ARP Rheumatology最新文献

Introduction: This study aims to delineate the sociodemographic, clinical, and laboratory characteristics of juvenile-onset systemic lupus erythematosus (jSLE) patients.

Materials and methods: Retrospective data from jSLE patients treated at Ümraniye Training and Research Hospital's pediatric rheumatology unit between January 2017 and February 2024 were collected. Inclusion criteria comprised meeting at least four of the American College of Rheumatology (ACR) criteria for systemic lupus erythematosus (SLE) classification and being under 18 years old at disease onset.

Results: The study encompassed 69 jSLE patients, with a female-to-male ratio of approximately 3.9:1 and a median diagnosis age of 14.5 (min:2, max:17.5) years. Musculoskeletal symptoms, nephropathy, malar rash, and hematologic abnormalities were predominant clinical features. Thirty-seven patients exhibited renal involvement, 36 presented hematological complications, and 23 had both. Overall, 76.8% of patients demonstrated major organ system involvement. A statistically significant association was observed between renal involvement and initial Anti-double-stranded deoxyribonucleic acid antibody presence (p=0.036) and SLE Disease Activity Index-2000 (SLEDAI-2K) scores (p=0 and p=0.003 at diagnosis and latest visit). Significant associations were observed between follow-up duration, SLEDAI-2K at first visit scores, treatment modalities (pulse methylprednisolone, mycophenolate mofetil and rituximab), and remission subtypes in patients with jSLE. Shorter follow-up periods and lower initial SLEDAI-2K scores were linked to better remission outcomes.

Conclusions: This study found that jSLE mainly affects female patients, with musculoskeletal, renal, and hematologic involvement being the most common manifestations. Renal involvement is associated with initial anti-dsDNA positivity and SLEDAI-2K scores. The study also found that better remission outcomes are linked to lower initial disease activity and longer follow-up periods.

The recently published 2023 ACR/EULAR classification criteria for antiphospholipid syndrome (APS) aim to improve specificity by refining obstetric and serological definitions. We retrospectively reclassified 30 pregnancies fulfilling the Sydney criteria at a Portuguese tertiary multidisciplinary clinic. Twenty-one (70%) met the new criteria, which favored younger patients with high-risk serological profiles (notably lupus anticoagulant and triple positivity). However, obstetric APS cases declined from 8 to 2, excluding women with recurrent early losses or isolated IgM positivity, despite comparable outcomes under prophylactic therapy. These findings highlight that stricter criteria may reduce sensitivity for clinically relevant obstetric APS phenotypes.

Whipple's disease (WD) is a rare chronic infection caused by Tropheryma whipplei, often presenting initially with musculoskeletal (MSK) manifestations that precede gastrointestinal (GI) or systemic symptoms by years. Its protean features and response to immunosuppression make it a diagnostic challenge in rheumatology. We conducted a national, multicenter, retrospective study of WD cases initially assessed for suspected rheumatic disease in Portuguese Rheumatology departments. Diagnosis was confirmed by duodenal histopathology and/or polymerase chain reaction (PCR) detection of T. whipplei. Demographic, clinical, laboratory, and therapeutic data were analyzed descriptively. Seven patients were identified (71.4% male; mean age 59.9 ± 8.2 years). The median diagnostic delay from MSK symptom onset was 4 years. MSK presentations included migratory arthritis/arthralgia (n=4), polymyalgia rheumatica-like symptoms (n=1), asymmetric sacroiliitis (n=1), and rheumatoid arthritis mimics (n=2). GI symptoms occurred in 57.1% and systemic manifestations in 85.7%, all with weight loss. One patient had central nervous system involvement. All showed anemia and elevated inflammatory markers. The median interval between MSK and extra-articular symptoms was 2.6 years. Five patients received immunosuppressive therapy; notably, earlier systemic/GI involvement occurred in those without such exposure, while the only patient treated with biologics did not develop extra-articular symptoms. WD may mimic diverse rheumatic diseases, causing diagnostic delay. A high index of suspicion is warranted in patients with refractory rheumatic symptoms, anemia, and weight loss. The observed variability in systemic progression highlights a potentially complex relationship between immunosuppression and host immune response to T. whipplei, warranting further investigation.

