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Objective Airway obstruction can occur in patients with relapsing polychondritis with laryngeal involvement, occasionally requiring tracheostomy to avoid serious complications. Herein, we assessed the risk factors for tracheostomy and developed a risk prediction model. Methods Clinical characteristics of patients with relapsing polychondritis, with and without tracheostomy, were compared using multivariate logistic regression analysis to identify risk factors. A nomogram was developed to predict the population at risk of requiring tracheostomy. Results In total, 232 patients with relapsing polychondritis were reviewed, of whom 146 had laryngeal involvement. Among them, 21 underwent a tracheostomy. Multivariate logistic analysis identified ages ≤25 or ≥65 years [ P  < 0.001, odds ratio (OR) 24.584, 95% CI 5.310–113.815], laryngotracheal oedema (P  < 0.001, OR 26.685, 95% CI 4.208–169.228) and pulmonary infection (P  = 0.001, OR 18.834, 95% CI 3.172–111.936) as independent risk factors for tracheostomy. A nomogram with a C-index of 0.936 (95% CI 0.894–0.977) was established based on the multivariate analysis. Internal bootstrap resampling (1000 repetitions) confirmed sufficient discriminatory power with a C-index of 0.926. Decision curve analysis indicated a superior net benefit of the nomogram. Tracheostomy was associated with a significant increase in the in-hospital mortality rate (P  = 0.021), but it did not affect the long-term survival rate (P  = 0.706). Conclusion Tracheostomy is associated with an increase in the short-term mortality rate but does not affect the long-term survival rate. The nomogram developed in this study may help identify patients at high risk for tracheostomy and aid in clinical decision-making. [ABSTRACT FROM AUTHOR]

Objectives: Our aim was to investigate the diagnostic challenges and management of relapsing polychondritis (RP) with airway involvement, highlighting the need for accurate diagnosis and effective intervention to prevent severe complications. Methods: In this retrospective study, medical records from January 2011 through June 2024 at a single tertiary-care institution were reviewed. This study was approved by the institutional review board. A total of 34 patients were diagnosed with RP, among whom 4 presented with significant airway complications. This study focused on these four patients, detailing their clinical presentations, diagnostic processes, and outcomes following various interventions. Results: All patients were initially misdiagnosed with asthma and later developed severe airway issues necessitating interventions such as tracheotomy and endotracheal intubation. Diagnostic imaging, microlaryngoscopy and bronchoscopy (MLB) were crucial for identifying subglottic stenosis and other airway alterations. Treatments included high-dose steroids, rituximab, and surgical interventions such as balloon dilation and tracheostomy. Only one patient could be decannulated; the other three remained dependent on tracheostomy and experienced significant complications due to emergency medical interventions. Conclusions: RP can manifest with nonspecific respiratory symptoms similar to asthma, which may delay correct diagnosis and appropriate treatment, leading to critical airway complications. The early, precise identification of RP, particularly with airway involvement, is vital. MLB and dynamic expiratory CT scans play significant roles in clinical diagnosis and management. A multidisciplinary approach involving otolaryngologists, rheumatologists, and pulmonologists is essential for optimizing patient outcomes and minimizing complications. [ABSTRACT FROM AUTHOR]

Abstract Background Relapsing Polychondritis(RP) is a rare rheumatic immune disease. As with most diseases, if intervention is delayed, the patient’s prognosis is worse. Currently, the diagnostic criteria used in clinical practice do not include CT, PET/CT, SPECT/CT and other new imaging examinations that have developed rapidly in recent years. However, these examinations have some special manifestations for RP, which can help clinicians diagnose RP earlier and distinguish it from other diseases. Case presentation These five RP patients all had respiratory symptoms such as cough and wheezing as the first symptom, which could not be diagnosed in time according to the previous diagnostic criteria. The clinical data of the five patients are listed in Table 1. The relatively specific manifestations of SPECT/CT examination provided clinicians with very valuable clues to help them advance the diagnosis time. Conclusions The application of SPECT/CT bone imaging in early diagnosing RP proves to be effective, enabling clinicians to intervene promptly and enhance the overall well-being and quality of life for individuals affected by this condition.

Relapsing polychondritis (RP) is an immune-mediated systemic disease characterized by recurrent attacks of inflammation of cartilage and proteoglycan-rich tissues, resulting in progressive anatomical deformation and functional impairment in the affected areas. The most common clinical features include ear and nasal chondritis, as well as polyarthritis, though potentially all cartilage areas can be affected. Delay in diagnosis is frequently encountered due to the progression of the disease and non-specific symptoms at the beginning. 30% of RP patients may have concomitant autoimmune disorders. In our case, a 42-year-old male patient diagnosed with RP was treated with methotrexate, leflunomide, tumor necrosis factor inhibitors and tociluzumab, but showed no improvement. Consequently, the patient was administered cyclophosphamide. Unfortunately, pneumomediastinum developed on the sixth day of treatment. The condition resolved without the need for surgical intervention. However, although the case received many treatments mentioned in the literature, he still did not go into complete remission.

Abstract Relapsing polychondritis (RP) is a systemic immune mediated disease characterized by recurrent episodes of inflammation in various cartilage-rich areas. RP may cause extensive tissue destruction and is associated with significant morbidity and mortality. In this multicenter study, we considered the remission status and long-term outcomes of RP in patients who were followed-up in six referral rheumatology centers in Iran. Outcomes of disease was assessed by remission status and RP induced damage. A total of 29 patients with RP were examined for enrollment in the study, and 26 patients with a minimum follow-up period of 6 months were included in the RP outcome analysis. Median time to control of symptoms and sustained remission were 5 and 23 weeks, respectively. Prednisolone was discontinued in 8 (30.8%) patients and medication-free remission was achieved in 7 (23.1%) patients. Regarding the disease course, 34.6% of patients had a relapsing–remitting course, 42.3% had a monophasic course, and 23.1% had an always-active course. Despite extensive treatment with immunosuppressive medications, RP induced damage was developed in 21 (80.8%) patients. Ear deformity and osteoporosis were the most common RP induced damage. Long-term remission and medications-free remission in RP is accessible. However, RP related damage occur in majority of patients.

