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.

OBJECTIVE: Relapsing polychondritis (RP) is a systemic inflammatory disease of unknown aetiology. The objective of this study was to examine the contribution of rare genetic variations to RP.
METHODS: We performed a case-control exome-wide rare variant association analysis that included 66 unrelated European American cases with RP and 2923 healthy controls (HC). Gene-level collapsing analysis was performed using Firth\'s logistics regression. Exploratory pathway analysis was performed using three different methods: Gene Set Enrichment Analysis, sequence kernel association test and higher criticism test. Plasma DCBLD2 levels were measured in patients with RP and HC using ELISA.
RESULTS: In the collapsing analysis, RP was associated with a significantly higher burden of ultra-rare damaging variants in the DCBLD2 gene (7.6% vs 0.1%, unadjusted OR=79.8, p=2.93×10-7). Plasma DCBLD2 protein levels were significantly higher in RP than in HC (median 4.06 ng/µL vs 0.05 ng/µL, p<0.001). The pathway analysis revealed a statistically significant enrichment of genes in the tumour necrosis factor signalling pathway driven by rare damaging variants in RELB, RELA and REL using higher criticism test weighted by eigenvector centrality.
CONCLUSIONS: This study identified specific rare variants in the DCBLD2 gene as a putative genetic risk factor for RP. These findings should be validated in additional patients with RP and supported by future functional experiments.

BACKGROUND: In patients with tracheobronchial involvement, the differential diagnosis between granulomatosis with polyangiitis (GPA) and relapsing polychondritis (RP) can be challenging. The aim of this study was to describe the characteristics of airway abnormalities on chest computed tomography (CT) in patients with GPA or RP and to determine whether specific imaging criteria could be used to differentiate them.
METHODS: GPA and RP patients with tracheobronchial involvement referred to a national referral center from 2008 to 2020 were evaluated. Their chest CT images were reviewed by two radiologists who were blinded to the final diagnosis in order to analyze the characteristics of airway involvement. The association between imaging features and a diagnosis of GPA rather than RP was analyzed using a generalized linear regression model.
RESULTS: Chest CTs from 26 GPA and 19 RP patients were analyzed. Involvement of the subglottic trachea (odds ratio for GPA=28.56 [95% CI: 3.17; 847.63]; P=0.001) and extensive airway involvement (odds ratio for GPA=0.02 [95% CI: 0.00; 0.43]; P=0.008) were the two independent CT features that differentiated GPA from RP in multivariate analysis. Tracheal thickening sparing the posterior membrane was significantly associated to RP (odds ratio for GPA=0.09 [95% CI: 0.02; 0.39]; P=0.003) but only in the univariate analysis and suffered from only moderate interobserver agreement (kappa=0.55). Tracheal calcifications were also associated with RP only in the univariate analysis (odds ratio for GPA=0.21 [95% CI: 0.05; 0.78]; P=0.045).
CONCLUSIONS: The presence of subglottic involvement and diffuse airway involvement are the two most relevant criteria in differentiating between GPA and RP on chest CT. Although generally considered to be a highly suggestive sign of RP, posterior tracheal membrane sparing is a nonspecific and an overly subjective sign.

Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is an autoinflammatory disease caused by somatic variants in the UBA1 gene that lead to severe systemic inflammation and myelodysplastic syndrome. Although no standard therapy has been established yet, azacitidine and bone marrow transplantation have been reported to be promising possibilities; however, the indications for these treatments are problematic and not necessarily applicable to all patients. We previously reported the results of short-term treatment with tocilizumab (TCZ) and glucocorticoids in three patients with VEXAS syndrome. In this paper, we report that the combination of TCZ and glucocorticoids allowed the patients to continue treatment for at least one year without significant disease progression. Glucocorticoids were able to be reduced from the start of TCZ. Adverse events were herpes zoster, skin ulceration after cellulitis, and decreased blood counts. The results suggest the significance of this treatment as a bridge therapy for the development of future therapies.

BACKGROUND: Relapsing polychondritis (RP) patients with tracheal cartilage involvement are different from other patients. The objective of this study was to compare the clinical features and disease patterns between a respiratory involvement subgroup and a non-respiratory involvement subgroup according to chest computed tomography.
METHODS: We performed a retrospective cohort study collecting RP patients hospitalized at the Beijing Chao-Yang Hospital between January 2012 and August 2021.
RESULTS: Respiratory involvement affected 59.7% of patients in our cohort. The incidence of costochondritis was more common in RP patients with respiratory involvement (p = 0.03); the incidence of inflammatory eye disease (p = 0.001) and auricular chondritis (p = 0.001) was less frequent in RP respiratory involvement patients.. Compared with the non-respiratory involvement subgroup the incidence of pulmonary infection marginally increased in the respiratory involvement subgroup (p = 0.06). Inflammatory indexes except for C-reactive protein to albumin ratio (CAR) were significantly higher in the respiratory involvement subgroup; analysis revealed no significant relationship between inflammatory indexes and pulmonary infection.
CONCLUSIONS: RP patients with respiratory involvement had a greater incidence of costochondritis and pulmonary infectionand lesser incidence of inflammatory eye diseases and auricular chondritis compared to non-respiratory involvement. Increasing inflammatory indexes suggests that patients with respiratory involvement had a higher disease activity index of RP. The difference in probability of survival was insignificant between subgroups.

