Mediterranean Journal of Rheumatology最新文献

Neuropsychiatric systemic lupus erythematosus (NPSLE) presents a significant diagnostic and therapeutic challenge due to its varied clinical manifestations. The prevalence of NPSLE ranges widely, reported between 37% and 95% in different case series, reflecting this condition's complex and heterogeneous nature. Here we report three cases of juvenile systemic lupus erythematosus (SLE) presenting with catatonia as a rare neuropsychiatric manifestation. Case 1 is a 15-year-old male with fever, and pancytopenia, diagnosed with SLE and subsequent development of catatonia. Case 2 is a 14-year-old female with a history of SLE presenting with altered sensorium, restlessness, and catatonia. Case 3 is a 15-year-old male with SLE exhibiting abnormal behaviour and catatonia. Treatment strategies for these cases include high-dose steroids, immunosuppression, and benzodiazepines. This case series emphasises the importance of a multidisciplinary approach, prompt diagnosis, aggressive treatment, and vigilant follow-up to optimise outcomes in these vulnerable paediatric patients. In conclusion, this case series contributes to the literature on catatonia in paediatric SLE, emphasising the need for expanded awareness, early recognition, and comprehensive management strategies. Further research is warranted to refine predictive factors and establish optimal maintenance protocols for this complex neuropsychiatric manifestation.

Multicentric Osteolysis Nodulosis and Arthropathy (MONA) is a rare skeletal disorder driven by mutations in the MMP2 gene, leading to bone and joint degradation. This case series presents three unique MONA cases, highlighting clinical, radiological, and genetic aspects. These insights shed light on the complexities of MONA, aiding early diagnosis and multidisciplinary management. Case 1 is a 13-year-old male, born to consanguineous parents, presented with a 5-year history of progressive joint deformities, pain, and difficulty walking. Initially diagnosed as juvenile idiopathic arthritis (JIA), despite treatment, his symptoms persisted. Examination revealed multiple clinical findings, including joint contractures and nodules. Genetic analysis identified a pathogenic variant in the MMP2 gene, confirming MONA. Case 2 and Case 3 were two siblings, aged 12 and 17 years respectively, who presented progressive joint contractures in their hands and feet since early childhood. Clinical examinations revealed contractures and subcutaneous nodules. Genetic analysis confirmed MONA with a shared homozygous pathogenic MMP2 variant, emphasising the genetic basis of this rare disorder.

Approval of anifrolumab for the treatment of moderate-to-severe systemic lupus erythematosus (SLE) in 2021 marked the success of a long quest to target the interferon system, in a disease wherein the latter has long been considered to play a pivotal role. Prior to anifrolumab, a number of agents had been tested in early phase clinical trials in patients with SLE, with equivocal results. Following its approval and marketing in several countries, the first reports regarding efficacy and safety in real-life clinical settings have been published, which suggest remarkable efficacy in skin manifestations of the disease, even after prior failure to multiple immunosuppressive therapies. In this report, we provide a short overview of IFN inhibitors that have been used in clinical trials of SLE, with a focus on anifrolumab; we also review all available evidence to date regarding its real-world efficacy and safety.

Systemic lupus erythematosus (SLE) is a chronic autoimmune disease that is characterised by a wide range of symptoms and a risk for irreversible organ damage, leading to increased morbidity and mortality. To improve long-term outcomes, innovative therapeutic goals have been explored, including attainment and maintenance of remission or low disease activity, with minimal use of glucocorticoids. Other goals encompass early diagnosis, potent yet less toxic therapies, appropriate glucocorticoid tapering, and better quality of life for the patients. Implementing a treat-to-target (T2T) approach involves treatment adjustments to achieve predefined objectives. Evidence from other chronic diseases, like hypertension and diabetes, supports the success of target-based approaches. In rheumatic diseases, the multitude of clinical features adds complexity to T2T strategies, but in rheumatoid arthritis, T2T has yielded improved outcomes. The application of T2T in SLE requires realistic therapeutic goals and practical tools for their measurement. International task forces have developed T2T recommendations for SLE, focusing on limiting disease activity, preventing organ damage, and minimising glucocorticoid use, while considering patients' quality of life. Advancements in defining clinically meaningful remission and low disease activity states, coupled with promising novel therapies, have spurred progress in the management of SLE.

Advances in knowledge of the microbiome and its relationship with the immune system have led to a better understanding of the pathogenesis of chronic inflammatory rheumatic diseases (CIRD). Indeed, the microbiome dysbiosis now occupies a particular place with implications for the determinism and clinical expression of CIRD, as well as the therapeutic response of affected patients. Several approaches exist to limit the impact of the microbiome during CIRD. This review aimed to present current strategies to prevent or reverse microbiome dysbiosis based on existing knowledge, in order to provide practical information to healthcare professionals treating patients suffering from CIRD.

Background: The cardiovascular disease (CVD) risk is elevated by 1.5 times among South Asians with rheumatological conditions like rheumatoid arthritis (RA) in the UK. However, there is a dearth of culturally sensitive educational interventions tailored to this population. We have culturally adapted an existing cognitive behavioural patient education intervention, originally designed for predominantly White populations, to address this gap.

