessels were more frequently involved (82%). Fourteen patients (67%) were treated with a conventional synthetic disease-modifying antirheumatic drug (csDMARD) and 7 (33%) with a biological DMARD (bDMARD). Vascular interventional procedures were performed in 10 patients (48%). Premature death due to cardiovascular complications was reported in 3 cases (14%).Conclusion: Extraaortic LVV is a serious and overlooked RP manifestation. All patients with RP should be investigated for LVV. [ABSTRACT FROM AUTHOR]

Relapsing polychondritis is a rare autoimmune condition characterized by episodic and progressive cartilaginous inflammation. Its clinical presentation is vastly divergent and can affect various organs. We report the uncommon case of large airway involvement in a patient presenting with shortness of breath on the background of diagnosed relapsing polychondritis. Computed tomography (CT) chest demonstrated thickening of the cartilaginous portions of the trachea and bronchi with sparing of the posterior membranes, consistent with tracheobronchomalacia and repeated cartilaginous destruction. High doses of systemic glucocorticoids, accompanied by continuous positive airway pressure, were required for treatment. We highlight the importance of identifying the extent of airways affected and definitive positive airway pressure support for relapsing polychondritis affecting major airways in addition to conventional therapy of immunosuppression.

Laryngotracheal stenosis (LTS) is a complex and heterogeneous disease whose pathogenesis remains unclear. LTS is considered to be the result of aberrant wound-healing process that leads to fibrotic scarring, originating from different aetiology. Although iatrogenic aetiology is the main cause of subglottic or tracheal stenosis, also autoimmune and infectious diseases may be involved in causing LTS. Furthermore, fibrotic obstruction in the anatomic region under the glottis can also be diagnosed without apparent aetiology after a comprehensive workup; in this case, the pathological process is called idiopathic subglottic stenosis (iSGS). So far, the laryngotracheal scar resulting from airway injury due to different diseases was considered as inert tissue requiring surgical removal to restore airway patency. However, this assumption has recently been revised by regarding the tracheal scarring process as a fibroinflammatory event due to immunological alteration, similar to other fibrotic diseases. Recent acquisitions suggest that different factors, such as growth factors, cytokines, altered fibroblast function and genetic susceptibility, can all interact in a complex way leading to aberrant and fibrotic wound healing after an insult that acts as a trigger. However, also physiological derangement due to LTS could play a role in promoting dysregulated response to laryngo-tracheal mucosal injury, through biomechanical stress and mechanotransduction activation. The aim of this narrative review is to present the state-of-the-art knowledge regarding molecular mechanisms, as well as mechanical and physio-pathological features behind LTS.

The paper provides a clinical description of relapsing polychondritis, a rare systemic immunoinflammatory disease that was characterized by fever episodes, cartilage damage, and reactive arthritis. Diagnostic searching could rule out an infectious disease (by determining a wide variety of potential pathogens), as well as a septic condition due to a pronounced leukemoid reaction of the myeloid type, and the presence of toxigenic neutrophil granulation in peripheral blood and bone marrow. All available clinical, functional, and radiological studies were used to make a differential diagnosis with paraneoplastic syndrome due to blood disease, primarily with myeloma. The data obtained could interpret the changes only as reactive. No increased autoantibody titers were identified. Clinical symptoms and the good effect of prednisolone therapy allowed a diagnosis of relapsing polychondritis, a rare disease that belongs to the group of immunoinflammatory diseases according to the current ideas. It is suggested that autoinflammation plays a role in its pathogenesis.

Abstract Background Relapsing polychondritis (RP) is an uncommon immune-related disease with unknown causes. It is characterized by inflammation of cartilaginous or non-cartilaginous structures, such as the ears, nose, respiratory tract, eyes, and joints. Neurological involvement is rare in RP. Case presentation We report a case of pleocytosis in a 64-year-old man diagnosed as having RP with meningoencephalitis. The patient’s condition markedly improved following methylprednisolone treatment. Conclusions To our knowledge, this is the first report of recurrent pleocytosis in a patient with RP accompanied by meningoencephalitis. Steroid pulse therapy is effective in most cases, and early diagnosis is of importance.