Background: Methotrexate (MTX) is the anchor and most prescribed disease-modifying anti-rheumatic drug (DMARD) for inflammatory rheumatic diseases (IRDs). MTX can be very efficacious but can also have serious, life-threatening side effects. Adequate education and follow-up of patients/carers are therefore essential, and dedicated rheumatology nurse consultations are an important part of this. However, many patients across European countries lack access to nurse consultations, and there are no agreed-upon, defined standards of care for this topic.

Objectives: To develop points to consider (PtC), based on the best available evidence and experts' opinion, on the nursing education of patients (or carers) with IRDs taking MTX.

Methods: A task force of adult and pediatric nurses (n=19) from 16 European countries, one rheumatologist, one pharmacist, and three patient-representatives, was established by the Portuguese Association of Health Professionals in Rheumatology. The group convened virtually to discuss the protocol for developing the PtC, including the research questions for a scoping review and for a European survey to collect patients'/careers', nurses' and rheumatologists' experiences and perceptions about MTX education. The results from these studies informed the development of the PtC statements, which were discussed and voted on in two virtual meetings and one online questionnaire. EULAR Standard Operating Procedures for the development of recommendations/PtC were followed.

Results: The consensus resulted in three overarching principles and six PtC. All PtC were based on available scientific evidence, and all obtained high levels of agreement (>8/10). These PtC emphasize the need for continuous, tailored education by trained nurses, the availability of diverse educational methods, and the support for self-management and adherence strategies.

Conclusion: A set of PtC has been developed to improve the quality of care provided to patients with IRDs and their carers regarding the education and support nurses should provide on MTX use. The ultimate goal is to optimize MTX intake, improve efficacy, reduce side effects and ensure adherence to treatment. A plan is underway for the European implementation of these PtC, recognizing the crucial relevance of multi-professional rheumatology teamwork.

Introduction: Pulmonary rheumatoid nodules are a relatively uncommon extra-articular manifestation of rheumatoid arthritis. We report a case occurring after therapy with golimumab.

Case report: A 79-year-old woman, with a seropositive rheumatoid arthritis diagnosis since the age of 55, was under treatment with methotrexate 20mg/week since diagnosis, in combination with golimumab for the past 8 years. High-resolution computed tomography (HRCT) of the chest revealed over 60 bilateral lung nodules, multifocal, the majority with a diameter range 5-7 mm and with central cavities. A video bronchoscopy was performed: histopathology was negative for neoplastic cells, and bacteriologic, fungal and mycobacterial cultures were negative. Golimumab was suspended, maintaining only methotrexate. Chest HRCT at six months showed complete resolution of the lesions.

Discussion: A diagnosis of rheumatoid nodules was made based on the clinical setting, radiographic features, cultural exams and histopathology findings. There have been reports suggesting they may develop during TNF inhibitors therapy, mainly observed with etanercept. Only one other case has been described with golimumab. Treatment discontinuation resulted in regression/stability of the lesions in most patients, as happened in our case.

Objectives: To evaluate the frequency of radiographic pelvic enthesitis in patients with axial spondyloarthritis (axSpA), focusing on zone-specific entheseal sites and their associations with disease activity, mobility, and functional outcomes.

Methods: This prospective cross-sectional study included 100 patients with radiographic axial spondyloarthritis (r-axSpA) and 100 patients with non-radiographic axial spondyloarthritis (nr-axSpA), who were consecutively admitted to a tertiary hospital's rheumatology outpatient clinic. Pelvic enthesitis was evaluated in three zones using anteroposterior pelvic X-rays, guided by the recently introduced Radiographic Enthesis Index (REI). Disease activity, spinal mobility, and functionality were assessed using ASDAS-CRP, BASDAI, BASMI, and BASFI.

