Polychondritis Research Articles

Mucosa-Associated Lymphoid Tissue Lymphoma as a Rare Mimicker of Relapsing Polychondritis.

Mucosa-associated lymphoid tissue (MALT) lymphoma is a low-grade B cell extranodal lymphoma characterized by clonal marginal zone lymphocyte proliferation. We report a case of MALT lymphoma with a relapsing polychondritis (RP)-like phenotype, manifesting as rapidly progressive tracheal stenosis requiring tracheotomy.

42 Relapsing polychondritis, a case to go back to the basis of difficult airway management

42 Relapsing polychondritis, a case to go back to the basis of difficult airway management

Evaluation of Semicircular Canal Function in Relapsing Polychondritis Patients With Dizziness and Sensorineural Hearing Loss Using Video Head Impulse Test.

To evaluate semicircular canal function using video head impulse test (vHIT) in relapsing polychondritis (RP) patients presenting with dizziness and sensorineural hearing loss. Retrospective case review. Tertiary referral center. Three patients with RP underwent vHIT and hearing tests. Diagnostic. The gain in vestibulo-ocular reflex (VOR) and the presence of catch-up saccade were examined, and the correlation between semicircular canal dysfunction and hearing loss was investigated. Of the six ears, five exhibited semicircular canal dysfunction. Among these, one ear showed dysfunction in two semicircular canals, while the remaining four ears demonstrated dysfunction in all three semicircular canals. Sensorineural hearing loss, ranging from moderate to profound, was detected by pure-tone audiometry in all six ears. Furthermore, a significant correlation was observed between VOR gain in the horizontal semicircular canal (HSC) and hearing level. This study demonstrated semicircular canal dysfunction in RP patients presenting with dizziness and hearing loss using vHIT. Moreover, a significant correlation was found between HSC dysfunction and the severity of hearing loss. While inner ear involvement is a key clinical symptom included in the diagnostic criteria for RP, there have been few reports evaluating vestibular dysfunction, and this is the first report on the evaluation of several cases using vHIT. Accurate assessment of vestibular function by vHIT may facilitate early diagnosis and intervention in RP, potentially improving patient outcomes.

FDG PET/CT in an Interesting Case of Paraneoplastic Relapsing Polychondritis Associated With Adenocarcinoma of the Lung.

Relapsing polychondritis (RP) is an uncommon autoimmune disease that causes inflammation of the cartilage and proteoglycan-rich structures, including the ear, nose, and airway. Paraneoplastic RP is a subset of RP that occurs in some individuals following the detection and treatment of certain types of cancers. FDG PET/CT helps with early diagnosis of RP, identifying inflammatory areas even in the absence of symptoms, and guiding the selection of appropriate biopsy sites. Here, we present a case of adenocarcinoma of the lung presenting with paraneoplastic symptoms of RP as initial presentation, and symptoms were resolved after 3 cycles of chemotherapy.

Relapsing Polychondritis Masquerading as Auricular Pseudolymphoma: Case Report and Literature Review

Relapsing Polychondritis (RP) is a rare autoimmune disease associated with recurring inflammatory episodes predominantly affecting cartilage and other tissues throughout the body, including proteoglycan-rich structures. It is characterized by gradual deformation of tissue that leads to impairment of normal function. Areas involved include, but are not limited to, the respiratory tract, eyes, nose, joints, and vascular system. The inflammation targets cartilage, most commonly causing auricular and nasal chondritis but can involve cartilage throughout the body. Diagnosis of RP is often hindered by the vast variety of symptoms associated with this systemic disease and subtle symptomatology. In this paper, we demonstrate a case of relapsing polychondritis masquerading as pseudolymphoma and review recent literature relating to pathogenesis, diagnosis and treatment.

A multicenter study of long-term outcomes of relapsing polychondritis in Iran

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.

Nonendemic rhinoscleroma: An unusual manifestation of the trachea.

Rhinoscleroma is classically described as a chronic granulomatous disease caused by Klebsiella rhinoscleromatis which primarily affects the nose and nasopharynx. When present, tracheal manifestations will be seen late in the disease course rather than on initial presentation. We describe a rare case of nonendemic rhinoscleroma that presented with tracheal lesions as an initial manifestation of disease. Case report and literature review. An 88-year-old male presented with longstanding dysphonia. Flexible laryngoscopy demonstrated a septal perforation and diffuse glottic lesions. CT neck demonstrated a nonobstructive polypoid tracheal lesion and mucosal thickening of the paranasal sinuses. Biopsy confirmed an atypical lympho-histiocytic proliferation and microorganisms within macrophages on Grocott methenamine silver and Steiner stains consistent with rhinoscleroma. He was referred for rheumatology and pulmonology consultation. Systemic diseases rarely affect the trachea, and even less frequently is a tracheal lesion identified as the initial manifestation of disease. The most common systemic diseases that affect the trachea include relapsing polychondritis, granulomatosis with polyangiitis, amyloidosis, and inflammatory bowel disease. The literature surrounding nasolaryngotracheal rhinoscleroma is limited, especially in nonendemic areas. It is necessary to include unusual etiologies of airway lesions in the differential diagnosis, which warrants comprehensive airway evaluation including biopsy. 4.