Fernando Kemta Lekpa,1,2 Xavier Chevalier3 1Faculty of Health Sciences, University of Buea, Buea, 2Reheumatology Unit, Internal Medicine Department, General Hospital, Douala, Cameroon; 3Department of Rheumatology, Henri Mondor Hospital, University Paris 12, Créteil, France Abstract: Relapsing polychondritis is a severe systemic immune-mediated disease characterized by an episodic and progressive inflammatory condition with progressive destruction of cartilaginous structures. This disease has for nearly a century kept secrets not yet explained. The real incidence and prevalence of this rare disease are unknown. The multiple clinical presentations and episodic nature of relapsing polychondritis cause a significant diagnosis delay. No guidelines for the management of patients with relapsing polychondritis have been validated to date. The challenges remain, both in the understanding of its pathophysiology and diagnosis, evaluation of its activity and prognosis, and its treatment. Possible solutions involve the sharing of data for relapsing polychondritis from worldwide reference centers. Thus, we would be able to evolve toward a better knowledge of its pathophysiology, the publication of new diagnosis criteria, which will include biological markers and imaging findings, the prediction of life-threatening or organ-threatening situations, and the publication of therapeutic evidence-based guidelines after performing at randomized controlled trials. Keywords: relapsing polychondritis, diagnosis, criteria, disease activity, treatments, biologics

Relapsing polychondritis is a potentially lethal but rare systemic autoimmune disease. The major site of inflammation is the connective tissue, usually involving the ears, nose, larynx, tracheobronchial tree, and cardiovascular system. Although scleritis and episcleritis are known to be the most probable ocular manifestation, it may also present with uveitis. We present the case of a 22-year-old young lady who initially referred with bilateral red and painful eyes caused by anterior uveitis. Her right ear was also red and painful, consistent with cartilaginous inflammation. She was diagnosed with relapsing polychondritis with bilateral anterior uveitis and chondritis of the ear in conjunction with the rheumatology department. Bilateral anterior uveitis should evaluated and monitored carefully in patients with relapsing polychondritis.

Relapsing polychondritis (RP) is a multisystem inflammatory disease affecting all types of cartilage and proteoglycan-rich tissues with recurrent bouts of inflammation resulting in tissue damage. The pleomorphic nature, the wide spectrum of clinical features and insidious onset of the disease makes the diagnosis of RP a challenge for clinicians. Eyelid edema is a recognized manifestation of this disease frequently in association with inflammation in other parts of eyes. This case highlights eyelid edema in a patient who presented primarily with chondritis of the pinna, which subsided with steroids.

Relapsing polychondritis (RP) is a generalized progressive autoimmune inflammatory disease of the cartilaginous tissue, which leads to structural changes in the cartilage until its complete disappearance. To date, about 800 RP cases have been described in the world. The clinical manifestations of RP are diverse, which often complicates the early diagnosis of the disease. The most commonly used drugs to stop RP activity are glucocorticoids, the dose of which depends on the severity of its clinical manifestations, but there is no evidence for their effect on the progression of the process and the risk of relapse. The paper describes a clinical case of early diagnosis and successful treatment of the disease, which could prevent possible complications and disability in the patient.

