成人発症スチル病

BACKGROUND: To evaluate comparative effectiveness of methotrexate (MTX), calcineurin inhibitors (CNI), Janus kinase inhibitors (JAKi), and biologics for the first-line therapies in adult-onset Still's disease (AOSD) in real-world settings. METHODS: Two AOSD cohorts were retrospectively analysed. First, effectiveness of first-line biological versus non-biologic modulator was validated using overlap weighting of propensity scores in the Shanghai AOSD cohort. To compare AOSD treatment strategies (MTX, CNI, JAKi, biologics), we pooled data from the Shanghai and Erlangen cohorts, emulated a target trial, and applied doubly robust weighted regression to adjust for demographic and clinical confounders. The primary outcome was sustained event-free remission over 12 and 72 weeks. RESULTS: 124 AOSD patients were analyzed, 96 from the Shanghai and 28 from Erlangen cohort. In overlap-weighted analyses of Shanghai cohort, biologic was associated with higher sustained event-free remission and event-free state than non-biologic immune modulators (P = 0.0065 and P = 0.0096). In the pooled analysis, biologics were linked to higher likelihood of event-free state and sustained event-free remission at weeks 12 and 72 (all P < 0.05). Pairwise comparisons confirmed the advantage of biologics over CNI (sustained event-free remission at week 72 OR 0.11, p = 0.001), with significant benefits over MTX (OR 0.12, p = 0.002) and JAKi (OR 0.14, p = 0.008) emerging at week 72 for sustained event-free remission, and more frequent glucocorticoid discontinuation than MTX and CNI (both p < 0.05). CONCLUSIONS: First-line biological treatment is associated with improved sustained event-free remission compared to non-biologic treatments, such as MTX, CNI and JAKi and associated with more favorable long-term outcomes in AOSD.

Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is a rare autoinflammatory disorder, and adult-onset cases caused by somatic mosaic TNFRSF1A variants are exceptionally rare. A man in his 60s developed recurrent febrile episodes with rash and polyarthralgia and was initially misdiagnosed with a biliary infection and adult-onset Still's disease. Hybrid capture-based next-generation sequencing identified a somatic mosaic TNFRSF1A variant with a variant allele frequency of 19%, thus establishing the diagnosis of TRAPS. Treatment with canakinumab resulted in complete clinical remission and successful glucocorticoid tapering.

A man in his 80s with chronic obstructive pulmonary disease presented with fever, arthralgia and periorbital erythema resembling a heliotrope rash, accompanied by progressive interstitial lung disease (ILD). Laboratory investigations revealed neutrophilic leucocytosis and markedly elevated C-reactive protein, ferritin and Krebs von den Lungen-6. Dermatomyositis, particularly clinically amyopathic dermatomyositis, was considered in the differential diagnosis; however, myositis-specific autoantibodies were negative and histopathological findings supported a diagnosis of adult-onset Still's disease (AOSD). Despite the high-dose corticosteroids and ciclosporin, lung disease progressed to respiratory failure. Treatment with tocilizumab led to clinical and radiological remission with normalisation of inflammatory markers.This case highlights that AOSD can present with rapidly progressive ILD and closely mimic dermatomyositis, underscoring the importance of careful differential diagnosis and timely cytokine-targeted therapy.

Adult-onset Still's disease (AOSD) is a rare systemic inflammatory disorder characterized by high spiking fevers, arthralgia or arthritis, and a distinctive salmon-colored evanescent rash. Diagnosis is clinical but can pose a challenge for providers given its rarity and variable clinical presentation. Here, the authors present the case of a 58-year-old Caucasian male exhibiting fever, myalgias, hyperferritinemia, polyarthralgia, and diffuse pruritic rash. While a rash is part of the typical presentation for AOSD, the diffuse pruritus seen in this patient is atypical. Several differentials were considered, and infectious, neoplastic, and alternative rheumatologic etiologies were excluded. Despite the pruritic nature of the patient's rash, the Yamaguchi criteria for AOSD was fulfilled. The patient achieved symptomatic improvement after treatment with NSAIDs, antihistamines, and corticosteroids. This case emphasizes the diagnostic challenge AOSD can pose, especially when the presenting symptoms mimic more common conditions such as viral infections, allergic reactions, or autoimmune dermatologic diseases. It reinforces the importance of considering AOSD in the differential diagnosis of patients with persistent fevers, rash, and arthralgia, particularly when infectious and autoimmune workups are unrevealing. Early recognition is crucial, as prompt initiation of therapy can significantly reduce morbidity and prevent complications.

OBJECTIVES: This study aimed to characterize the clinical phenotypes of adult-onset Still's disease-related lung disease (AOSD-LD) in a Chinese cohort, and to evaluate the associations of lung disease and distinct radiographic patterns with macrophage activation syndrome (MAS) and disease relapse. METHODS: In this cohort of 209 patients with AOSD, individuals were retrospectively stratified into AOSD-LD and non-lung disease groups based on radiographic findings. Clinical features associated with AOSD-LD were characterized. Multivariable Cox regression and subgroup analyses were performed to evaluate the impact of AOSD-LD on MAS and disease relapse. AOSD-LD was further categorized into acute exudative, interstitial, and suspected pulmonary hypertension (PH) patterns to assess pattern-specific outcomes. RESULTS: Lung involvement was identified in 49 (23.4%) patients, yet 69.4% were asymptomatic. Pleuritis emerged as the strongest independent risk factors of AOSD-LD (P<0.0001). AOSD-LD was independently associated with both MAS (HR = 2.62, 95% CI: 1.38-4.96, P=0.0041) and disease relapse (HR = 2.66, 95% CI: 1.50-4.71, P=0.0012) in multivariable COX analysis. Radiographically, the acute exudative pattern was most prevalent, followed by interstitial and suspected PH patterns. Prognostic stratification revealed the acute exudative pattern was strongly associated with early MAS development (P=0.0315), whereas the interstitial pattern was associated with a chronic, refractory course (P=0.0059). CONCLUSION: AOSD-LD defines a severe disease phenotype and serves as a critical independent predictor for life-threatening MAS and chronic relapse. Differentiating radiographic patterns offers valuable prognostic insights, underscoring the necessity for chest CT screening and phenotype-guided management strategies in AOSD.