Abstract Rationale Relapsing polychondritis (RP) is an immune-mediated systemic inflammatory disease involving cartilage and proteoglycan-rich tissues. Pustular psoriasis (PP) is a psoriasis subtype characterized by skin erythema and sterile pustules. In previous studies, there were few reports on patients with RP combined with psoriasis, and treatment strategies are not standardized. Patient concerns An 80-year-old Chinese woman with a 7-year history of atrial fibrillation, a 1-year history of coronary atherosclerotic heart disease, and no familial history, had a 2-month history of skin rash, erythema, swelling and pain in both hands, swollen bilateral auricles, and fingertip gangrene. Diagnosis Based on the diagnostic criteria for generalized pustular psoriasis proposed by Fujita et al. in 2018 and RP proposed by McAdam et al. in 1975, we diagnosed RP with PP as the predominant manifestation. Interventions We started therapy with subcutaneous secukinumab 150 mg weekly for the first month, then 150 mg monthly thereafter. Outcomes After 2 weeks of secukinumab administration, the patient showed significant remission of pustular skin lesions, with almost no joint pain, swollen bilateral auricles, and no adverse reaction. Conclusions Pustular lesions secondary to RP-associated gangrene and swollen auricles were observed, demonstrating a potential immune correlation between RP and psoriasis in some patients. Although data related to the use of secukinumab for RP and PP is very limited due to the rarity of the two conditions presented together, secukinumab provides a novel therapeutic option. Further prospective studies are needed to support our findings.

Background: Relapsing Polychondritis(RP) is a rare rheumatic immune disease. As with most diseases, if intervention is delayed, the patient's prognosis is worse. Currently, the diagnostic criteria used in clinical practice do not include CT, PET/CT, SPECT/CT and other new imaging examinations that have developed rapidly in recent years. However, these examinations have some special manifestations for RP, which can help clinicians diagnose RP earlier and distinguish it from other diseases. Case presentation: These five RP patients all had respiratory symptoms such as cough and wheezing as the first symptom, which could not be diagnosed in time according to the previous diagnostic criteria. The clinical data of the five patients are listed in Table 1. The relatively specific manifestations of SPECT/CT examination provided clinicians with very valuable clues to help them advance the diagnosis time. Conclusions: The application of SPECT/CT bone imaging in early diagnosing RP proves to be effective, enabling clinicians to intervene promptly and enhance the overall well-being and quality of life for individuals affected by this condition. [ABSTRACT FROM AUTHOR]

Relapsing polychondritis (RP) is an immune-mediated systemic disease characterized by recurrent attacks of inflammation of cartilage and proteoglycan-rich tissues, resulting in progressive anatomical deformation and functional impairment in the affected areas. The most common clinical features include ear and nasal chondritis, as well as polyarthritis, though potentially all cartilage areas can be affected. Delay in diagnosis is frequently encountered due to the progression of the disease and non-specific symptoms at the beginning. 30% of RP patients may have concomitant autoimmune disorders. In our case, a 42-year-old male patient diagnosed with RP was treated with methotrexate, leflunomide, tumor necrosis factor inhibitors and tociluzumab, but showed no improvement. Consequently, the patient was administered cyclophosphamide. Unfortunately, pneumomediastinum developed on the sixth day of treatment. The condition resolved without the need for surgical intervention. However, although the case received many treatments mentioned in the literature, he still did not go into complete remission. [ABSTRACT FROM AUTHOR]

Relapsing polychondritis (RP) is a systemic immune mediated disease characterized by recurrent episodes of inflammation in various cartilage-rich areas. RP may cause extensive tissue destruction and is associated with significant morbidity and mortality. In this multicenter study, we considered the remission status and long-term outcomes of RP in patients who were followed-up in six referral rheumatology centers in Iran. Outcomes of disease was assessed by remission status and RP induced damage. A total of 29 patients with RP were examined for enrollment in the study, and 26 patients with a minimum follow-up period of 6 months were included in the RP outcome analysis. Median time to control of symptoms and sustained remission were 5 and 23 weeks, respectively. Prednisolone was discontinued in 8 (30.8%) patients and medication-free remission was achieved in 7 (23.1%) patients. Regarding the disease course, 34.6% of patients had a relapsing–remitting course, 42.3% had a monophasic course, and 23.1% had an always-active course. Despite extensive treatment with immunosuppressive medications, RP induced damage was developed in 21 (80.8%) patients. Ear deformity and osteoporosis were the most common RP induced damage. Long-term remission and medications-free remission in RP is accessible. However, RP related damage occur in majority of patients. [ABSTRACT FROM AUTHOR]

Rationale: Relapsing polychondritis (RP) is an immune-mediated systemic inflammatory disease involving cartilage and proteoglycan-rich tissues. Pustular psoriasis (PP) is a psoriasis subtype characterized by skin erythema and sterile pustules. In previous studies, there were few reports on patients with RP combined with psoriasis, and treatment strategies are not standardized. Patient concerns: An 80-year-old Chinese woman with a 7-year history of atrial fibrillation, a 1-year history of coronary atherosclerotic heart disease, and no familial history, had a 2-month history of skin rash, erythema, swelling and pain in both hands, swollen bilateral auricles, and fingertip gangrene. Diagnosis: Based on the diagnostic criteria for generalized pustular psoriasis proposed by Fujita et al. in 2018 and RP proposed by McAdam et al. in 1975, we diagnosed RP with PP as the predominant manifestation. Interventions: We started therapy with subcutaneous secukinumab 150 mg weekly for the first month, then 150 mg monthly thereafter. Outcomes: After 2 weeks of secukinumab administration, the patient showed significant remission of pustular skin lesions, with almost no joint pain, swollen bilateral auricles, and no adverse reaction. Conclusions: Pustular lesions secondary to RP-associated gangrene and swollen auricles were observed, demonstrating a potential immune correlation between RP and psoriasis in some patients. Although data related to the use of secukinumab for RP and PP is very limited due to the rarity of the two conditions presented together, secukinumab provides a novel therapeutic option. Further prospective studies are needed to support our findings. [ABSTRACT FROM AUTHOR]

Relapsing Polychondritis (RP) is a rare systemic inflammatory disease. One major cause of death for patients with RP is severe tracheobronchial tree collapse. Treatment guidelines for RP are mainly based on case reports. We report a rare and challenging case of RP in a patient who experienced asphyxia due to severe central airway collapse. The patient had previously been misdiagnosed with refractory asthma due to recurrent wheezing. Following interventions including bronchoscopic laser tracheobronchoplasty, stent placement, corticosteroid therapy, and both invasive and non-invasive mechanical ventilation, the patient was successfully stabilized and subsequently discharged from the hospital. Notably, after discharge, the patient did not require rehospitalisation for worsening respiratory symptoms and was managed with only a gradually tapering glucocorticoid regimen. In our case report, stent placement rapidly relieved asphyxia due to severe tracheobronchial stenosis, and laser tracheobronchoplasty may be a potential cure for diffuse airway collapse due to RP.

