Relapsing polychondritis: Best Practice & Clinical Rheumatology.

Relapsing polychondritis (RP) is an uncommon inflammatory disorder that predominantly targets cartilaginous structures. The disease frequently affects the nose, ears, airways, and joints, but it can also impact organs that aren't primarily cartilage-based, such as blood vessels, skin, inner ear, and eyes. Given its infrequent occurrence and recurrent symptoms, patients often experience delays in proper diagnosis. Lately, based on the organs involved, the disease's diverse manifestations have been categorized into specific clinical groups, based on the most likely organ involvement including auricular, nasal, pulmonary, and musculoskeletal. More recently the discovery of a new disease, called (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) VEXAS syndrome, due to mutations in UBA1 gene, identified the cause of 8 % of the patients with a clinical diagnosis of RP. VEXAS is likely the cause of a previously described "hematologic subgroup" in RP. This discovery is proof of concept that RP is likely more than one disease (Beck et al., Dec 31 2020; Ferrada et al., 2021). People diagnosed with RP face numerous hurdles, with the quality of their lives and overall prognosis being affected. Diagnosing the condition is particularly challenging due to its fluctuating symptoms, the absence of specific markers, and the lack of universally recognized classification criteria. For a correct diagnosis, it's imperative for healthcare professionals to identify its unique clinical patterns. Moreover, there are no approved metrics to gauge the disease's severity, complicating patient management. This review seeks to equip clinicians with pertinent insights to better diagnose and attend to these complex patients.

French practical guidelines for the diagnosis and management of relapsing polychondritis.

Relapsing polychondritis is a rare systemic disease. It usually begins in middle-aged individuals. This diagnosis is mainly suggested in the presence of chondritis, i.e. inflammatory flares on the cartilage, in particular of the ears, nose or respiratory tract, and more rarely in the presence of other manifestations. The formal diagnosis of relapsing polychondritis cannot be established with certainty before the onset of chondritis, which can sometimes occur several years after the first signs. No laboratory test is specific of relapsing polychondritis, the diagnosis is usually based on clinical evidence and the elimination of differential diagnoses. Relapsing polychondritis is a long-lasting and often unpredictable disease, evolving in the form of relapses interspersed with periods of remission that can be very prolonged. Its management is not codified and depends on the nature of the patient's symptoms and association or not with myelodysplasia/vacuoles, E1 enzyme, X linked, autoinflammatory, somatic (VEXAS). Some minor forms can be treated with non-steroidal anti-inflammatory drugs, or a short course of corticosteroids with possibly a background treatment of colchicine. However, the treatment strategy is often based on the lowest possible dosage of corticosteroids combined with background treatment with conventional immunosuppressants (e.g. methotrexate, azathioprine, mycophenolate mofetil, rarely cyclophosphamide) or targeted therapies. Specific strategies are required if relapsing polychondritis is associated with myelodysplasia/VEXAS. Forms limited to the cartilage of the nose or ears have a good prognosis. Involvement of the cartilage of the respiratory tract, cardiovascular involvement, and association with myelodysplasia/VEXAS (more frequent in men over 50years of age) are detrimental to the prognosis of the disease.

Clinical analysis of relapsing polychondritis with airway involvement.

OBJECTIVE: To identify the clinical characteristics, treatment, and prognosis of relapsing polychondritis patients with airway involvement. METHODS: Twenty-eight patients with relapsing polychondritis, hospitalised in the First Hospital of Shanxi Medical University between April 2011 and April 2021, were retrospectively analysed. RESULTS: Fifty per cent of relapsing polychondritis patients with airway involvement had a lower risk of ear and ocular involvement. Relapsing polychondritis patients with airway involvement had a longer time-to-diagnosis (p < 0.001), a poorer outcome following glucocorticoid combined with immunosuppressant treatment (p = 0.004), and a higher recurrence rate than those without airway involvement (p = 0.004). The rates of positive findings on chest computed tomography and bronchoscopy in relapsing polychondritis patients with airway involvement were 88.9 per cent and 85.7 per cent, respectively. Laryngoscopy analysis showed that 66.7 per cent of relapsing polychondritis patients had varying degrees of mucosal lesions. CONCLUSION: For relapsing polychondritis patients with airway involvement, drug treatment should be combined with local airway management.