Background: Programmed death‐1 checkpoint inhibitors, such as nivolumab, have successfully been utilized for recurrent or metastatic squamous cell carcinoma of the head and neck; however, their use may be associated with immune‐related adverse effects (irAEs). Methods: We describe a case of tracheobronchial chondritis as a rare irAE in a 72‐year‐old man with multiple pulmonary metastases of hypopharyngeal squamous cell carcinoma treated with nivolumab, who was seen with a 2‐week history of fever, nonproductive cough, and dyspnea. Results: CT revealed a thickened tracheobronchial wall and narrowed intraluminal space resulting in respiratory symptoms, despite significant clinical response of the metastases. He was clinically diagnosed with tracheobronchial chondritis and treated successfully by steroid therapy. His diagnosis was confirmed by a positive serum anti‐collagen type 2 antibody test. Conclusions: In addition to interstitial lung disease, tracheobronchial chondritis should be considered as a possible irAE in patients with acute respiratory symptoms after nivolumab administration. [ABSTRACT FROM AUTHOR]

A 69‐year‐old man underwent single‐incision laparoscopic colectomy for a colon tumor. He had comorbid relapsing polychondritis, an uncommon and intractable chronic inflammatory disease that shows various symptoms and systemically invades the cartilaginous tissue throughout the body. In this case, the bronchial wall was edematous and the glottis was incompetent. Steroids were also administered. Although the patient had high‐risk factors for surgical complications, none occurred during the perioperative period. Once the C‐reactive protein value returned to within the normal range after surgery, we reduced the steroid dose. This is the first report of single‐incision laparoscopic colectomy for a patient with relapsing polychondritis. [ABSTRACT FROM AUTHOR]

Relapsing polychondritis (RPC) is a rare autoimmune disease that is characterized by recurrent inflammation and destruction of cartilaginous tissues. Limbic encephalitis is a rare central nervous system manifestation of RPC that has been mentioned in case reports. Recognition of this association, and reliable methods of diagnosis, including the utility of neuroimaging modalities such as positron emission tomography/computed tomography (PET/CT) can be useful in the evaluation of this diagnostic challenge. We report a patient with limbic encephalitis associated with RPC, where PET/CT was effectively used in the diagnosis, and monitoring of response to treatment. We also demonstrate that it can be a useful modality in certain situations when brain magnetic resonance imaging cannot be done. [ABSTRACT FROM AUTHOR]

Objective: The diagnosis of relapsing polychondritis (RP) is often mistaken or delayed. In this retrospective cohort, we aimed to unveil the causes responsible for such phenomenon, to determine the associated factors, and to compare diagnosis in clinical settings with the current diagnostic criteria. Method: Eighty-seven RP patients followed-up by rheumatologists from January 1, 2008, to October 31, 2018, were retrospectively analyzed. Results: A total of 50 male and 37 female patients were included with a mean age of 45.9 ± 14.5 years. Ninety-three percent were initially admitted by non-rheumatologic specialists.Twenty-eight percent were correctly diagnosed, while 72% were misdiagnosed at the first visits, all by non-rheumatologic specialists. Patients admitted by non-rheumatologic specialists had increased odds of misdiagnosis (odds ratio [OR] = 1.3, 95% confidence interval [95% CI] 1.1–1.7, P = 0.000). Fifty-seven (65.5%) patients did not meet with Michet or Damiani criteria, with 16 (18.4%) patients diagnosed as partial RP and 41(47.1%) patients diagnosed as limited RP. Conclusions: Incorrect and delayed diagnosis of RP is common in our cohort, and insufficient awareness of the disease in non-rheumatologic specialists at least partially contributes to this. It is imperative to revise the current criteria for early diagnosis. Key Points • Diagnosing relapsing polychondritis (RP) in early stage remains challenging after all these years, especially among non-rheumatologic specialists, indicating the importance of teaching non-rheumatologic specialists to improve their understanding of this rare disease. • Many RP patients did not fully meet with the current criteria, suggesting that revision of the current criteria is imperative for early diagnosis of this rare disease. [ABSTRACT FROM AUTHOR]

Relapsing polychondritis (RP) is a rare multisystem disease characterized by inflammation in cartilaginous structures and other connective tissues throughout the body, affecting the ears, nose, eyes, joints, respiratory tract, heart, and blood vessels. Cardiovascular involvement is the second most common cause of mortality after laryngotracheal involvement. [1] Here, we report a successful surgical case of RP in which the patient underwent aortic and mitral valve replacement and concomitant coronary artery bypass grafting. [ABSTRACT FROM AUTHOR]