Methods: The adaptation process followed the Ecological Validity Model, comprising four phases: stage-setting and expert consultations, preliminary content adaptation, iterative content adaptation with patient partners, and finalisation with patient partners and feedback. The Theoretical Domains Framework (TDF) was employed to evaluate the relevance, acceptability, and cultural adaptation of the existing intervention. Seven South Asian Patient Experts with RA were interviewed, and their input aided in developing new content for the culturally sensitive intervention.

Results: The intervention was successfully adapted to suit South Asians. Cultural adaptation involved reviewing elements of the existing intervention, including language tone, content, and metaphors. Moreover, by incorporating behaviour change techniques, the content was designed to enhance understanding of RA, CVD risk associated with RA, and promote a healthy lifestyle. The newly developed educational intervention addressed topics such as community resistance, perspectives on health and culture, societal pressure, and opportunities for change. Key messages were visually illustrated through pictorial diagrams in a twenty-five-minute online resource.

Conclusion: The first culturally adapted CVD intervention targeting South Asian individuals with RA, particularly those who are non-English-speaking, is now accessible free of charge at www.nras.org.uk/apnijung nationally and internationally.

Aim: The present study aims to investigate the prevalence, causes and outcomes of acute gastrointestinal (GI) bleeding in Rheumatoid arthritis (RA).

Methods: A systemic search was conducted from electronic databases (PubMed/Medline, Cochrane Library, and Google Scholar) from inception to 14^th November 2023. All statistical analyses were conducted in Review Manager 5.4.1. Studies meeting inclusion criteria were selected. A random-effect model was used when heterogeneity was seen to pool the studies, and the result was reported in prevalence and their corresponding 95% confidence interval (CI). Other outcomes were assessed using qualitative analysis.

Results: A total of eight studies (six observational studies and 2 trials were used to conduct this systematic review and meta-analysis. A total population of 138,041 patients was used. Pooled analysis showed a statistically significant risk of GI bleeding in RA patients receiving NSAIDs (prevalence = 2% (1%, 3%); P < 0.00001; I2 = 98%). Qualitatively, causes and outcomes were discussed.

Conclusion: Our study showed that 2% RA patients were subjected to GI bleeding, when they used NSAIDs. Other causes of GI bleeding were age-related factors, cardiovascular events, history of GI complications, and peptic ulcers. Outcome varied by the use of specific NSAIDs and the presence of comorbidities. Recent guidelines for the management of RA may mention GI bleeding as a potential complication, but the level of emphasis placed on this issue varies. Some guidelines provide comprehensive recommendations for its prevention and management, while others offer limited guidance.

Type I interferon (IFN) pathway dysregulation plays a crucial role in the pathogenesis of several systemic autoimmune rheumatic diseases (SARDs), including systemic lupus erythematosus (SLE), Sjögren's disease (SjD), systemic sclerosis (SSc), dermatomyositis (DM) and rheumatoid arthritis (RA). Genetic and epigenetic alterations have been involved in dysregulated type I IFN responses in systemic autoimmune disorders. Aberrant type I IFN production and secretion have been associated with distinct clinical phenotypes, disease activity, and severity as well as differentiated treatment responses among SARDs. In this review, we provide an overview of the role of type I IFNs in systemic autoimmune diseases including SLE, RA, SjD, SSc, and DM focusing on pathophysiological, clinical, and therapeutical aspects.

Glucocorticoids (GCs) are one of the most effective first-line treatments for systemic lupus erythematosus (SLE). However, GC burden is associated with damage. The initial GC dose and tapering schedule should be tailored to the severity of the clinical scenario. As lupus therapy should prompt remission while minimising damage, recent guidelines recommend a more accurate approach to the use of GCs, setting lower starting doses and rapid tapering schemes, and encouraging maintenance prednisolone doses <5 mg/day. Methylprednisolone pulses (MP) help to reduce the dose of oral GCs and improve the clinical response in both severe and non-severe manifestations, without significant side effects. Fixed-tapering GC scheme provides a useful strategy to reduce GCs exposure. Long-term antimalarial treatment and early initiation of immunosuppressive drugs improve clinical efficacy while reducing GC toxicity. Besides, withdrawal of GCs is an achievable goal in patients in prolonged remission on stable treatment, and recent studies have attempted to identify the most suitable candidates. In this article, we review the pharmacological basis, clinical evidence of efficacy, dose-related harms, and potential withdrawal of GCs. We also review guidelines recommendations and finally give a personal and practical approach to dealing with the use of GCs in SLE patients.

Systemic lupus erythematosus is the prototype multisystem autoimmune disorder characterised by a broad spectrum of organ involvement and a multitude of laboratory abnormalities. Clinical heterogeneity, unpredictable course and lack of pathognomonic clinical and serological features pose a considerable challenge in the diagnosis of SLE. The latter remains largely clinical, typically accompanied however by features of serologic autoimmunity, which are characteristic for the disease. Despite significant improvements in treatment strategies, an early diagnosis often continues to be an unmet need, as the median reported delay from symptom onset to SLE diagnosis is approximately 2 years. Classification criteria are usually used to support the diagnosis, yet with significant caveats. In this article, we provide an updated review of the clinical presentation of lupus and give clues for an accurate diagnosis.