Subglottic Mass as Isolated Manifestation of Relapsing Polychondritis at Presentation.

Relapsing polychondritis (RP) is a rare systemic disease that is characterized by recurrent episodic inflammation of the cartilaginous structures of the body, resulting in their progressive destruction and subsequent replacement with fibrotic scar. We present a case of RP that initially manifested with subglottic involvement and we propose an innovative strategy for the treatment for laryngeal RP in phase of active inflammation. A multidisciplinary approach (rheumatologist, otolaryngologist, immunologist, internist, cardiologist, etc) and adequate follow-up are essential. The timeliness of the diagnosis is fundamental to contain the destructive effects on the cartilages involved.

Small cell lung cancer with relapsing polychondritis: A report of one case and the review of literature.

The present study reports the clinical data of a patient with small cell lung cancer who developed relapsing polychondritis. We report a case of a 57-year-old female presented with cough, expectoration, and fever. A Computed Tomography (CT) scan performed at the hospital revealed diffuse thickening of bronchial walls in both lungs. Bronchoscopy revealed that the tracheal mucosa was thickened, narrowed, and collapsed, and the bronchoscope could pass through. The bronchial mucosa on both sides was thickened and edematous, the surface was rough, each bronchus was narrow, and the intervertebral ridges were widened. Needle biopsy: considering small cell carcinoma in combination with immunohistochemical results. Her symptom was not improved after anti-infective therapy. The left auricle was red and swollen, the auricle collapsed, and the left eye had subconjunctival hemorrhage during her hospitalization without obvious cause. After multidisciplinary consultation, pulmonary small cell lung cancer cT0N2Mx rumen lymph node metastasis and RP were considered. Treatment: Prednisone, orally for RP. Chemotherapy combined with radiotherapy was given for small cell lung cancer. The chemotherapy regimen was carboplatin combined with etoposide. The patient has already been followed for 1 year after receiving chemoradiotherapy; the condition of the patient is stable at present. Based on the case of our patient, for cases of RP with symptoms such as auricle chondritis, ocular inflammatory disease, and nasal chondritis, we should pay great attention to whether the case is caused by lung cancer with relapsing polychondritis. Because of the rarity of the disease, the clinician should improve the recognition of the disease in order to strive for early diagnosis and therapy.

Case Report: Lessons Learned From Subsequent Autologous and Allogeneic Hematopoietic Stem Cell Transplantations in a Pediatric Patient With Relapsing Polychondritis.

Background: Autologous hematopoietic stem cell transplantation (autoHSCT) is increasingly being recognized as a treatment option for severe refractory autoimmune diseases (AD). However, efficacy is hampered by high relapse rates. In contrast, allogeneic HSCT (alloHSCT) has high potential to cure AD, but is associated with significant morbidity and mortality, and data in AD are limited. Experience with autoHSCT in relapsing polychondritis, a rare episodic inflammatory disorder characterized by destruction of cartilage, is scarce and alloHSCT has not been described before. Case Presentation: Here, we present a case of a 9-year-old girl who was diagnosed with relapsing polychondritis, with severe airway involvement requiring a tracheostomy. The disease proved to be steroid-dependent and refractory to a wide array of disease-modifying anti-rheumatic drugs and biologicals. After an autoHSCT procedure, the disease became inactive for a short period of time, until the patient experienced a relapse after 31 days, accompanied by repopulation of effector/memory CD8+ T cells. Because of persistent inflammation and serious steroid toxicity, including severe osteoporosis, growth restriction, and excessive weight gain, the patient was offered an alloHSCT. She experienced transient antibody-mediated immune events post-alloHSCT, which subsided after rituximab. She ultimately developed a balanced immune reconstitution and is currently still in long-term disease remission, 8 years after alloHSCT. Conclusion: This case adds to the few existing reports on autoHSCT in relapsing polychondritis and gives new insights in its pathogenesis, with a possible role for CD8+ T cells. Moreover, it is the first report of successful alloHSCT as a treatment for children with this severe autoimmune disease.

[Recommendations of diagnosis and treatment of relapsing polychondritis in China].

Relapsing polychondritis is an immune mediated systemic inflammatory disease, involving the cartilaginous and proteoglycan rich structures. The characteristic manifestations were inflammation and deformity of ear and nasal cartilage. Here, Chinese Rheumatology Association summarized manifestations, diagnosis and disease activity index evaluation of relapsing polychondritis, standardized treatment regimens, to improve disease prognosis.