Introduction Relapsing polychondritis (RP) is a rare disease evolving with recurrent cartilage inflammation, but also with ocular, respiratory, cardiac and vascular involvement. Associations with various autoimmune disorders and with hematological diseases, mainly leukemia, lymphoma and myelodysplastic syndrome and rarely with hemolytic anemia, have been described. We report a 63-year patient with thyroiditis and pernicious anemia in whom a left eye necrotizing scleritis led to the diagnosis of RP and common variable immune deficiency (CVID). The necrotizing scleritis was successfully operated with scleral graft. However, the disease control was difficult to be achieved with glucocorticoids and various immune suppression regimens tried (including cyclophosphamide, cyclosporine, azathioprine, leflunomide and infliximab) along with immunoglobulin substitution. The association of RP and CVID or CVID-like diseases is rare, another 4 cases having been reported. We review the literature and discuss the diagnostic and management difficulties. A multidisciplinary team approach is necessary in this setting [ABSTRACT FROM AUTHOR]

Aim: Genetic factors are believed to be implicated in the pathogenesis of relapsing polychondritis (RP). However, the molecular genetic determinants remain to be elucidated. This study aimed to detect the susceptibility genes of RP with whole‐exome sequencing (WES) in a Chinese family and deepen our understanding of the pathogenesis of RP thereafter. Method: A 32‐year‐old Chinese female proband with RP and her family including her mother with RP were enrolled in the study. The genomic DNA of 6 human subjects was extracted from peripheral blood and then gene allele mutations were identified using WES. Candidate variants with low frequency (<0.1%) in the general population and predicted deleterious effects on gene function were identified. Sanger sequencing was applied subsequently to confirm the analyzed gene variants in 12 human blood samples. Results: Nine single nucleotide polymorphism variants from different genes were identified to associate with RP by WES and further confirmed by Sanger sequencing, including Ring finger protein 207 (RNF207), collagen type XXII alpha 1 chain (COL22A1) rs200464636, glycosylphosphatidylinositol anchor attachment 1 (GPAA1) rs201424010, recQ like helicase 4 (RECQL4) rs757703895, folliculin (FLCN) NM_144606: c.G838A: p.E280K, DNA ligase 3 (LIG3) rs761808558, NM_207396: c.T425C:p.I142T, myosin heavy chain 15 (MYH15) NM_014981: c.G4462A: p.A1488T, purkinje cell protein 2 (PCP2) rs144974437 and coiled‐coil domain containing 61 (CCDC61) rs777816675. Conclusions: This study suggests that coinheritance of multigene mutation may contribute to RP predisposition. The candidate genes mutated which we discovered are potential targets for in‐depth functional studies. [ABSTRACT FROM AUTHOR]

Relapsing polychondritis (RP) is a rare multisystemic disease. It affects cartilage and proteoglycan-rich structures. Ocular findings are the most frequent systemic involvement of the disease. The most common ocular manifestations are episcleritis and scleritis. During the course of the disease, uveitis may also be seen. However, as far as we know, nongranulomatous anterior uveitis with hypopyon is an uncommon ocular finding. In this article, we report a 27-year-old male patient who presented with hypopyon anterior uveitis as a revealing manifestation of RP. [ABSTRACT FROM AUTHOR]

Relapsing polychondritis is a rare multi-system disease characterized by inflammation in cartilaginous structures and other connective tissues. Cardiovascular complications occur in 10–51% of the patients. We report a case of concomitant aortic valve replacement, mitral valve replacement, and coronary artery bypass grafting in a patient with relapsing polychondritis. A 71-year-old female with relapsing polychondritis on prednisolone (5 mg/day) for 15 years presented at our hospital for further evaluation of valvular disease. Severe aortic stenosis and severe mitral regurgitation were diagnosed. We performed aortic and mitral valve replacement. During surgery, we found connective tissue surrounding the intima of the sinus of Valsalva and stenosis of the right coronary artery ostium, which was not noted on preoperative coronary angiography. We removed the tissue and performed bypass grafting to the right coronary artery. Postoperative recovery was uneventful, and she was discharged 27 days after surgery. [ABSTRACT FROM AUTHOR]

