再発性多発軟骨炎

BACKGROUND: As a rare autoimmune disease, relapsing polychondritis (RP) exhibits individual variations in clinical manifestations, treatment response and prognosis. To date, no biomarkers have been implemented to clinical practice.This study aimed to apply cluster analysis to identify the clinical phenotype, clarify their prognosis predictor, and monitor treatment decisions to improve the outcomes of patients. METHODS: A total of 135 RP patients hospitalized in two centers from January 2005 to December 2024 were involved in the study.The K-means clustering algorithm was used as the core clustering tool. The optimal number of clusters(K = 3)was determined through comprehensive evaluation using the Elbow Method and Silhouette Analysis. RESULTS: Cluster analysis identified 3 RP phenotypes.Cluster 1 comprised 45 cases(33.3%),characterized by a hyperinflammatory state and predominant respiratory involvement; Cluster 2 included 11 cases (8.1%),defined by severe and multi-organ involvement Cluster 3 which accounted for 79 cases (58.52%), more than half of the cohort, was predominantly male and exhibited the most favorable prognosis.In contrast, Clusters 1 and 2 were associated with the highest rates of clinical deterioration. CONCLUSIONS: This study confirms that relapsing polychondritis is not a single-dimensional disease, but a clinical syndrome with significant heterogeneity. Random forest analysis further identifies that systemic inflammation markers (CRP, CAR, ESR) and sensory organ involvement (hearing impairment and inner ear dysfunction) as the most critical driving factors for distinguishing these subtypes.

We report the case of a 30-year-old female patient with Crohn's disease who was receiving infliximab and mesalazine therapy. She presented with left ear pain accompanied by bloody diarrhea and abdominal pain. Initial treatment with ciprofloxacin and aluminum acetate was ineffective, requiring hospitalization. She was treated with intravenous meropenem, clindamycin, and prednisolone, which led to symptom resolution after 12 days. However, 7 months later, the patient developed similar symptoms in the right ear without intestinal involvement. She was hospitalized and treated with intravenous antibiotics, followed by prednisolone treatment.

VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a UBA1-driven hemato-inflammatory disorder that mimics relapsing polychondritis, vasculitis, and myelodysplastic syndromes, often causing diagnostic delay. We describe a case presenting with relapsing polychondritis-like features and summarize, through a focused literature review, its diagnostic pathway and therapeutic implications. A 74-year-old man presented with three weeks of fever, auricular and nasal chondritis, iritis, and pulmonary infiltrates. Inflammatory markers were elevated with macrocytic anaemia. Antimicrobial therapy failed, whereas glucocorticoids produced rapid defervescence and clinical improvement. Bone-marrow examination revealed cytoplasmic vacuoles in myeloid precursors with dysplastic features. Sanger sequencing of UBA1 exon 3 on peripheral-blood DNA identified the canonical variant c.122T > C, p.(Met41Thr) as a mixed C/T chromatogram peak at codon 41. At structured 6-month follow-up the patient remained relapse-free on glucocorticoids. The genetic finding nevertheless supported the diagnosis. Diagnostic difficulty arises from clinical heterogeneity. A practical pathway emerges: recognition of relapsing polychondritis and infection presentations, evaluation of macrocytosis and cytopenias, bone-marrow examination for precursor vacuoles, UBA1 sequencing with adequate analytic sensitivity, and exclusion of mimics. Glucocorticoids are first-line; steroid-sparing options-interleukin-1 and interleukin-6 inhibitors, Janus kinase inhibitors, and allogeneic hematopoietic stem cell transplantation-are selected by phenotype, severity, and transplant eligibility. VEXAS syndrome should be suspected in older adults with refractory inflammation and unexplained cytopenias. Early recognition of marrow vacuolization and UBA1 sequencing with adequate analytic sensitivity may shorten diagnostic delay and facilitate risk-adapted treatment.

Orbital inflammation is the most common presentation of VEXAS, with any orbital structure potentially affected. Non-sight-threatening and uncomplicated anterior non-granulomatous uveitis and anterior diffuse scleritis follow in frequency, along with episcleritis. Ophthalmic involvement was significantly associated with relapsing polychondritis (p = 0.014), with an increased chance of a fatal outcome (RR 5.87, p = 0.016) and independently predicts a higher mortality rate (OR 3.72, p = 0.026). Treatment of ophthalmic involvement showed full or partial response to glucocorticosteroids alone in 66.7% of cases. Ophthalmic involvement is common in VEXAS syndrome and signals a poorer prognosis in terms of mortality, highlighting the need for close monitoring.