Meningoencephalitis in relapsing polychondritis: A case report.

RATIONALE: Aseptic meningoencephalitis is a rare central nervous system complication of relapsing polychondritis (RP). PATIENT: We report a 61-year-old Japanese male patient with spiking fever and impaired consciousness. Neurological examination revealed meningealirritation, and cerebrospinal fluid (CSF) examination showed lymphocytic pleocytosis with elevated protein (199 mg/dL) and interleukin-6 (3810 pg/mL). Serological analysis showed high levels of anti-type II collagen antibodies, and the result of auricular biopsy was consistent with the diagnosis of RP showing cartilage degeneration surrounded by inflammatory cell infiltrations. DIAGNOSIS: A clinical diagnosis of RP was made according to the diagnostic criteria established by MacAdams et al. INTERVENTION: Steroid pulse therapy (methylprednisolone 1000 mg, consecutive 3 days) followed by oral prednisolone (60 mg/day) resolved the patient's high fever and disturbance of consciousness. OUTCOMES: The patient rapidly improved after steroid treatments and has a normal quality of life under the maintenance dose of steroid plus methotrexate (4 mg/week). LESSONS: RP-associated meningoencephalitis is a rare complication with significant morbidity and mortality. It should be considered and differentiated in patients with RP with unexplained spiking fever and impaired consciousness. In addition, the assessment of cerebrospinal fluid interleukin-6 levels may be useful to investigate the disease activity of RP-related meningoencephalitis. Further prospective studies are required to confirm this result.

Application of extracorporeal membrane oxygenation to treatment of serious tracheal stenosis caused by relapsing polychondritis: a case report and literature review.

Relapsing polychondritis (RP) is a multisystemic rheumatic disease characterized by widespread and potentially destructive inflammatory lesions of the cartilage. The rarity of this disease and the lack of pathological diagnostic laboratory tests can occasionally lead to delayed diagnosis. We herein describe a 51-year-old woman with RP. She was sent to our hospital 4 days after the development of an upper respiratory tract infection with difficulty breathing. Her clinical condition significantly improved after the performance of extracorporeal membrane oxygenation support in an awake state, implantation of a tracheal stent, and administration of steroid therapy. Airway involvement of RP may be life-threatening. In this case, endotracheal intubation would have undoubtedly been very dangerous. Extracorporeal membrane oxygenation can be performed in an awake state to maintain oxygenation and improve the chance of survival.

A 49-Year-Old Man Presents With Fever of Unknown Origin and Cough.

CASE PRESENTATION: A 49-year-old man presented with 3 months of persistent fever, cough, shortness of breath, and chest tightness. He had no response to treatment with antibiotics. He had been treated with an empiric 2-week course of steroids approximately 2 months before presentation, with mild and transient improvement. He did not use tobacco and had not experienced any weight loss, hemoptysis, arthralgia, or myalgia, and was otherwise in good health. He denied contact with anyone with pulmonary TB or other respiratory illnesses.

Policondritis recidivante: manifestaciones clínicas y tratamiento / Recurrent polychondritis. Clinical, diagnosis and treatment

La policondritis recidivante es una enfermedad rara caracterizada por la inflamación recurrente del cartílago y otros tejidos en todo el cuerpo. La afectación del oído es la característica más común, pero puede afectar otras áreas del cuerpo, incluidos el cartílago costal, los ojos, la nariz, las vías respiratorias, el corazón, el sistema vascular, la piel, las articulaciones, los riñones y el sistema nervioso. Los signos y síntomas varían de persona a persona según las partes del cuerpo afectadas. La causa subyacente exacta de la policondritis recidivante se desconoce, aunque los científicos sospechan que se trata de una enfermedad autoinmune. Las complicaciones respiratorias (colapso de la tráquea e infecciones) son la causa más común de muerte, seguidas de la afectación cardiovascular. Los objetivos principales del tratamiento son aliviar los síntomas actuales y preservar la estructura del cartílago afectado. Gracias a las mejoras en el tratamiento, en los últimos años las tasas de supervivencia han aumentado, incluso después de 10 años(AU)

Recurrent polychondritis is a rare condition characterized by recurrent inflammation of cartilage and other tissues throughout the body. Ear involvement is the most common feature, but a variety of other areas of the body may be compromised, including costal cartilage, eyes, nose, airways, heart, vascular system, skin, joints, kidneys and nervous system. The signs and symptoms vary from person to person depending on the body parts affected. The exact underlying cause of recurrent polychondritis is unknown; however, scientists suspect it is an autoimmune condition. The main goals of treatment for people with recurrent polychondritis are to alleviate current symptoms and preserve the structure of the affected cartilage(AU)

A 68-Year-Old Man With Skin Rash and a Pleural Effusion.