Results: Radiographic enthesitis in the pelvic region was found in 128 patients (64% of the total), comprising 72 (72%) in the r-axSpA group and 56 (56%) in the nr-axSpA group (p = 0.018). Zone 3 (ischiopubic ramus) enthesitis was the most common (59.5%) and was significantly correlated with impaired spinal mobility (BASMI), reduced lumbar lateral flexion, cervical rotation, and modified Schober test scores (p < 0.001). Zone 2 (pubic symphysis) enthesitis was associated with higher disease activity (BASDAI, p = 0.026). Patients with pelvic enthesitis also experienced longer symptom duration (p < 0.001).

Conclusions: Pelvic enthesitis detected by AP pelvic radiography is frequent and clinically significant in axSpA. Our findings highlight novel associations with increased disease activity (particularly at the Zone 2) and reduced spinal mobility (notably at the Zone 3).

Introduction
Macrophage activation syndrome (MAS) is a life-threatening hyperinflammatory condition. Emapalumab, an IFNγ-directed antibody, is approved for use in the USA but not in Europe. Case
A 15-year-old girl presented with fever, odynophagia and a transient rash. After 9 days of hospitalization under empirical antibiotics, she developed pancytopenia, hypofibrinogenaemia, elevated ALT, AST, LDH, triglycerides, soluble CD25, serum calprotectin and ferritin (peak 357,976 ng/ml), and hepatosplenomegaly. Infectious and immune workups were negative, and bone biopsy confirmed haemophagocytosis. MAS was diagnosed, which was complicated by acute respiratory distress and supraventricular tachycardia. High-dose corticosteroids, anakinra and ciclosporin were initiated, with transient improvement. Subsequent drug-induced hepatotoxicity and microangiopathy, and infections worsened her condition. Given refractoriness to standard therapy, emapalumab was started under compassionate use, leading to sustained clinical and laboratory remission. She was discharged and remains stable at six-month follow-up, off corticosteroids and on canakinumab maintenance. Discussion
This case illustrates the challenges of treating severe, refractory MAS. Emapalumab, used for the first time in Portugal, was well tolerated and associated with complete and sustained remission after failure of multiple therapeutic lines.

Objectives: Cardiac involvement is a leading cause of morbidity and mortality in systemic sclerosis (SSc) yet is often underdiagnosed. Early recognition is crucial but published data remains limited. This study aimed to characterize the clinical presentation, diagnostic features, and outcomes of SSc patients with acute primary heart involvement.

Methods: This multicentre retrospective case series included patients meeting the 2013 ACR/EULAR SSc classification criteria with clinically significant pericardial effusion or myocardial involvement, identified across tertiary rheumatology centres in Portugal (Coimbra, Lisbon, and Porto) and Spain (León). A complementary literature review was performed to identify additional published cases.

Results: Of 23 screened cases, 6 met the inclusion criteria. The literature review identified 13 additional reports, totalling 19 patients. In 8 (42.1%) of patients, heart involvement was either the initial manifestation or occurred concurrently with the diagnosis of SSc. Pericardial disease (n=6) often presented as tamponade requiring emergent pericardiocentesis. Myocardial involvement (n=13) was classified as acute myocarditis (AM) in 9 (69.2%) and chronic inflammatory cardiomyopathy (CIC) in 4 (30.8%). Cardiac magnetic resonance showed late gadolinium enhancement in 9 (72.7%) and myocardial oedema in 4 (36.4%); however, both were absent in two biopsy-confirmed AM cases. Cyclophosphamide was the second most common therapy after corticosteroids. Two patients died during hospitalization, with three more deaths during long-term follow-up.

Conclusion: Severe cardiac manifestations in SSc frequently occur early in the disease, presenting as tamponade or myocardial involvement. Reliance solely on imaging may lead to myocarditis underdiagnosis. Distinct clinical profiles between AM and CIC point toward separate phenotypes with unique prognostic and therapeutic considerations. Large-scale, prospective studies are essential to refine early diagnostic approaches and optimize treatment.