Objective To evaluate 18F-fluorodeoxyglucose (FDG) PET/CT in the assessment of disease activity, extent of the disease and response to therapy in relapsing polychondritis. Methods Twenty-five patients (9 men, 16 women) with a mean age of 38.2 years (s. d. 13.7; range 18–62), diagnosed to have relapsing polychondritis according to Damiani and Levine's modification of McAdam's criteria, who underwent PET/CT examination were included. Ten patients underwent a second PET/CT examination after therapy or during follow-up. Clinical symptoms and auxiliary examination findings were recorded. PET/CT findings were reviewed and correlated with the clinical symptoms. Results The major symptoms were aural pain (n = 21), nasal pain (n = 10), stridor (n = 5), cough (n = 9), fever (n = 8) and laryngeal tenderness (n = 8). The initial PET/CT was positive in 23/25 patients. PET/CT revealed involvement of auricular (n = 14), nasal (n = 8), laryngeal (n = 7), tracheobronchial (n = 6) and Eustachian (n = 3) cartilages with a mean maximum standardized uptake value (SUVmax) of 4.1 (s. d. 2.5; range 1.7–12.7). Fair correlation of aural/nasal pain/stridor with FDG avidity of cartilage involvement on PET/CT was noted. The key finding was detection of asymptomatic large airway involvement in seven patients (28%). Re-examination PET in 10 patients revealed complete therapeutic response (n = 5), partial response (n = 1), stable disease (n = 1), progressive disease (n = 1) and disease recurrence (n = 2). Conclusion FDG PET/CT is a useful tool for the assessment of the disease activity and extent. It identified activity in clinically inaccessible sites that are of clinical significance. It is also useful in assessing treatment response and finding relapse. [ABSTRACT FROM AUTHOR]

Relapsing polychondritis (RP) is a chronic inflammatory disease that affects cartilage and connective tissue, the cause of which is unknown. Antibodies against type 2 collagen and matrilin-1 protein are responsible for the pathogenesis of the disease. Ocular involvement initially occurs in 19% of patients and in 50% of disease course. Periorbital edema, tarsitis, chemosis and propitis, extraocular involvements such as muscle palsy, local or diffuse episcleritis, anterior and posterior scleritis occur at the onset or course of the disease. A 36-year-old male patient who was admitted to the outpatient clinic with complaints of pain, burning, stinging, redness in the eye was being treated for RP. On the ophthalmologic evaluation, open angle glaucoma was diagnosed and the treatment started. In this case report, the aim is to emphasize that glaucoma in RP patients can also manifest itself as an open glaucoma not previously defined. [ABSTRACT FROM AUTHOR]

Abstract About a half of all patients with relapsing polychondritis show airway involvement, which is a major cause of morbidity and mortality from this disease. FDG‐PET/CT is useful in the differential diagnosis of relapsing polychondritis from asthma.

A 70-year-old woman with a hoarse voice and dry cough was referred to our hospital. Positron emission tomography/computed tomography showed abnormal accumulation of fluorine-18 fluorodeoxyglucose (FDG) at the nasal septum, larynx, trachea, bronchus, and costal cartilages. The maximum standard uptake values of FDG accumulation in the nasal septum and costal cartilage were similar. Biopsies of the nasal septum and costal cartilage were performed. The patient was diagnosed with relapsing polychondritis (RP) based on the clinical features and pathological findings. Histopathological examination revealed progressive initial RP findings. The disease progression was different, even with the same FDG accumulation. [ABSTRACT FROM AUTHOR]