Abstract Relapsing polychondritis (RP) is a rare inflammatory disorder involving immune‐mediated destruction of cartilaginous structures. Herein, we present the first report of a strong association between COVID‐19 vaccination and RP development. Clinicians should be aware that RP is among the autoimmune diseases that can develop after mRNA vaccination.

Purpose: Ophthalmic manifestations of varying severity are often associated with systemic autoimmune conditions. Superior orbital fissure syndrome (SOFS) is a rare cranial neuropathy affecting nerves passing through the superior orbital fissure that causes a distinctive pattern of extraocular and pupillary findings. We report the coexistence of SOFS, relapsing polychondritis (RP) and Sjögren's syndrome (SS) in a 52-year-old female who presented with a past medical history of hypothyroidism, Raynaud's syndrome, and intermittent dry mouth and a 1-week history of worsening chemosis, proptosis, diplopia, and painful ophthalmoplegia. Methods: Following a comprehensive eye examination, the patient underwent a CT head with contrast, MRI of the orbit, lumbar puncture, and laboratory investigations. Results: CT and MRI examination revealed inflammatory standing in periorbital subcutaneous soft tissues and bilateral exophthalmos with right intraconal fat stranding surrounding the intraorbital and intracanalicular segments of the nerve, respectively. Lumbar puncture and laboratory investigations revealed an elevation in inflammatory biomarkers, a negative infectious workup, and ruled in SS when considering her history alongside a positive Schirmer test. She was started on high-dose steroids, which led to significant improvement; however, treatment revealed type 2 diabetes, necessitating a faster steroid taper, during which there was a reoccurrence of scleritis and ophthalmoplegia, leading to the initiation of rituximab infusions. After completing rituximab course, she was transitioned back to steroid therapy and was successfully tapered without event. Conclusion: This case is notable for the rare coexistence of SOFS with RP/SS overlap syndrome and highlights the management of concurrent orbital inflammatory syndrome and autoimmune diseases. [ABSTRACT FROM AUTHOR]

Relapsing polychondritis (RP) is a rare inflammatory disorder involving immune‐mediated destruction of cartilaginous structures. Herein, we present the first report of a strong association between COVID‐19 vaccination and RP development. Clinicians should be aware that RP is among the autoimmune diseases that can develop after mRNA vaccination. [ABSTRACT FROM AUTHOR]

Relapsing polychondritis (RPC) is an autoimmune disease manifested by both repeated attacks and a persistent inflammatory process with progressive destruction of cartilaginous structures, in particular, chondritis of the ears, nose, larynx, bronchi, and joints. RPC is a rare disease (about 1000 cases have been described worldwide). Diagnosis of RPC and the choice of treatment tactics are very difficult, which is associated with the rarity of the pathology, undulating, unpredictable course, and the lack of specific laboratory markers.The clinical observations presented in the article confirm the complexity of diagnosing RPC. Before the disease was verified, both patients repeatedly consulted different specialists: the first patient was diagnosed 3 months after the onset of characteristic symptoms of RPC, and the second patient – 1.5 years later. Late diagnosis and the lack of a unified approach to treatment were the reason for the development of prognostically unfavorable lesions in the second patient – chondritis and perichondritis of the larynx.

Abstract Relapsing polychondritis is a rare multisystem disease involving cartilaginous and proteoglycan-rich structures. The diagnosis of this disease is mainly suggested by the presence of flares of inflammation of the cartilage, particularly in the ears, nose or respiratory tract, and more rarely, in the presence of other manifestations. The spectrum of clinical presentations may vary from intermittent episodes of painful and often disfiguring auricular and nasal chondritis to an occasional organ or even life-threatening manifestations such as lower airway collapse. There is a lack of awareness about this disease is mainly due to its rarity. In 2020, VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome, a novel autoinflammatory syndrome, was described. VEXAS syndrome is attributed to somatic mutations in methionine-41 of UBA1, the major E1 enzyme that initiates ubiquitylation. This new disease entity connects seemingly unrelated conditions: systemic inflammatory syndromes (relapsing chondritis, Sweet’s syndrome, and neutrophilic dermatosis) and hematologic disorders (myelodysplastic syndrome or multiple myeloma). Therefore, this article reviews the current literature on both disease entities.

Relapsing polychondritis (RP) is a rare autoimmune systemic disease of nature, with insufficiently elucidated etiopathogenesis, characterized by a predominantly relapsingremitting course, involving elastic, hyaline and fibrous cartilage and tissues abundant in proteoglycans. It may lead to anatomical and functional impairments, with a potentially fatal outcome despite treatment. It usually manifests in the form of auricular and nasal chondritis and polyarthritis. Involvement of the laryngotracheobronchial tree, as well as heart valves and aorta, with the onset of secondary infections of primarily lower portions of the respiratory tract, are the most common reasons for the lethal outcome. Involvement of the eye in the form of episcleritis, scleritis etc., involvement of the inner ear in the form of vestibular disorders and sensorineuronal symptoms, as well as central and peripheral nervous system involvement, comprise a probable clinical spectrum of RP. The diagnosis of the disease is usually significantly delayed; for the diagnosis, clinical presentation is essential, while laboratory findings play only a supportive role, and imaging methods (CT, PET-CT, MRI) are important in disease activity assessments. Mild forms of RP should be treated with non-steroidal anti-inflammatory agents and low doses of corticosteroids, while severe forms are treated using higher or, as needed, pulse doses of corticosteroids, and with conventional and biological disease-modifying drugs (DMARDs). More advanced forms of aortic and valvular disease require surgical treatment. [ABSTRACT FROM AUTHOR]

Abstract 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.