A case of third molar extraction in a patient with relapsing polychondritis

A case of third molar extraction in a patient with relapsing polychondritis

Exploring Reproductive Experiences With Women Enrolled in the International Vasculitis Pregnancy Registry.

This study explored the reproductive journeys of women with vasculitis, including their conversations with healthcare providers, disease activity, medication changes, and delivery experiences. Interviews were conducted with women registered in the Vasculitis Pregnancy Registry (VPREG), an online patient-reported registry of pregnant women with vasculitis. A team of physicians, patients, and qualitative researchers developed a qualitative interview guide. Participant responses were evaluated using thematic analysis. Eighteen patients with vasculitis who had experienced pregnancy were interviewed (10 antineutrophil cytoplasmic antibody-associated vasculitis, 4 Takayasu arteritis, 2 Behçet disease, 1 IgA vasculitis, 1 relapsing polychondritis). Thematic analysis revealed common experiences in the decision-making process during pregnancy planning, including accessing information from multiple sources, communicating with medical professionals, and changing treatment for vasculitis. Women sought information about vasculitis and pregnancy from various sources, including social media; however, opinions from their physicians and family members were most influential. Patients were more likely than providers to initiate conversations regarding family planning. Balancing differing opinions from subspecialists was challenging as many patients recalled acting as a liaison between multiple physicians during pregnancy. The need for self-advocacy was a common experience among patients. Most women had pregnancies that resulted in live births with delivery at term. When making decisions about pregnancy, women of reproductive age with vasculitis used multiple resources. Patients consistently valued their medical provider's opinion over alternative sources of information. To ensure comprehensive medical care, half of women relied on self-advocacy to coordinate communication among subspecialists. Most women had pregnancies that resulted in live births with delivery at term.

A rare post-infectious autoimmune manifestation of COVID-19

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.

Relapsing polychondritis: clinical updates and new differential diagnoses.

Relapsing polychondritis is a rare inflammatory disease characterized by recurrent inflammation of cartilaginous structures, mainly of the ears, nose and respiratory tract, with a broad spectrum of accompanying systemic features. Despite its rarity, prompt recognition and accurate diagnosis of relapsing polychondritis is crucial for appropriate management and optimal outcomes. Our understanding of relapsing polychondritis has changed markedly in the past couple of years with the identification of three distinct patient clusters that have different clinical manifestations and prognostic outcomes. With the progress of pangenomic sequencing and the discovery of new somatic and monogenic autoinflammatory diseases, new differential diagnoses have emerged, notably thevacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS)syndrome, autoinflammatory diseases and immune checkpoint inhibitor-related adverse events. In this Review, we present a detailed update of the newly identified clusters and highlight red flags that should raise suspicion of these alternative diagnoses. The identification of these different clusters and mimickers has a direct impact on the management, follow-up and prognosis of patients with relapsing polychondritis and autoinflammatory syndromes.

Relapsing polychondritis (clinical observations)

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.

P015 Nodular skin rash associated with relapsing polychondritis, a challenging diagnostic journey to VEXAS syndrome

Abstract Background/Aims VEXAS syndrome, first described in 2020, is a haemato-inflammatory disease caused by a mutation in the gene-UBA1.This syndrome can coexist with or without Myelodysplastic syndrome. What makes this case interesting is its long and challenging diagnostic journey and the involvement of different clinical specialties such as dermatology, ophthalmology, rheumatology, respiratory, haematology, and stroke teams. Ultimately, two years after the initial presentation, this appeared to be the first case of VEXAS with confirmed genetic mutation in the region. VEXAS being a relatively new entity, treating clinician/s were not aware of the possibility initially. Therefore, spreading awareness regarding the clinical picture of VEXAS is prudent. This case report highlights rheumatological and dermatological manifestations of the disease to aid in the timely diagnosis and management of future cases. Methods We report a 74-year-old previously healthy male presented in 2021 with a rash on his legs, arms, and torso since October 2019. It was progressive, painful, palpable, erythematous, non-pruritic, intermittent rash, cleared with hyperpigmentation. He also had oligoarticular arthritis, constitutional symptoms, recurrent episodes of polychondritis, uveitis, bibasal lung fibrosis, and an ESR and CRP above 100. He also had lymphadenopathy above the diaphragm, but the biopsy only showed necrotic material, and the bone marrow biopsy did not show any features of haematological malignancy. After excluding infections, he was started on high-dose oral prednisolone for relapsing polychondritis. The skin and inflammatory markers improved immediately following high doses of steroids. However, whenever steroids were weaned down, even with the help of Methotrexate, his skin was flaring. He also had unprovoked DVT and, while on anticoagulation, developed occipital infarction. He had extensive skin involvement when he had to stop Methotrexate following a chest infection. Results The skin biopsy was inconclusive. There was no significant cytopenia but persistent macrocytosis even after stopping Methotrexate. As a result, he underwent a repeat bone marrow biopsy, which showed Vacuoles and gene UBA1 mutation in 2023. Conclusion The heterogeneity and complexity of the disease are due to multi-organ involvement, including skin, joints, eyes, lungs, blood vessels, and cartilage, simultaneously or cumulatively. Skin involvement in VEXAS can also be vast, ranging from neutrophilic dermatosis, erythema nodosum-like lesions, leukocytoclastic, or urticarial vasculitis. Cutaneous manifestations develop in the majority with VEXAS syndrome and can be the first presenting symptom in this new rare syndrome. Disclosure M. Gunawardena: None. L. Yalakki: None. R. Moitra: None. E.L. Williams: None. H. Wong: None. D. D'Cruz: None.