Relapsing polychondritis (RP) is a rare autoimmune inflammatory disease characterized by recurrent inflammation and destruction of cartilage. Although auricular chondritis is a characteristic finding in RP, it can be difficult to diagnose in the absence of auricular symptoms. A 64-year-old Japanese male was referred to our hospital with fever and respiratory distress. Contrast-enhanced computed tomography (CT) revealed bronchial wall thickening and we suspected RP; however, he had no auricular symptoms and did not meet the diagnostic McAdam criteria for RP, so we used 18F-fluorodeoxyglucose positron emission tomography/CT (FDG-PET/CT) to search for other cartilage lesions. This analysis revealed FDG accumulation not only in the bronchial walls, but also in the left auricle. Instead of a bronchial biopsy using a bronchoscope, we performed a biopsy of the left auricular cartilage, which is considered a relatively less invasive site. Even though the auricle was asymptomatic, the pathology results revealed chondritis. He was diagnosed with RP, and his symptoms rapidly improved with corticosteroid therapy. A biopsy of asymptomatic auricular cartilage may be useful in the diagnosis of RP. FDG-PET/CT is a powerful tool for the early diagnosis of RP, identifying inflammatory areas even in the absence of symptoms, and guiding the selection of appropriate biopsy sites.

We report the case of a patient who developed antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV) after receiving the coronavirus disease 2019 (COVID-19) vaccine BNT162b (Pfizer–BioNTech). A 37-year-old Japanese woman had been taking propylthiouracil for Graves’ disease. She had erythema on her forearm on the 12th day after receiving the first dose of the vaccine, fever on the 13th day, and redness and swelling of her left auricle on the 25th day. Her serum myeloperoxidase-ANCA and proteinase 3-ANCA levels, which were negative before the Graves’ disease treatment, were elevated. She had unilateral auricular symptoms but no other typical relapsing polychondritis findings. She was diagnosed with propylthiouracil-induced AAV. She was treated with oral glucocorticoids, and her symptoms improved. Propylthiouracil is considered to be the main cause of the onset of AAV in this case, but it cannot be ruled out that BNT162b may have had some effect on the onset of the disease. Although the development of propylthiouracil-induced AAV in this case may have been incidental and unrelated to the vaccination, this report provides important data for evaluating the safety of the vaccine.

Relapsing polychondritis (RP) is a rare autoimmune and inflammatory disease, particularly characterized by recurrent inflammation of the hyaline cartilage. Laryngotracheal involvement in RP is the most serious complication that is observed in 50% of the patients and may lead to a life-threatening condition. The most common cause of death is laryngotracheal stenosis associated with lung infections or severe respiratory insufficiency that may be observed in 10%- 50% of the patients. In this study, three RP patients comprising a child with isolated laryngotracheal stenosis have been presented.

Purpose: To report a case of surgical interventions for a patient with relapsing polychondritis who presented with late ocular complications. Observations: A 44-year-old male was diagnosed to have relapsing polychondritis on the basis of recurrent acute auricular chondritis, deformity of the ear, saddle nose deformity and painful nasal chondritis, acute ocular inflammation with conjunctivitis, episcleritis and keratouveitis, laryngotracheal chondritis, erythema nodosum in the skin, a history of polyarthritis, and abnormal blood examination findings. The acute ocular and auricular inflammation was resolved with oral corticosteroid treatment. Intraocular pressure (IOP) of the left eye was 60 mmHg as measured by Goldmann applanation tonometer. Gonioscopic observation revealed the presence of peripheral anterior synechiae and plateau iris configuration. Express drainage screw implantation was applied to the left eye, because topical and systemic medicines failed to decrease the IOP. After 12 months, complicated cataract aggravated in the right eye, and phacoemulsification operation was performed with corticosteroids administered during the perioperative period. His corrected visual acuity was 20/20 for the right eye, and the IOP remained below 21 mmHg for the left eye. The patient has been healthy, without any recurrence, for 36 months. Conclusions and importance: The present case of relapsing polychondritis is the first to be reported wherein late ocular complications were alleviated by surgical interventions. Routine use of corticosteroids is necessary for successful anti-glaucoma and phacoemulsification operations.

