ARP Rheumatology最新文献

Introduction: Apart from exocrine glands involvement with sicca symptoms, several extra-glandular manifestations can occur in Sjögren's disease (SjD) such as pulmonary manifestations. Interstitial lung disease (ILD) is the most common lung manifestation in SjD. We aim to evaluate the presence of ILD in a national cohort of patients with SjD, identify variables associated with its development and progression, as well as describe the treatment used for SjD-ILD and its effectiveness and tolerability.

Methods: We conducted an observational multicenter study of SjD-ILD patients prospectively followed in Reuma.pt. Demographic and clinical data were collected. We compared patient characteristics between groups using Chi-square or Fisher's exact test, Mann-Whitney or independent samples t-test, as appropriate. Logistic regression analysis was used to identify predictors of SjD- ILD. A linear mixed model with random intercept was used to compare results from pulmonary function tests (PFTs) before and after immunosuppression initiation.

Results: Of the 1532 patients enrolled in the Reuma.pt-SjD protocol, 1333 (87%) had information on the presence of pulmonary manifestations. Among these, 127 (9.5%) had documented lung involvement, with ILD being the most common manifestation (74%). Ever smoking (OR=2.175; [95%CI:1.214-3.899]; p=0.009) and older age at SjD diagnosis (OR=1.047 per year; [95%CI:1.025-1.069]; p<0.001) were predictors of ILD. Nonspecific interstitial pneumonia was the most frequent ILD pattern (45.7%). Immunosuppression was used in 62 (66%) SjD-ILD patients and antifibrotics in eight patients (in seven of them in association with immunosuppression). Among the 26 patients with serial PFTs available, 10 (38.5%) showed ILD progression. Progressors had a higher forced vital capacity (FVC 96.8 ± 22.1 vs. 71.1 ± 21.4%; p=0.007) and diffusion capacity for carbon monoxide (DLCO 75.5 ± 12.1 vs. 50.2 ± 16.6%; p=0.002) at baseline and tend to have hypergammaglobulinemia more often (80% vs. 43.8%; p=0.069). Nevertheless, immunosuppression interrupted the decline of FVC (absolute value) and DLCO (percent predicted).

Conclusion: This work demonstrated that a substantial proportion of SjD-ILD patients present with progressive fibrosis. Immunosuppression seems to delay the progression of lung disease. Therefore, identifying predictors for ILD development and progression is essential for recognizing which patients will require closer monitoring and intervention.

Aims: Methotrexate (MTX) is a basic therapy for juvenile idiopathic arthritis (JIA). MTX intolerance can significantly impact quality of life, treatment adherence and outcomes. We aimed to assess the prevalence of MTX intolerance and to identify clinical factors associated with intolerance in children and adolescents with JIA.

Methods: This cross-sectional study was conducted at a large pediatric rheumatology referral center between July 2019 and July 2021. It included 94 patients with JIA, aged up to 19 years, who had been treated with MTX (oral or subcutaneous) for at least three months. Patients with systemic JIA and those exhibiting toxic MTX effects were excluded. Demographic and clinical data were collected, and MTX intolerance was assessed using the Methotrexate Intolerance Severity Score (MISS) questionnaire. MTX intolerance was defined as a total MISS score of ≥6, including at least one anticipatory, associative, or behavioral symptom. Statistical analyses were performed to compare MTX-tolerant and MTX-intolerant groups.

Results: The median patient age was 9.9 years (range 2.3-18.5 years), and 69 (73.4%) were female. The median age at disease onset was 3.7 years, and the median duration of MTX therapy was 2.3 years. The prevalence of MTX intolerance was 24.5%. The most common symptom was nausea after MTX intake (38.3%), followed by behavioral problems such as irritability or restlessness. Intolerant patients were significantly older at disease onset and MTX initiation (U=577.0, p=0.04 and U=555.5, p=0.02, respectively), and MTX as first-line therapy was more frequent in this group (X2=5.78, p=0.02). There was a strong positive correlation between age at disease onset and MTX initiation (r=0.9, p<0.001).