Abstract 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.

Shu Kojima,1 Satohiro Matsumoto,1 Yudai Koito,1 Takaya Miura,1 Masanari Sekine,1 Takeshi Uehara,1 Takeharu Asano,1 Yasuhiro Yamaguchi,2 Hirosato Mashima1 1Department of Gastroenterology, Jichi Medical University Saitama Medical Center, Saitama, Japan; 2Department of Respiratory Medicine, Jichi Medical University Saitama Medical Center, Saitama, JapanCorrespondence: Shu Kojima, Department of Gastroenterology, Jichi Medical University Saitama Medical Center, 1-847 Amanuma, Omiya, Saitama, 330-8503, Japan, Tel +81 48 647 2111, Fax +81 48 648 5188, Email s.kojima@jichi.ac.jpAbstract: A 51-year-old Japanese man was diagnosed with left-sided ulcerative colitis (UC) at age 41. He was treated with mesalazine and azathioprine and maintained remission. At age 51, the patient developed bloody stools, abdominal pain, scleritis, arthritis, cough, bloody sputum, and pericardial effusion. Considering that pericardial effusion is an atypical extraintestinal complication of UC, and the patient met the diagnostic criteria for relapsing polychondritis (RP), a diagnosis of RP complicating a relapse of UC was made. Steroid therapy was administered, and both diseases improved. Golimumab, an anti-tumor necrosis factor-α inhibitor, was introduced as maintenance therapy for UC. All symptoms, including pericardial effusion, improved. Subsequently, no relapse of UC or RP was observed. As only a few cases of RP overlapping with UC have been reported and no treatment protocol has been established, we considered this case valuable and worthy of publication.Keywords: ulcerative colitis, relapsing polychondritis, anti-tumor necrosis factor-α inhibitor, golimumab

A 58-year-old man presenting with dyspnea, weight loss, and night sweating underwent 18F-fluorodeoxyglucose positron emission tomography/ computed tomography (18F-FDG PET/CT) because of a suspicion of malignancy. 18F-FDG PET/CT demonstrated mild to moderate uptake on nasal, cricoid, and tracheobronchial tree cartilages and costovertebral junctions. The diagnosis was relapsing polychondritis, which is a rare multisystem disease characterized by inflammation of cartilage. In addition, subsequent 18F-FDG PET/CT after treatment showed complete metabolic response. [ABSTRACT FROM AUTHOR]

This article presents the first case of VEXAS syndrome identified in the Russian Federation as well as characteristics of currently known clinical manifestations and treatment approaches. The clinical observation described is an impressive example of how the identification of a new pathogenic mutation can change the understanding of the classification, diagnosis and treatment of previously known immunoinflammatory diseases. Thus, in refractory forms of relapsing polychondritis, neutrophilic dermatosis, atypical forms of vasculitis, inflammatory joint diseases or undifferentiated systemic inflammatory syndrome, especially when associated with macrocytic anemia and myelodysplastic syndrome, VEXAS syndrome should be suspected and genetic testing should be performed to exclude the autoinflammatory nature of the existing condition.

Relapsing polychondritis (RPC) belongs to a group of rare rheumatic diseases with poorly understood etiology and pathogenesis. It is based on progressive systemic inflammatory damage to the cartilage tissue, primarily affecting ears, nose, trachea and bronchi. A standardized approach for the treatment of RPC has not yet been developed, so the treatment tactics are individualized for each patient.We describe a clinical case of a 39-year-old patient, who developed RPC after piercing the cartilaginous part of the ear. The components of the alloy used for the piercing could presumably serve as adjuvants and cause the development of a disease similar to ASIA syndrome (Autoimmune/Inflammatory Syndrome Induced by Adjuvants) with inflammation of the cartilage of the nose and ears. Possible pathogenetic mechanisms are presented, as well as diagnostic criteria for ASIA syndrome.

Objectives: Our aim was to investigate the diagnostic challenges and management of relapsing polychondritis (RP) with airway involvement, highlighting the need for accurate diagnosis and effective intervention to prevent severe complications. Methods: In this retrospective study, medical records from January 2011 through June 2024 at a single tertiary-care institution were reviewed. This study was approved by the institutional review board. A total of 34 patients were diagnosed with RP, among whom 4 presented with significant airway complications. This study focused on these four patients, detailing their clinical presentations, diagnostic processes, and outcomes following various interventions. Results: All patients were initially misdiagnosed with asthma and later developed severe airway issues necessitating interventions such as tracheotomy and endotracheal intubation. Diagnostic imaging, microlaryngoscopy and bronchoscopy (MLB) were crucial for identifying subglottic stenosis and other airway alterations. Treatments included high-dose steroids, rituximab, and surgical interventions such as balloon dilation and tracheostomy. Only one patient could be decannulated; the other three remained dependent on tracheostomy and experienced significant complications due to emergency medical interventions. Conclusions: RP can manifest with nonspecific respiratory symptoms similar to asthma, which may delay correct diagnosis and appropriate treatment, leading to critical airway complications. The early, precise identification of RP, particularly with airway involvement, is vital. MLB and dynamic expiratory CT scans play significant roles in clinical diagnosis and management. A multidisciplinary approach involving otolaryngologists, rheumatologists, and pulmonologists is essential for optimizing patient outcomes and minimizing complications.