An Unusual Chorioretinal Manifestation of Relapsing Polychondritis Coexisting with Scleritis: A Case Report

Purpose: To report an atypical chorioretinal manifestation concomitant with severe scleritis in a patient diagnosed with relapsing polychondritis. Methods: A 53-year-old male, with a six-month history of recurrent bilateral auricular cartilage inflammation was admitted to our hospital. Clinical and pathological examinations of the auricular cartilage led to the diagnosis of relapsing polychondritis. Results: Ophthalmological examination revealed a localized elevation in the superonasal quadrant of the left fundus, where the scleritis was more severe than in other regions. B-mode ultrasonography revealed choroidal thickening and subretinal lesions in this area, along with a white retinal lesion identified during the fundus examination. Further investigation using optical coherence tomography (OCT) unveiled subretinal and retinal lesions in the same region, with dispersed cells into the vitreous cavity in a fountain-like pattern. After treatment with systemic corticosteroids and cyclophosphamide, there was an improvement in scleritis, conjunctivitis, and retinal vasculitis; however, the white retinal lesion progressed to retinal atrophy. Concurrently, a decrease in the number of vitreous cells emanating from the area of fountain-like leakage was noted. Conclusions: Retinal manifestations of relapsing polychondritis are underrepresented in the literature. This report presents a unique case of relapsing polychondritis with a localized retinal manifestation observed on OCT imaging, thereby broadening our understanding of the potential localized retinal presentations associated with this disease.

387 The kidney and ear connection: Crescentic glomerulonephritis associated with relapsing polychondritis

387 The kidney and ear connection: Crescentic glomerulonephritis associated with relapsing polychondritis

Orbital/ocular inflammatory involvement in VEXAS syndrome: Data from the international AIDA network VEXAS registry

VEXAS syndrome is a recently described monogenic autoinflammatory disease capable of manifesting itself with a wide array of organs and tissues involvement. Orbital/ocular inflammatory manifestations are frequently described in VEXAS patients. The objective of this study is to further describe orbital/ocular conditions in VEXAS syndrome while investigating potential associations with other disease manifestations. In the present study, twenty-seven out of 59 (45.8 %) VEXAS patients showed an inflammatory orbital/ocular involvement during their clinical history. The most frequent orbital/ocular affections were represented by periorbital edema in 8 (13.6 %) cases, episcleritis in 5 (8.5 %) patients, scleritis in 5 (8.5 %) cases, uveitis in 4 (6.8 %) cases, conjunctivitis in 4 (6.8 %) cases, blepharitis in 3 (5.1 %) cases, orbital myositis in 2 (3.4 %) cases. A diagnosis of systemic immune-mediated disease was observed in 15 (55.6 %) cases, with relapsing polychondritis diagnosed in 12 patients. A significant association was observed between relapsing polychondritis and orbital/ocular involvement in VEXAS syndrome (Relative Risk: 2.37, 95 % C.I. 1.03–5.46, p = 0.048). Six deaths were observed in the whole cohort of patients after a median disease duration of 1.2 (IQR=5.35) years, 5 (83.3 %) of which showed orbital/ocular inflammatory involvement. In conclusion, this study confirms that orbital/ocular inflammatory involvement is a common finding in VEXAS patients, especially when relapsing polychondritis is diagnosed. This makes ophthalmologists a key figure in the diagnostic process of VEXAS syndrome. The high frequency of deaths observed in this study seems to suggest that patients with orbital/ocular involvement may require increased attention and more careful follow-up.

Unusual cause of the left main bronchus stenosis: relapsing polychondritis.