Conclusions: MTX intolerance is relatively common in pediatric patients with JIA and is associated with older age at disease onset and MTX initiation, as well as the use of MTX as first-line therapy.

Alkaptonuria is a rare autosomal recessive disorder caused by homogentisic acid dioxygenase deficiency, leading to ochronotic pigment deposition in connective tissues and secondary osteoarthritis. We report the case of a 59-year-old female with longstanding shoulder, spine, and hip pain, diagnosed with alkaptonuria at age 45. Imaging revealed generalized osteoarthritis, most severe in the lumbar spine and right hip. Despite multimodal management, hip pain progressed, requiring total hip replacement with significant functional improvement. The surgical specimen revealed characteristic dark-bluish ochronotic pigmentation of the femoral head. This vignette highlights the disabling musculoskeletal manifestations of alkaptonuria and the need for timely recognition and surgical management in advanced disease.

Background: Psoriatic arthritis (PsA) is a chronic inflammatory disease that affects joints, skin, and other structures. Guselkumab, an IL-23 inhibitor, has shown efficacy in clinical trials, but real-world data on its long-term use in PsA are limited. This study aimed to assess the efficacy, safety, and retention rate of guselkumab in a real-world cohort of PsA patients over 12 months.

Methods: This retrospective study included PsA patients treated with guselkumab for at least 12 months across three medical centers. Patients were assessed at baseline and at 12 months using PsA disease activity scores. Retention rate at 12 months and reasons for discontinuation were recorded. Statistical analyses included descriptive statistics, Mann-Whitney tests for changes in disease activity, and Cox regression for identifying factors associated with treatment discontinuation.

Results: We included 70 PsA patients. Significant reductions in disease activity were observed at 12 months for DAS28, DAPSA, MASES and ASDAS. The 12-month retention rate was 79%, with discontinuation primarily due to inefficacy. No significant adverse events were reported. Cox regression analysis found no significant associations between baseline characteristics and treatment discontinuation.

Conclusions: Guselkumab demonstrated significant efficacy in reducing disease activity and a favorable retention rate over 12 months in a real-world PsA cohort. These findings support guselkumab as an effective treatment for PsA, although further prospective studies are needed to confirm long-term safety and efficacy.

A 42-year-old female patient was referred for rheumatology evaluation due to suspected sacroiliitis, incidentally detected on a pelvic computerized tomography (CT). Her medical history was notable for chronic kidney disease (CKD) complicated with tertiary hyperparathyroidism. A few months before rheumatologic evaluation, she underwent total parathyroidectomy. CT imaging was reviewed revealing prominent erosions of the iliac articular surfaces of the sacroiliac joints. Given the absence of inflammatory low back pain and the patients history of severe hyperparathyroidism, the sacroiliac changes were interpreted as most likely secondary to metabolic bone disease rather than inflammatory spondyloarthropathy. CT findings in hyperparathyroidism may include widening of joint spaces and irregularity of the articular surfaces. Involvement of the sacroiliac joints often manifests as erosions on the iliac sides, occasionally accompanied by reactive sclerosis. These features can mimic those seen in spondylarthritis, making the differential diagnosis challenging.

Eosinophilic granulomatosis with polyangiitis (EGPA) is a disease characterized by vasculitis affecting small blood vessels, primarily in the lungs, skin, and peripheral nervous system. Both rituximab and mepolizumab are recommended for EGPA treatment, but their combined use is uncommon. There have been only a few reported cases of using both drugs together. We present a 46-year-old man with a history of asthma and chronic rhinosinusitis presented with dyspnea, numbness in the feet, and skin lesions. He was diagnosed with ANCA-negative EGPA and treated with corticosteroids and immunosuppressants. Despite initial improvement, he developed respiratory symptoms and osteoporosis. Treatment with mepolizumab helped reduce corticosteroid dosage but was not effective in joint involvement. A combination of mepolizumab and rituximab was then initiated, resulting in significant improvement in joint symptoms and overall disease control. This case demonstrates the challenges of managing EGPA and the need for tailored treatment approaches. The combination of rituximab and mepolizumab proved effective in controlling different disease manifestations. Further studies are needed to evaluate the safety and efficacy of this combination therapy in EGPA.