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. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

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. 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. 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. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

El síndrome de VEXAS (Vacuolas, enzima E1, ligado al X, Autoinflamatorio, Somático) es un síndrome autoinflamatorio de inicio en la edad adulta que se caracteriza por mutaciones somáticas en el gen UBA1 y se considera el prototipo de enfermedad hematoinflamatoria. Los pacientes con síndrome de VEXAS exhiben manifestaciones inflamatorias y hematológicas que pueden conducir a diagnósticos clínicos como policondritis recidivante, poliarteritis nodosa, síndrome de Sweet y síndrome mielodisplásico. El diagnóstico requiere la evaluación de la médula ósea en búsqueda de vacuolas citoplásmicas en precursores mieloides y eritroides. Sin embargo, la confirmación genética de las mutaciones en UBA1 es necesaria. El tratamiento es un desafío y a menudo incluye glucocorticoides e inmunosupresores, con respuestas variables. Las terapias hipometilantes y el trasplante alogénico de células progenitoras hematopoyéticas se consideran terapias prometedoras. El pronóstico es influido por factores genéticos y clínicos. El objetivo de esta revisión es proporcionar una visión general sobre la patogénesis, la presentación clínica, el tratamiento y el pronóstico del síndrome de VEXAS para la comunidad médica latinoamericana. VEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) syndrome is an adult-onset autoinflammatory syndrome characterized by somatic mutations in the UBA1 gene and is considered the prototype of hematoinflammatory diseases. Patients with VEXAS syndrome exhibit inflammatory and hematological manifestations that can lead to clinical diagnoses such as relapsing polychondritis, polyarteritis nodosa, Sweet syndrome, and myelodysplastic syndrome. Diagnosis requires bone marrow evaluation to identify cytoplasmic vacuoles in myeloid and erythroid precursors. However, genetic confirmation of mutations in UBA1 is necessary. Treatment is challenging and often involves glucocorticoids and immunosuppressants with variable responses. Hypomethylating agents and allogenic haemopoietic stem cell transplant are considered promising therapies. Prognosis is influenced by genetic and clinical factors. The aim of this review is to provide an overview of the pathogenesis, clinical presentation, treatment, and prognosis of VEXAS syndrome for the Latin American medical community. [ABSTRACT FROM AUTHOR]

Relapsing polychondritis (RP) remains a difficult-totreat disease of unknown aetiology and uncertain prognosis. Based on McAdam's criteria, rheumatoid arthritis (RA) was diagnosed in a 51-year-old female patient, and sequential therapy with dapsone -- followed by naproxen and methylprednisolone -- was initiated without achieving full remission. During the following years, the patient developed new locations of polychondritis (nose, epiphyses of long bones) and episcleritis. Methotrexate (MTX) was started, which was changed to mycophenolate mofetil (MM) due to adverse effects, resulting in sustained clinical improvement. There were no relapses during the subsequent 12 months of follow-up. The use of MM with good therapeutic effect in our patient is one of the few reported cases of such therapy in a patient with RP. [ABSTRACT FROM AUTHOR]

Background: Relapsing polychondritis (RP) is an inflammatory disease with significant individual heterogeneity that involves systemic cartilage tissues. This study aimed to perform a bibliometric analysis of RP-related publications to quantitatively assess the scholarly productivity in the field. Methods: We extracted the RP-related original research articles and reviews published during 1960–2023 from the Web of Science database by using the keyword "relapsing polychondritis." By using R, CiteSpace, VOSviewer, and SCImago Graphica, the bibliometric analysis was performed on the retrieved publications. Results: A total of 1096 articles, consisting of 909 original research articles and 187 reviews, were identified. A mean annual growth rate of 6.71% was found in the number of RP-related publications during 1960–2022. The United States accounted for the highest number of publications (21.9%), exhibited the highest mean citation number per publication (40.7), and engaged in the most frequent academic collaboration. Three clusters of RP-related journals were identified: 1) otology, rhinology, and laryngology; 2) respiratory and radiology medicine; and 3) rheumatology. Journals with a focus on rheumatology issued the most publications, and most of the RP-related publications were from The Journal of Rheumatology (n = 27). Most of these publications were co-authored by Dr. Jean-Charles Piette (n = 19), who also had the highest H-index (13) among all the authors. The co-citation network analysis revealed 11 highly connected clusters of RP research and indicated the "VEXAS Syndrome" as a hotspot. Conclusion: This overview of the RP research field comprehensively describes the progress in the field. The number of publications on RP has progressively increased but remains insufficient. The United States and European countries are at the forefront of RP-related research, and the journals related to rheumatology have covered the majority of publications. Additionally, several key topics for future investigations, such as "VEXAS Syndrome," have been identified. Key Points •We identified a mean annual growth rate of 6.71% in the number of the RP-related publications during 1960–2022. •The United States accounted for the majority of the publications, exhibited the highest mean citation number per publication, and engaged in the most frequent academic collaborations. •The journals of the publications were categorized into three clusters of research areas: 1) otology, rhinology, and laryngology; 2) respiratory and radiology medicine; and 3) rheumatology. Journals related to rheumatology issued the most publications, and most of the publications were fromThe Journal of Rheumatology •Most of the publications were co-authored by Dr. Jean-Charles Piette, who also had the highest scientific-research impact among the scholars in the field. •The co-citation network analysis revealed 11 highly connected clusters of RP research and indicated the "VEXAS Syndrome" as a key research area. [ABSTRACT FROM AUTHOR]

In 2020, Beck et al 1 described a novel adult autoinflammatory syndrome entitled VEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic), a newly-discovered disorder that connected previously unrelated inflammatory syndromes and a prototype for a new class of hematoinflammatory diseases. 2 Eighty-nine percent of published cases have documented skin involvement, but despite the high incidence and diagnostic accessibility of skin manifestations, there has been little focus on the dermatological features of VEXAS syndrome thus far. A PubMed search of all published case reports of VEXAS syndrome to date was performed, with inclusion of all cases confirmed by genetic sequencing, and this review summarizes the reported dermatological signs. There have already been 141 confirmed published cases since original publication, 126 of which had documented cutaneous signs. 1-34 A wide range of skin presentations are reported, including Sweet-like urticated and tender erythematous nodules, cartilaginous involvement with chondritis, cutaneous vasculitis, and periorbital angiodema. 1-34 Many patients had been diagnosed with Sweet syndrome, relapsing polychondritis, polyarteritis nodosa, or erythema nodosum. 1-34 Hallmarks of skin histopathology are a neutrophilic dermatosis with coexisting or exclusive leukocytoclastic vasculitis. 1 The new classification therefore helps link previously disparate inflammatory skin conditions into a unifying pathophysiological pathway. [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.

