Current opinion in rheumatology最新文献

Purpose of review: With the rise in incidence of aortic aneurysm surgeries and the advances in large vessel imaging's ability to detect vessel wall inflammation, rheumatologists can expect to see an increase in isolated aortitis (IA) cases in their clinics. The purpose of this article is to review the latest data on IA, discuss its natural history and to provide an approach on how to diagnose and manage this inflammatory aortic disease.

Recent findings: IA can be diagnosed on surgical histology or on imaging studies. Preoperative imaging in patients with thoracic aortic aneurysms does not detect all aortitis cases. Patients with IA have a high risk (up to 50%) of developing new aortic and branch lesions. Histologic and mechanistic studies show an overlap with giant cell arteritis.

Summary: Evaluation for underlying infections and systemic diseases is recommended for diagnosis. Surveillance of patients with IA with repeated clinical assessments and imaging is recommended.

Purpose of review: As the question of the pathogenesis of inflammatory myopathies remains unanswered, there has been a significant effort in recent years to investigate various components of the innate and adaptive immune systems, with evidence pointing that they work together to initiate and propagate the autoimmune response. This review aims to explore recent advancements in understanding the mechanisms underlying myopathies.

Recent findings: Recent research has concentrated on uncovering potential triggers, examining the role of immune cells, both lymphocytes and myeloids, and investigating the contribution of inflammatory mediators to the autoimmune response in inflammatory myopathies. Unsuccessful clinical trials helped reshape established hypotheses about pathogenesis, while genetic mutations offered clues to the disease's root causes. The pathogenic role of autoantibodies is being reconsidered based on transcriptional data. Repurposing existing medications to combat muscle fiber dysfunction is also emerging as a potential therapeutic approach.

Summary: Our understanding of inflammatory myopathies has evolved significantly as our understanding of the disease has grown. Even though breakthroughs have been documented on the underlying mechanisms of myopathies, important questions remain unanswered.

Purpose of review: This review summarizes the most recent approaches in managing cutaneous involvement, one of the main clinical manifestations of systemic sclerosis (SSc). The following article is written for clinicians and researchers looking for optimizing patient care and exploring new therapies.

Recent findings: Recent studies have shown advancements in the management of cutaneous manifestations of SSc. While mycophenolate remains the first-line treatment, other immunosuppressive therapies targeting different pathways have shown promising results. B-cell depleting agents, such as Rituximab (RTX), are being increasingly utilized for cutaneous scleroderma with positive outcomes. Intravenous immunoglobulins (IVIG) have also demonstrated potential benefit for refractory cases with advanced skin fibrosis.Moreover, emerging approaches such as autologous hematopoietic stem cell transplant (AHSCT) have been evaluated in clinical trials, with evidence suggesting its ability to reset the immune system and achieve remission in skin involvement in severe cases. Chimeric antigen receptor (CAR) T cell therapy is the most recent potential pathway to target refractory skin and systemic disease.

Summary: Management of cutaneous involvement in SSc remains challenging. The following study provides a comprehensive review of the most recent updates in treating cutaneous aspects (and associated complications) of SSc to help clinicians establish a more effective approach managing this condition.

Purpose of review: Antiphospholipid syndrome (APS) is an autoimmune, thromboinflammatory disease, which affects children and adults. There are particular features of the disease and nuances to diagnosis and management in a pediatric population, which must be appreciated to improve clinical care.

Recent findings: Pediatric-specific epidemiological studies highlight that pediatric APS is quite rare with incidence in some populations of 0.2 per 100 000. There are new classification criteria in APS, which include a wider range of clinical features increasingly identified in registry data and case series of pediatric APS, though validation in pediatric APS is still needed. There is a particularly high proportion of pediatric APS patients with noncriteria antiphospholipid antibodies (aPL). Recurrent thrombosis is especially common in pediatric APS, highlighting the difficulty of management of this disease with high morbidity in children.

Summary: Recent research has enhanced understanding of pediatric-specific APS epidemiology, laboratory findings, the wide variety of clinical features, and challenges in successful treatment. Future directions could include evaluation of potentially unique features in pediatric pathophysiology, an evaluation of the new APS classification criteria in children, broader prospective data on clinical and laboratory features, and a continued search for treatment beyond committing young patients to lifelong anticoagulation.

Purpose of review: This review provides an updated overview of the gut microbiota's involvement in spondyloarthritis (SpA) from a clinical perspective. It explores mechanisms by which the gut microbiota may influence SpA pathogenesis and considers the therapeutic implications of targeting the microbiome in SpA treatment.

Recent findings: The pathogenesis of SpA is multifactorial, involving genetic predisposition, external factors and dysregulation of the immune system. Recent studies have identified alterations in the gut microbiome of patients with SpA, including changes in microbial diversity and specific taxa linked to disease activity. HLA-B27 status seems to influence gut microbiota composition, potentially impacting disease progression. In HLA-B27 transgenic rats, the association between gut microbiota and SpA development has been confirmed, supporting findings from human studies. A compromised gut barrier, influenced by proteins like zonulin, may allow microbial antigens to translocate, triggering immune responses associated with SpA.

Summary: These findings highlight the potential for microbiota-modulating therapies, such as probiotics, prebiotics, diet and exercise, in managing SpA. However, methodological variability in human studies exposes the need for more rigorous research to better understand these associations. This may offer the opportunity to refine treatment strategies, offering a personalized approach to managing the disease.