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Relapsing polychondritis (RPC) is a rare autoimmune disease and its early diagnosis remains challenging. Defining the clinical patterns and disease course may help early recognition of RPC.
Sixty-six males and 60 females were included in this study. The average age at onset were 47.1 ± 13.8 years and the median follow-up period was 18 months. Correlation analysis revealed a strong negative correlation between airway involvement and auricular chondritis (r = - 0.75, P < 0.001). Four distinct clinical patterns were identified: Ear pattern (50.8%), Airway pattern (38.9%), Overlap pattern (4.8%) and Airway-Ear negative pattern (5.6%), and patients with Ear pattern and Airway pattern were further divided into limited and systemic form of RPC (27.8% with limited form of Ear pattern and 24.6% with limited form of Airway pattern initially). During follow-up, a minority of patients with Ear pattern and Airway pattern progressed into Overlap pattern, and some Airway-Ear negative pattern patients progressed into Ear pattern. While a large majority of limited RPC patients remained limited form during follow-up, a minority of limited RPC patients progressed into systemic form. Patients with Ear pattern had the highest survival rate and relatively lower inflammatory status.
RPC patients can be categorized as 4 different clinical patterns and 2 distinct presenting forms (limited and systemic) based on organ involvement. The clinical patterns and presenting forms may evolve during follow-up. Our findings may facilitate early recognition of this rare disease.

The relapsing polychondritis (RP) patients with central nervous system (CNS) involvement were rare. We aimed to determine the clinical characteristics of RP patients with CNS involvement. The clinical data of 181 RP patients, hospitalized at Peking Union Medical College Hospital between December 2005 and February 2019, were collected. The patients were categorized into two subgroups: 25 RP patients with CNS involvement, and 156 RP patients without CNS involvement. The involvement of the ear was more frequent in RP patients with CNS involvement, compared with those of RP patients without CNS involvement (P < 0.01). After controlling sex and the admission age, logistic regression analysis revealed hypertension (odds ratio = 4.308, P = 0.006) and involvement of eye (odds ratio = 5.158, P = 0.001) and heart (odds ratio = 3.216, P = 0.025) were correlated with RP patients with CNS involvement, respectively. In addition, pulmonary infection (odds ratio = 0.170, P = 0.020), tracheal involvement (odds ratio = 0.073, P < 0.01), and involvement of laryngeal (odds ratio = 0.034, P = 0.001), costochondral joint (odds ratio = 0.311, P = 0.013), sternoclavicular joint (odds ratio = 0.163, P = 0.017) and manubriosternal joint (odds ratio = 0.171, P = 0.021) were associated with RP patients without CNS involvement, respectively. In contrast to RP patients without CNS involvement, the incidence of ear involvement was higher in RP patients with CNS involvement. After controlling the potential confounding factor sex and the admission age, hypertension and involvement of eye and heart were related with RP patients with CNS involvement, respectively.

Relapsing polychondritis (RP) is a systemic disease. Failure to recognize RP can lead to diagnostic delay and further complications, including death. This study was undertaken to identify clinical patterns in a prospective cohort of patients with RP.
Patient subgroups were identified using latent class analysis based on 8 clinical variables: saddle-nose deformity, subglottic stenosis, tracheomalacia, bronchomalacia, ear chondritis, tenosynovitis/synovitis, inflammatory eye disease, and audiovestibular disease. Model selection was based on Akaike\'s information criterion.
Seventy-three patients were included in this study. Patients were classified into 1 of 3 subgroups: type 1 RP (14%), type 2 RP (29%), and type 3 RP (58%). Type 1 RP was characterized by ear chondritis (100%), tracheomalacia (100%), saddle-nose deformity (90%), and subglottic stenosis (80%). These patients had the shortest median time to diagnosis (1 year), highest disease activity, and greatest frequency of admission to the intensive care unit and tracheostomy. Type 2 RP was characterized by tracheomalacia (100%) and bronchomalacia (52%), but no saddle-nose deformity or subglottic stenosis. These patients had the longest median time to diagnosis (10 years) and highest percentage of work disability. Type 3 RP was characterized by tenosynovitis/synovitis (60%) and ear chondritis (55%). There were no significant differences in sex, race, or treatment strategies between the 3 subgroups.
Our findings indicate that there are 3 subgroups of patients with RP, with differences in time to diagnosis, clinical and radiologic characteristics, and disease-related complications. Recognizing a broader spectrum of clinical patterns in RP, beyond cartilaginous involvement of the ear and upper airway, may facilitate more timely diagnosis.

Observational study of patients with relapsing polychondritis (RPC) and brief evaluation of widely used diagnostic criteria. A retrospective analysis of 18 patients with RPC treated in the past 15 years at the Charté-Universitätsmedizin Berlin was performed. Three different diagnostic criteria were applied to our cohort. Sensitivities of diagnostic criteria of McAdam et al., Damiani and Levine and Michet et al. were calculated as well as the 5- and 10-year survival. Analysis of diagnostic criteria revealed a sensitivity of 88.9% using Damiani and Levine criteria, 66.7% for Michet et al. and 50% for McAdam et al., respectively. Modifying the criteria of Michet et al. increases the sensitivity to 88.9%. The 5- and 10-year survival were 100 and 90.9%, respectively. Current diagnostic criteria in RPC should be reappraised covering the diversity of clinical findings with the aim to improve clinical care and research in RPC.