Abstract Background The clinical value of 18F-fluorodeoxyglucose (FDG) positron emission tomography/computed tomography (PET/CT) in assessing relapsing polychondritis (RP) with airway involvement remains controversial. This study aimed to investigate PET/CT features of RP with airway involvement and explore its clinical value in predicting disease pattern, severity and prognosis. Methods RP patients with airway involvement who underwent PET/CT from January 2010 to July 2022 were retrospectively reviewed. PET/CT features were analyzed both visually and semiquantitatively with the maximum standardized uptake value (SUVmax) and total lesion glycolysis (TLG). Patterns of airway involvement on PET were summarized. Correlations of SUVmax and TLG of the airway were made with spirometric indicators and serological inflammatory markers (CRP and ESR). In addition, long-term follow-up was conducted through questionnaires in regard to symptom control, subjective feeling, pulmonary function, and quality of life. Results Fifty-two cases were finally included. 18F-FDG PET showed FDG-avid lesions with increased FDG uptake in the airway among 94.2% of the patients. Three patterns (focal, multifocal and diffuse patterns) were identified. TLG of the whole airway was lower in patients with previous therapy (p = 0.046). Bronchoscopy was more sensitive in detecting tracheal abnormalities (90.7% vs.53.5%, p = 0.039) but less sensitive for peripheral airway lesions (65.1% vs. 79.1%, p = 0.046) compared with PET. SUVmax and TLG of the airway positively correlated with spirometry indicators (FEV1%pred, FEV1/FVC, MEF 50%pred, etc.) and serological inflammatory markers. Five patients died during the follow-up, with two deaths related to airway problems. Higher FDG uptake predicted worse subjective feeling, but not with symptom control or pulmonary function. Conclusion PET/CT is a valuable tool for RP with airway involvement, particularly in assessing peripheral airway lesions, and PET/CT related parameters are significantly associated with disease patterns, severity, and long-term outcomes.

Background. Relapsing polychondritis (RP) is characterized by recurrent episodes of progressive inflammation that lead to the destruction of cartilaginous structures. The etiopathogenesis is not fully elucidated, but it seems to be an immunemediated mechanism directed against type 2 collagen. Case reports. We present a series of 3 clinical cases, which associate RP and spondylarthritis – a woman with psoriatic arthritis (PsA) and two men with ankylosing spondylitis (AS). All cases presented with auricular chondritis, which is the emblem of RP. In the PsA case, RP presented typically, with recurrent auricular chondritis, manifested clinically with a cauliflower-like appearance of the ears. In one of the AS cases, a paradoxical immune reaction related to biological therapy was considered in the differential diagnosis of RP. In the other AS case, the patient had a single episode of chondritis, the recurrence of the disease remains to be proved. Conclusions. The diagnosis of RP is usually based on clinical evidence and the elimination of differential diagnoses, since there is no specific laboratory or imaging test. In 20-30% of cases, RP is associated with other conditions, most frequently with vasculitis, but the association of RP with spondylarthritis is rare.

Abstract Background Granulomatosis with polyangiitis and relapsing polychondritis are rare, multisystemic and potentially life-threatening connective tissue diseases. We present two cases of severe endobronchial obstruction in the aforementioned conditions and discuss difficulties with detection and treatment. Despite differing underlying pathophysiologies, endobronchial disease is a less frequently reported but serious complication of both conditions. Case presentation Case 1, a 31-year-old South Asian woman with relapsing polychondritis, required partial tracheal resection and reconstruction in combination with immunosuppressive therapy to achieve respiratory recovery following collapse of her right main bronchus and a stricture in her left main bronchus. Case 2, a 22-year-old Caucasian male with granulomatosis with polyangiitis, underwent surgical resection of an endobronchial growth causing occlusion of his right main bronchus. Although his respiratory status was initially stabilised with increased immunosuppression, he continues to have disease progression in spite of this. Conclusions Our cases highlight the importance of a multidisciplinary approach combining immunosuppression with supportive care and judicious use of surgical interventions in select cases. A further review of the literature shows endobronchial obstruction is potentially under-reported due to overlap in connective tissue disease symptomatology and there is no consensus on best practice.

Background and purpose: Relapsing polychondritis (RP) is a rare rheumatologic disorder that may aect the neurological system with various presentations. In this study, we present a case and summarize the clinical characteristics of RP-associated meningoencephalitis. Case presentation: A 48-year-old man presented with first-ever seizures that were well controlled by valproate. Physical examination results were unremarkable, except for binaural deformation. The initial brain magnetic resonance imaging (MRI) without contrast and electroencephalogram (EEG) findings were normal. However, the patient subsequently developed recurrent fever, scleritis, headache, lethargy, and left arm paresis. Repeated brain MRI with contrast demonstrated increased enhancement of the pia mater and abnormal diusion-weighted imaging (DWI) signals in the bilateral auricles. The cerebrospinal fluid (CSF) analysis showed 2 leukocytes/µL, 736.5 mg/L of protein, and no evidence of infectious disease or autoimmune encephalitis. Meningoencephalitis secondary to RP was considered. The patient’s condition improved significantly and quickly with the administration of dexamethasone (10 mg per day). Oral methylprednisolone was continued, and the patient remained well without relapse during the 9-month follow-up period. Conclusion: RP-associated meningoencephalitis is rare but fatal. Although symptoms vary, red or deformed ears remain the most common and suggestive features. Non-specific parenchymal changes and/or meningeal enhancement can be observed on brain MRI scans. CSF lymphocytic pleocytosis with mild protein elevation was observed in most patients. [ABSTRACT FROM AUTHOR]