Relapsing polychondritis is a rare multisystem autoimmune disorder characterized by recurrent, progressive inflammation and destruction of cartilaginous tissue. Respiratory involvement is the major cause of morbidity and mortality. Airway management during anaesthesia in these patients can be challenging and may result in failed oxygenation and death. Increased physiological demand during pregnancy further complicates anaesthesia planning. Collaborative management under a multidisciplinary team of obstetricians, obstetric anaesthetists, rheumatologist, and pulmonologist is essential. We report a case of a parturient with relapsing polychondritis and severe respiratory involvement for caesarean section under combined epidural-spinal anaesthesia and discuss the anaesthetic management based on current literature. [ABSTRACT FROM AUTHOR]

We describe a 75-year-old woman with rapid onset orbital inflammatory syndrome as her initial manifestation of relapsing polychondritis. Patient presented after the development of right eyelid swelling, erythema, and proptosis over a 48-hour period. Visual acuity was 20/30 in both eyes. Intraocular pressure was elevated in her right eye along with severe restriction of extraocular motility. Magnetic resonance imaging of the orbits revealed thickened right medial and inferior recti muscles. Serologic laboratory data was unrevealing. Patient demonstrated marked improvement within 12 hours of administration of intravenous corticosteroids. She was symptom-free after 1 week. A diagnosis of relapsing polychondritis was confirmed 3 weeks later after new onset complaints of right ear pain and a rash. [ABSTRACT FROM AUTHOR]

Relapsing polychondritis (RPC) is a systemic immune-mediated disease characterized by recurrent and progressive inflammation of cartilaginous tissues. 64% of RPC patients concurrent with other autoimmune disorders, there are very few reports about the concomitant RPC patients with systemic sclerosis (SSc). Herein we report a case of RPC in a 50-year-old female following SSc with pulmonary arterial hypertension (PAH) 2 years ago. She was treated with corticosteroids, immunosuppressive drugs, oral endothelin-A receptor antagonist and phosphodiesterase type 5 inhibitors. Her ocular and auricular symptoms disappeared quickly. The hemodynamic parameters were also significantly improved after treatment. To our knowledge, this is the first RPC complicated with SSc-PAH reported. [ABSTRACT FROM AUTHOR]

Relapsing polychondritis is a chronic autoimmune inflammatory condition characterized by recurrent episodes of inflammation at the level of cartilaginous structures and tissues rich in proteoglycans. The pathogenesis of the disease is complex and still incompletely elucidated. The data support the important role of a particular genetic predisposition, with HLA-DR4 being considered an allele that confers a major risk of disease occurrence. Environmental factors, mechanical, chemical or infectious, act as triggers in the development of clinical manifestations, causing the degradation of proteins and the release of cryptic cartilage antigens. Both humoral and cellular immunity play essential roles in the occurrence and perpetuation of autoimmunity and inflammation. Autoantibodies anti-type II, IX and XI collagens, anti-matrilin-1 and anti-COMPs (cartilage oligomeric matrix proteins) have been highlighted in increased titers, being correlated with disease activity and considered prognostic factors. Innate immunity cells, neutrophils, monocytes, macrophages, natural killer lymphocytes and eosinophils have been found in the perichondrium and cartilage, together with activated antigen-presenting cells, C3 deposits and immunoglobulins. Also, T cells play a decisive role in the pathogenesis of the disease, with relapsing polychondritis being considered a TH1-mediated condition. Thus, increased secretions of interferon γ, interleukin (IL)-12 and IL-2 have been highlighted. The "inflammatory storm" formed by a complex network of pro-inflammatory cytokines and chemokines actively modulates the recruitment and infiltration of various cells, with cartilage being a source of antigens. Along with RP, VEXAS syndrome, another systemic autoimmune disease with genetic determinism, has an etiopathogenesis that is still incompletely known, and it involves the activation of the innate immune system through different pathways and the appearance of the cytokine storm. The clinical manifestations of VEXAS syndrome include an inflammatory phenotype often similar to that of RP, which raises diagnostic problems. The management of RP and VEXAS syndrome includes common immunosuppressive therapies whose main goal is to control systemic inflammatory manifestations. The objective of this paper is to detail the main etiopathogenetic mechanisms of a rare disease, summarizing the latest data and presenting the distinct features of these mechanisms.