Relapsing polychondritis is a rare disease that causes inflammation and destruction of cartilage and connective tissue. It can be associated with other autoimmune rheumatologic and hematologic diseases. Herein, we report a 38-year-old male patient with relapsing polychondritis and diffuse stenosis of the left main bronchus.

JANUS KINASE INHIBITORS FOR RELAPSING POLYCHONDRITIS TREATMENT: A HYPOTHESIS

Relapsing polychondritis (RP) is a rare autoimmune disease marked by recurrent episodes of inflammation impacting cartilaginous structures. The underlying mechanism has not been fully elucidated; however, comprehensive genetic and histopathological evaluations have revealed the involvement of specific genes, cell-mediated immunity, and humoral immunity in the pathogenesis of RP. The spectrum of symptoms associated with this condition ranges from mild manifestations to severe, life-threatening presentations. Treatment options vary depending on the disease severity. Non-steroidal anti-inflammatory drugs, colchicine, dapsone, and systemic corticosteroids are commonly utilized as first-line therapeutic options. Furthermore, cyclophosphamide, methotrexate, azathioprine, cyclosporine, and biological disease-modifying anti-rheumatic drugs are employed as second-line treatment. Nevertheless, there is insufficient data regarding the use of Janus kinase inhibitors (JAKi) in RP patients as a treatment option. This hypothesis suggests that JAKi may be a viable treatment option for relieving symptoms in these patients.

Decoding the impact of autoinflammatory/autoimmune diseases on inner ear harmony and hearing loss

Autoimmune and autoinflammatory diseases affecting the inner ear can cause symptoms such as hearing loss, imbalance, vertigo, and tinnitus, presenting demanding and often underdiagnosed conditions. Diagnostic challenges arise due to their diverse manifestations, potential long-term consequences, and the absence of specific serological markers, necessitating a multidisciplinary approach combining clinical evaluation, audiological assessments, and imaging techniques. Various autoimmune disorders, including systemic lupus erythematosus, rheumatoid arthritis, and Sjogren’s syndrome, have been implicated in immune-mediated damage to auditory structures, resulting in inner ear dysfunction. Inflammatory processes in autoinflammatory diseases like Cogan’s syndrome and relapsing polychondritis can also affect the inner ear. While the exact mechanisms of inner ear involvement in these conditions are still being studied, immune-mediated inflammation, damage to auditory structures, and vascular involvement play significant roles in auditory impairments. Treatment strategies primarily focus on immunomodulation and inflammation control using corticosteroids, immunosuppressants, and targeted biologic agents to ameliorate symptoms and preserve hearing function. Hearing aids and cochlear implants may be also considered for severe hearing loss. Individualized approaches are necessary due to patient response heterogeneity. This review provides a concise overview of key autoimmune and autoinflammatory diseases impacting the inner ear, highlighting clinical manifestations, diagnostics, pathophysiology, and treatment options. Early recognition and appropriate management are crucial for optimizing patient outcomes. Further research is needed to understand underlying mechanisms and identify novel therapeutic targets. Collaboration between otolaryngologists, rheumatologists, and immunologists is crucial for improving the quality of life in these complex conditions.

Decoding the impact of autoinflammatory/autoimmune diseases on inner ear harmony and hearing loss

Autoimmune and autoinflammatory diseases affecting the inner ear can cause symptoms such as hearing loss, imbalance, vertigo, and tinnitus, presenting demanding and often underdiagnosed conditions. Diagnostic challenges arise due to their diverse manifestations, potential long-term consequences, and the absence of specific serological markers, necessitating a multidisciplinary approach combining clinical evaluation, audiological assessments, and imaging techniques. Various autoimmune disorders, including systemic lupus erythematosus, rheumatoid arthritis, and Sjogren’s syndrome, have been implicated in immune-mediated damage to auditory structures, resulting in inner ear dysfunction. Inflammatory processes in autoinflammatory diseases like Cogan’s syndrome and relapsing polychondritis can also affect the inner ear. While the exact mechanisms of inner ear involvement in these conditions are still being studied, immune-mediated inflammation, damage to auditory structures, and vascular involvement play significant roles in auditory impairments. Treatment strategies primarily focus on immunomodulation and inflammation control using corticosteroids, immunosuppressants, and targeted biologic agents to ameliorate symptoms and preserve hearing function. Hearing aids and cochlear implants may be also considered for severe hearing loss. Individualized approaches are necessary due to patient response heterogeneity. This review provides a concise overview of key autoimmune and autoinflammatory diseases impacting the inner ear, highlighting clinical manifestations, diagnostics, pathophysiology, and treatment options. Early recognition and appropriate management are crucial for optimizing patient outcomes. Further research is needed to understand underlying mechanisms and identify novel therapeutic targets. Collaboration between otolaryngologists, rheumatologists, and immunologists is crucial for improving the quality of life in these complex conditions.