CASE PRESENTATION: A 68-year-old man developed an erythematous, papular, pruritic rash on his right thigh 1 month prior to presentation. It subsequently spread to his other extremities and trunk. He also endorsed fevers of > 38.3°C, night sweats, fatigue, shortness of breath, and a dry cough. He was prescribed triamcinolone 0.1% cream for his rash and azithromycin for presumed community-acquired pneumonia, with no improvement in symptoms. He had a history of relapsing polychondritis for which he was prescribed infliximab and low-dose prednisone. He had never smoked tobacco, did not use alcohol or illicit substances, and had no significant travel history.

Tracheobronchial involvement of relapsing polychondritis.

Recent studies show that relapsing polychondritis patients with tracheobronchial involvement are distinct from others in terms of clinical characteristics, therapeutic management, and disease evolution. Tracheobronchial involvement affects 20 to 50% of patients and may reveal the disease. It should be sought at the time of diagnosis and at each follow-up visit. Respiratory impairment is confirmed by computed tomography (CT) of the chest, including the cervical portion of the trachea, with end-inspiratory and dynamic expiratory scans, and pulmonary function tests. These investigations should be performed, even in asymptomatic patients, at the time of diagnosis, and repeated as necessary during follow-up. Bronchoscopy and a fortiori endoscopic intervention should be considered with caution and performed only by expert endoscopists after careful evaluation of the risks and benefits of such procedures, which can lead to damage or perforation of the airways and bronchospasm. Early detection and management of tracheobronchial involvement in relapsing polychondritis has significantly improved the prognosis of patients, especially with the development of interventional fiberoptic bronchoscopy. However, relapsing polychondritis-related morbidity and mortality are still elevated, particularly in tracheobronchial disease.

Clinical Characteristics of Relapsing Polychondritis: A Report of 8 Cases in Japan.

OBJECTIVES: Relapsing polychondritis (RP) is a very rare autoimmune disorder characterized by recurrent episodes of inflammation and destruction of cartilaginous tissues. We examined the clinical characteristics, management, and outcomes of Japanese RP patients. METHODS: We identified 8 RP cases in our department between 2003 and 2017. Detailed clinical features, testing, treatment, and outcomes were recorded. RESULTS: The mean time from symptom onset to diagnosis was 9 months. Four cases presented with auricular chondritis and laryngotracheal involvement and 3 cases presented with a saddle nose deformity. Anti-type II collagen antibody was positive in 5 of 6 cases. Of 3 cases with associated diseases (rheumatoid arthritis, ulcerative colitis, and Sjögren's syndrome), 2 died of respiratory failure. CONCLUSIONS: When RP is diagnosed, early computed tomography or pulmonary function testing is essential to enable early treatment. Undiagnosed airway involvement can cause tracheobronchial wall fibrosis, leading to fixed stenosis.

Idiopathic Sclerosing Orbital Inflammation in a Relapsing Polychondritis Patient With Impaired Vision.

A 55-year-old woman with relapsing polychondritis had progressively enlarged right retro-orbital tumor invading the optic nerve, followed by left retrobulbar infiltrating lesions despite prescription of high-dose corticosteroids and pulse methylprednisolone. Repeated histopathologic analyses showed dense collagen fibers with scanty inflammatory cells, consistent with the diagnosis of idiopathic sclerosing orbital inflammation. This disorder has been recognized as a distinct entity with unique clinical features and coexisting rheumatologic disorders, requiring more focused diagnostic strategies and therapeutic regimens. In summary, we demonstrate a rare ocular manifestation in relapsing polychondritis and emphasize the importance of serial radiological and pathological evaluations in such patients presenting with exophthalmos.