Purpose of review: Systemic lupus erythematosus (SLE) is a severe autoimmune/inflammatory disease. Patients with juvenile disease-onset and those of non-European ancestry are most severely affected. While the exact pathophysiology remains unknown, common and rare gene variants in the context of environmental exposure and epigenetic alterations are involved. This manuscript summarizes the current understanding of genetic and epigenetic contributors to SLE risk, manifestations and outcomes.

Recent findings: Though SLE is a mechanistically complex disease, we are beginning to understand the impact of rare and common gene variants on disease expression and associated outcomes. Recent trans -ancestral and multigenerational studies suggest that differential genetic and environmental impacts shape phenotypic variability between age-groups and ancestries. High genetic burden associates with young age at disease-onset, organ involvement, and severity. Additional epigenetic impact contributes to disease-onset and severity, including SLE-phenotypes caused by rare single gene variants. Studies aiming to identify predictors of organ involvement and disease outcomes promise future patient stratification towards individualized treatment and care.

Summary: An improved understanding of genetic variation and epigenetic marks explain phenotypic differences between age-groups and ancestries, promising their future exploitation for diagnostic, prognostic and therapeutic considerations.

Purpose of review: Updates from large, observational cohorts and new statistical techniques have resulted in new data on the epidemiology of systemic sclerosis (SSc). This scoping review uses data from 2018 to 2024 to describe the current understanding of the epidemiology of SSc and several of its organ- manifestations.

Recent findings: Our review identified new estimates for the global incidence and prevalence of SSc (1.4-8.6 per 100 000 person-years and 17.6-18.9 per 100 000 individuals, respectively). Mortality rates remain high, though mortality at younger ages has decreased. interstitial lung disease and pulmonary arterial hypertension remain the most common causes of death for patients with SSc. Literature on gastrointestinal (GI) manifestations of SSc was scarce, and we identified significant heterogeneity in results. Furthermore, data on the epidemiology of racial, ethnic and sex-based disparities was lacking.

Summary: New techniques for the evaluation of the epidemiology of SSc highlight the high morbidity and mortality of SSc, and a growing prevalence rate compared with prior eras. Further research is needed to address notable heterogeneity in the reporting of epidemiological data and understudied disease manifestations, including GI disease and health disparities in disease outcomes.

Purpose of review: Psoriatic arthritis is an immune-mediated disease that primarily affects the skin and joints. It falls under the umbrella term of rheumatic diseases, which describes a group of closely related yet distinct disorders with many common underlying molecular pathways. Despite the distinct clinical manifestation of each disorder, the shared therapeutic strategies attest to the commonality of cellular and molecular underpinnings. Herein we provide a concise yet comprehensive overview of the interleukin (IL)-23/IL-17 axis and its involvement in mechanistic pathways leading to the pathogenesis of this dual skin and joint clinical manifestation which is characteristic of psoriatic arthritis and other rheumatic diseases.

Recent findings: The interconnection between activated innate immune cells and adaptive immunity has transformed current thinking to include other organs such as the bone marrow as potential tissue of disease origin. A plethora of animal models and genetic studies converge on the critical role of IL-23/IL-17 axis, and highlight the importance of myeloid cell activation as common pathways between autoinflammatory and autoimmune diseases and chronic inflammation. These findings underscore the intricate immune mechanisms involved in inflammatory arthritis and highlight molecular mechanisms in disease pathogenesis.

Summary: These insights pave the way for the development of novel diagnostic and therapeutic strategies, with a focus on translating these findings into improved clinical practice.

Purpose of review: This review aims to synthesize recent developments in the epidemiology of idiopathic inflammatory myopathies (IIMs), focusing on incidence, prevalence, disease classification, and clinical outcomes.

Recent findings: IIM is a rare group of autoimmune diseases characterized by muscle weakness and systemic involvement, with incidence rates ranging from 0.2 to 2 cases per 100 000 person-years. The role of myositis-specific autoantibodies (MSAs) in stratifying disease risk and prognosis is increasingly recognized, such as in anti-MDA5 positive DM, which is associated with a high risk of rapidly progressive interstitial lung disease. Furthermore, patients with IIM exhibit elevated risks of comorbidities, including cardiovascular disease and malignancy.

Summary: IIM diseases are complex disorders with significant health impacts, necessitating enhanced awareness and research. Improved classification and understanding of MSAs are crucial for earlier diagnosis and tailored therapeutic strategies. Continued epidemiological research is essential to elucidate underlying mechanisms and inform future interventions, ultimately aiming to enhance the quality of life and clinical outcomes for affected patients.

Purpose of review: Ongoing research contributes to our understanding of the epidemiology of vasculitis and its outcomes across the globe. This review aims to summarize important research studies published on this topic in the last 18 months.

Recent findings: The implementation of rapid referral systems and use of large vessel imaging have improved the diagnosis of giant cell arteritis. A population-based study in immunoglobulin G4-related disease provides incidence and prevalence estimates for the United States for the first time. Recently published data supported viral infectious triggers for Kawasaki disease and immunoglobulin A vasculitis. Population studies in antineutrophil cytoplasmic antibody associated vasculitis report an increase in the incidence of eosinophilic granulomatosis with polyangiitis and have provided further insights into the burden of cardiovascular disease in these patients. Data on Behçet's disease continues to show increased all-cause mortality and need for better treatment strategies.

Summary: Recent literature highlights the heterogeneity of the epidemiology of vasculitis in different parts of the world as well as associated outcomes, comorbidities, and potential triggers. Thought new classification criteria are being employed in some forms of vasculitis, standardization of case identification remains an unmet need in multiple other forms of vasculitis.