Background: Relapsing polychondritis (RP) as a rare autoimmune disease is characterized by recurrent inflammation of the organs containing cartilage. Currently, no biomarkers have been integrated into clinical practice. This study aimed to construct and evaluate models based on laboratory parameters to aid in RP diagnosis, assess activity assessment, and explore associations with the pathological process. Methods: RP patients and healthy controls (HCs) were recruited at the Peking Union Medical College Hospital from July 2017 to July 2023. Clinical data including Relapsing Polychondritis Disease Activity Index (RPDAI) score and laboratory tests were collected. Differences in laboratory data between RP patients and HCs and active and inactive patients were analyzed. Results: The discovery cohort (cohort 1) consisted of 78 RP patients and 94 HCs. A model based on monocyte counts and neutrophil to lymphocyte ratio (NLR) could effectively distinguish RP patients from HCs with an AUC of 0.845. Active RP patients exhibited increased erythrocyte sedimentation rate, complement 3, platelet to lymphocyte ratio (PLR), NLR, and C-reactive protein to albumin ratio (CAR) compared with stable patients, which were also positively correlated with RPDAI. Notably, CAR emerged as an independent risk factor of disease activity (OR = 4.422) and could identify active patients with an AUC of 0.758. To confirm the reliability and stability of the aforementioned models, a replication cohort (cohort 2) was enrolled, including 79 RP patients and 94 HCs. The monocyte-combined NLR and CAR showed a sensitivity of 0.886 and 0.577 and a specificity of 0.830 and 0.833 in RP diagnosis and activity prediction, respectively. Furthermore, lower natural killer cell levels in RP patients and higher B-cell levels in active patients may contribute to elucidating the pathological mechanisms of disease occurrence and exacerbation. Conclusions: The utilization of laboratory parameters provides cost-effective and valuable markers that can assist in RP diagnosis, identify disease activity, and elucidate pathogenic mechanisms. [ABSTRACT FROM AUTHOR]

La polychondrite chronique atrophiante (PCA) est une maladie exceptionnelle, inflammatoire, d'évolution capricieuse. Le diagnostic est avant tout clinique, devant l'inflammation typique du pavillon de l'oreille, du nez et/ou l'atteinte trachéobronchique. L'atteinte rhumatismale est principalement une polyarthrite périphérique non destructrice et non déformante. Les atteintes extracartilagineuses (aortite, valvulopathie, atteinte cochléaire, ophtalmologique, cutanée, du système nerveux central) font de la PCA une maladie systémique. Le syndrome inflammatoire biologique est inconstant et il n'y a pas de biomarqueur validé de PCA. Une EFR avec boucle débit-volume et un scanner thoracique (ou une IRM) en inspiration et expiration sont systématiques, pour rechercher un syndrome obstructif et un épaississement, une prise de contraste des cartilages laryngés et/ou trachéobronchique et une éventuelle malacie. La place de la TEP-FDG est discutée. Certains examens (échocardiographie, audiogramme, examen ophtalmologique) peuvent être réalisés au diagnostic pour servir de référence. Depuis 2020, l'individualisation du VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome), caractérisé par la présence d'une mutation dans le gène UBA1 , détectable dans le sang ou la moelle osseuse, a modifié la perception du sous-groupe de patients atteints de PCA et porteurs de myélodysplasie. Les patients porteurs de PCA dans le cadre d'un VEXAS, avec ou sans myélodysplasie, sont presque tous des hommes au-delà de 50 ans. Leur maladie est remarquable par la fréquence de la fièvre, des infiltrats pulmonaires, des signes cutanés, des manifestations thrombotiques, la rareté de l'atteinte trachéobronchique, un volume globulaire moyen > 100 fL ou une numération plaquettaire < 200 G/L et une résistance aux traitements. Relapsing polychondritis (RP) is a rare inflammatory disease. The diagnosis is based on the evidence of inflamed cartilage, especially of the ears, nose, larynx and the tracheobronchial tractus. Non-cartilaginous organs can be involved, such as the aorta, the heart, the cochlea, the eyes, the skin and the central nervous system. C-reactive protein can be normal in RP, including in case of severe flare and there is no biological marker to help diagnosis. Cartilage biopsies should be avoided. Flow-volume loop and thoracic CT-scan (or MRI) with inspiratory and expiratory sequences are mandatory at diagnosis to detect airway involvement characterized by an obstructive syndrome and thickening with contrast enhancement of the cartilaginous portions of the larynx, trachea and/or bronchia, as well as malacia. The usefulness of PET-scanner is debated. Other examinations (echocardiography, audiometry, ophthalmological examination) are discussed at diagnosis to obtain reference values in case of future organ involvement. Since 2020, the individualization of VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome), characterized by the presence of a mutation in the UBA1 gene detectable in blood or bone marrow, has changed the perception of the subgroup of patients with PCA and myelodysplasia. Patients with PCA in the VEXAS setting, with or without myelodysplasia, are almost all men over 50 years of age. Their disease is remarkable for the frequency of fever, pulmonary infiltrates, skin involvement, thrombotic manifestations, rare tracheobronchial involvement and a mean globular volume > 100 fL or a platelet count < 200 × 109/L with frequent resistance to treatment. [ABSTRACT FROM AUTHOR]

Synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome is a rare chronic inflammatory disease. The main clinical manifestation of SAPHO syndrome is an osteoarthropathy with cutaneous involvement. Relapsing polychondritis (RP) characterized by chronic inflammation and cartilage degeneration is a rare systematic autoimmune disease. Here we report a RP case in a SAPHO syndrome patient, in which auricularitis happened 10 years after the diagnosed as SAPHO syndrome. Tofacitinib treatment can alleviate the symptoms. [ABSTRACT FROM AUTHOR]

Background: Relapsing polychondritis (RP) with cardiac involvement may present with acute cardiovascular events, and may be associated with a negative prognosis. Herein, we analyzed the clinical characteristics of RP patients with cardiac involvement. Method: RP patients, hospitalized from December 2005 to December 2021 at Peking Union Medical College Hospital (PUMCH), were screened. Univariate and multivariate logistic regression analyses were used to statistically analyze the clinical characteristics of these patients. Results: The incidence of cardiac involvement in inpatients with RP was 24.1%. Univariate logistic regression analysis revealed age, central nervous system (CNS) involvement, neutrophil-to-lymphocyte ratio (NLR) > 6.41, and disease duration > 4 years as risk factors for cardiac involvement in RP. Conversely, the incidence of tracheobronchial and chest wall involvement was significantly lower in the group with cardiac involvement. Multivariate logistic regression confirmed that age, CNS involvement, NLR > 6.41, and disease duration > 4 years were independent factors for cardiac involvement. Subsequently, we identified five well-defined clinical patterns of RP, based on the involvement of different organs in our patients, and found that the heart-brain model was significantly mutually exclusive with the airway model. Conclusion: Occurrence of cardiac involvement in RP is associated with age, CNS involvement, NLR, and disease duration. It is mutually exclusive with airwayrelated involvement. Regular echocardiography and electrocardiography are necessary for patients with RP. [ABSTRACT FROM AUTHOR]