Background: Patients with relapsing polychondritis (RP) sometimes experience upper airway collapse or lower airway stenosis, and bronchoscopy may provide a valuable typical image to confirm the diagnosis. This study aimed to identify potential risk factors associated with severe adverse effects during bronchoscopy., Methods: We performed a retrospective cohort study of 82 consecutive patients with RP hospitalized at Peking Union Medical College Hospital between January 1, 2012 and December 31, 2022. Clinical features and disease patterns were compared among patients with RP undergoing bronchoscopy with or without severe adverse effects. Binary logistic regression analysis was performed to identify the associated risk factors., Results: For patients with RP undergoing bronchoscopy with severe adverse effects, the forced vital capacity (FVC), forced vital capacity percent predicted values (FVC%), and peak expiratory flow were significantly lower (P = 0.001, P = 0.001, and P = 0.021, respectively) than those in the non-severe adverse effect subgroup. Binary logistic regression analysis revealed that low FVC% (odds ratio, 0.930; 95% confidence interval, 0.880-0.982; P = 0.009) was an independent risk factor for severe adverse events in patients undergoing bronchoscopy., Conclusions: Low FVC or FVC% suggests a high risk of severe adverse effects in patients with RP undergoing bronchoscopy. Patients with such risk factors should be carefully evaluated before bronchoscopy and adequately prepared for emergency tracheal intubation or tracheostomy., (© 2024. The Author(s).)

Background: Relapsing polychondritis (RP) is a rare inflammatory systemic disease characterized by recurrent inflammatory episodes of cartilaginous and proteoglycan-rich tissues, particularly ears, nose, respiratory tract, eyes, and joints., Purpose: To present the clinical features, management, and prognosis of three Hispanic patients presenting with RP and ocular involvement as the first manifestation of the disease., Conclusion: This study extends the knowledge regarding ocular disease characteristics in patients with RP. Furthermore, it increases ophthalmologists' awareness of the findings, leading to earlier diagnoses and adequate treatment for improved patients' prognoses.

Background: Commonly clinically diagnosed with relapsing polychondritis (RP), vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome (VEXAS) is a recently identified autoinflammatory disease caused by UBA1 somatic mutations. The low frequency and dynamic changes challenge the accurate detection of somatic mutations. The present study monitored these mutations in Chinese patients with RP. We included 44 patients with RP. Sanger sequencing of UBA1 was performed using genomic DNA from peripheral blood. Droplet digital polymerase chain reaction (ddPCR) was performed to screen low-prevalence somatic variants., Results: Multiple ddPCR detections were performed using available blood samples collected at different follow-up time points. Three male patients were UBA1 somatic mutation carriers. Sanger sequencing detected the somatic UBA1 variant c.122T > C (p.Met41Thr) in two male patients. Initial ddPCR confirmed the variant in the two patients, with allele fractions of 73.75% and 88.46%, respectively, while yielding negative results in other patients. Subsequent ddPCR detected the somatic variant (c.122T > C) with low prevalence (1.02%) in another male patient from blood samples collected at a different time point, and confirmed dynamically fractional abundance in one patient with VEXAS, with allele fractions of 73.75%, 61.28%, 65.01%, and 73.75%. Nine patients assessed by ddPCR at different time points remained negative., Conclusion: We report UBA1 variants in patients with RP in the Chinese population for the first time. Multiple ddPCR detections from samples collected at different time points can enhance sensitivity and should be considered for patients with initial negative ddPCR results., (© 2024. The Author(s).)