Pemphigus foliaceus (PF) is a rare autoimmune blistering disease, occasionally associated with lymphoproliferative disorders. Urticarial vasculitis (UV) is classified as normocomplementemic or hypocomplementemic (HUV), the latter linked to systemic involvement and increased risk of malignancy. We present a rare case of atypical HUV syndrome in a 55-year-old female with a 24-year history of PF. She presented with recurrent heat, redness, and discoloration of the right hand. Examination revealed an erythematous-violaceous, edematous lesion with irregular but well-defined borders over the thenar region, without urticarial lesions. Laboratory evaluation showed marked hypocomplementemia (C3 0.73 g/L, C4 0.01 g/L), thrombocytopenia (32×10³/µL), leukocytosis, and positive ANA. Hepatomegaly was noted on systemic examination. Hematology consultation revealed a CD5-negative, CD19-positive B-cell lymphoproliferative disorder. Genetic testing excluded hereditary cancer mutations. This case underscores the clinical importance of recognizing atypical HUV presentations without urticaria and highlights the association of hypocomplementemia and thrombocytopenia with underlying hematologic malignancy. In patients with autoimmune background and cutaneous vasculitic lesions, hematologic malignancies should be considered, and thorough evaluation is essential to exclude paraneoplastic processes.

Calcium pyrophosphate deposition (CPPD) disease is a common microcrystalline arthropathy in the elderly, The clinical spectrum includes both acute and chronic inflammatory arthritis, but crystals depositions may also occur without symptoms, with chondrocalcinosis identified incidentally on imaging. Axial involvement is less frequent than peripheral but has been increasingly recognized, particularly in the cervical spine. Its manifestations are heterogeneous and may mimic infectious, inflammatory, neoplastic or degenerative disorders, often leading to misdiagnosis. We report four cases of cervical CPPD disease that exemplify the main clinical phenotypes, from incidental crystals deposition to crowned dens syndrome, retro-odontoid pseudotumor and inflammatory discitis. They illustrate the diversity of cervical involvement and its potential for severe neurological complications. Diagnosis relies on clinical evaluation supported by imaging, with CT being the modality of choice for detecting calcifications, and MRI useful for assessing soft tissue masses, cord compression, or discitis changes. Management remains symptomatic, mainly with colchicine, glucocorticoids or NSAIDs, while surgery may be required in severe myelopathy. Awareness of cervical CPPD is essential to avoid unnecessary antibiotics or invasive procedures and to ensure timely and targeted management.

Background: Gorham-Stout syndrome (GSS is ana rare disorder characterized by progressive osteolysis of unclear aetiology. It can affect various bone sites, with variable clinical presentations, being bilateral hip involvement particularly uncommon.

Case presentation: We report the case of a 54-year-old woman with morbid obesity and type 2 diabetes, with hip and knee osteoarthritis. For over two years, she experienced progressive bilateral hip pain and gait limitation. Plain radiographs revealed bilateral resorption of the femoral heads, absent in previous radiograms. Computed tomography showed severe acetabular dysplasia with deformity and resorption of both femoral heads. Magnetic resonance imaging confirmed bone loss and bone marrow infarction. There were no clinical or analytical features suggestive of inflammatory arthropathy, nor phospho-calcium metabolism disorder apart from vitamin D deficiency. Based on the radiological and clinical findings, a diagnosis of Gorham-Stout syndrome was considered.

Conclusion: This case illustrates a rare and unusual presentation of GSS with bilateral hip involvement. Due to its rarity and non-specific clinical features, GSS is often a diagnosis of exclusion. Reporting such cases is essential to increasing awareness of this rare condition.