Relapsing polychondritis (RP) is a rare autoimmune disease characterized by inflammation of the cartilage structures of the body with typical features of auricular chondritis, nasal and ocular inflammation, audio-vestibular damage, as well as respiratory tract manifestations. It is associated with several autoimmune diseases and many other disorders. Tumor necrosis factor alpha (TNFα) inhibitors treat many chronic inflammatory disorders. They have proven effective and relatively safe in many clinical trials and observational studies. However, several autoimmune phenomena and paradoxical inflammation have been described with TNFα inhibitors, among them RP. This report presents a 43-year-old man with psoriatic arthritis treated with ABP-501 (Amgevita), an adalimumab (ADA) biosimilar and who developed RP, 8 months after the initiation of the treatment. This, is the first report of RP development during TNFα inhibitors biosimilar. We concluded that rheumatologists dealing with patients treated with TNFα inhibitors (originators or biosimilars), should be aware of several paradoxical reactions which may emerge and RP, is one of them. [ABSTRACT FROM AUTHOR]

Relapsing polychondritis (RP) is a rare and, if not treated, potentially lethal autoimmune disorder. Involvement of central nervous system (CNS) in RP is rare and, when present, makes it extremely difficult to diagnose. In this report, we present a case of a 22-year-old Hispanic woman who presented with sudden onset of headache and blurred vision. Magnetic resonance imaging (MRI) of her brain and orbit showed leptomeningeal enhancements in addition to asymmetrical thickening and enhancement of globes. Her lumbar puncture was consistent with aseptic meningitis picture, and she was placed on empirical treatment for presumptive CNS tuberculosis. Her vision deteriorated, and she was diagnosed with RP with CNS and ocular involvement and placed on high-dose steroids with dramatic rapid response. She has been on immunosuppressive treatment, including Sulfasalazine and Methotrexate, since then and her disease has been under control with decreased need for ophthalmic steroid drops. There have been only 19 previous cases found in literature reporting an association of RP with CNS involvement.

Background: Granulomatosis with polyangiitis and relapsing polychondritis are rare, multisystemic and potentially life-threatening connective tissue diseases. We present two cases of severe endobronchial obstruction in the aforementioned conditions and discuss difficulties with detection and treatment. Despite differing underlying pathophysiologies, endobronchial disease is a less frequently reported but serious complication of both conditions. Case presentation: Case 1, a 31-year-old South Asian woman with relapsing polychondritis, required partial tracheal resection and reconstruction in combination with immunosuppressive therapy to achieve respiratory recovery following collapse of her right main bronchus and a stricture in her left main bronchus. Case 2, a 22-year-old Caucasian male with granulomatosis with polyangiitis, underwent surgical resection of an endobronchial growth causing occlusion of his right main bronchus. Although his respiratory status was initially stabilised with increased immunosuppression, he continues to have disease progression in spite of this. Conclusions: Our cases highlight the importance of a multidisciplinary approach combining immunosuppression with supportive care and judicious use of surgical interventions in select cases. A further review of the literature shows endobronchial obstruction is potentially under-reported due to overlap in connective tissue disease symptomatology and there is no consensus on best practice. [ABSTRACT FROM AUTHOR]

Purpose: Relapsing polychondritis (RPC) is a rare, multi-system, inflammatory disorder. Ocular disease is estimated to occur in 14–67% of patients with RPC, and any ocular structure can be affected. Published case reports and series of RPC were analysed to determine the frequency and nature of the ocular manifestations of RPC, including the age and gender distribution. Methods: A literature search of the MEDLINE database for case reports and series on RPC was conducted in October 2021 using search terms [relapsing polychondritis (MeSH Major Topic)] OR [relapsing polychondritis (Title/Abstract)]. Articles were included if the diagnosis of RPC was confirmed using established diagnostic criteria and if the paper described the clinical features of patients with RPC. Results: 546 articles (454 case reports and 92 case series) described the clinical features in a total of 2414 patients with RPC. 49% of patients with RPC had ocular involvement, and this was a presenting feature in 21%. The most common ocular manifestations were scleritis (32%), episcleritis (31%) and uveitis (23%). Conclusion: Many patients with RPC will be seen by an ophthalmologist during the course of their disease. Knowledge and awareness of RPC and its ocular manifestations is therefore essential to enable the ophthalmologist to make the diagnosis. [ABSTRACT FROM AUTHOR]

Summary: Relapsing polychondritis (RP) is a rare inflammatory disease with significant individual heterogeneity that involves systemic organs. The diagnosis of RP mainly depends on the clinical manifestations; currently, there are no molecular biomarkers routinely evaluated in clinical practice. Biomarkers have diagnostic or monitoring values and can predict response to treatment or the disease course. Over the years, many biomarkers have been proposed to facilitate diagnosis and prognosis. Unfortunately, ideal biomarkers to diagnose RP have not yet been discovered. Most of the molecular biomarkers in RP are immunological biomarkers, with autoantibodies and proteins related to cartilage damage in the blood being the most common. Alterations in some genes (HLA typing and UBA1 somatic mutation) were detected in patients with RP, which could serve as a potential biomarker for the diagnosis of RP. Moreover, proinflammatory cytokines and lymphocyte levels, and certain laboratory tests, have certain values of RP diagnosis and disease activity assessment but lack specificity and sensitivity. This review describes the different types of biomarkers and their clinical correlation with respect to the diagnosis of RP and disease activity. Research on biomarkers and disease pathology is ongoing to identify the ideal biomarkers that are sensitive and specific for RP. This review summarizes different types of circulating biomarkers (including genes, autoantibodies, proteins, and immune cells, and so on) in patient with relapsing polychondritis (RP) and their clinical correlation with the disease diagnosis and disease activity, which would help understand disease pathophysiology and identify the ideal biomarkers that are sensitive and specific for RP. [ABSTRACT FROM AUTHOR]