Review Articles

Inborn errors of metabolism are a diverse group of disorders that can mimic rheumatological disease, often presenting with progressive joint and systemic involvement. This Review serves as a primer for rheumatologists, covering clinical aspects and potential mechanisms by which these metabolic alterations cause immune dysregulation.

Non-invasive imaging of articular cartilage has evolved markedly and can be used to monitor response to treatment and predict disease outcomes. This Review provides rheumatologists with a comprehensive update on current and emerging imaging and analysis techniques for the assessment of cartilage.

Systemic sclerosis (SSc) is a severe fibrotic disease that affects multiple organs, driven by vascular damage, inflammation and dysregulated repair. The authors of this Review explore the key mechanisms that promote fibrosis in SSc and highlight emerging therapeutic targets.

Although current treatments for axial spondyloarthritis can reduce inflammation, many patients continue to experience pain. This Review examines the complex interplay between pain and inflammation in axial spondyloarthritis and argues that both should be addressed as interconnected therapeutic targets to achieve meaningful pain relief.

Monogenic disorders involving key elements of the TNF pathway now encompass a diverse and expanding group of conditions, spanning autoinflammatory, autoimmune, immunodeficiency and neurodegenerative diseases. This Review discusses the genetic causes, clinical features and current therapeutic strategies for these disorders, emphasizing the value of accurate molecular diagnosis and targeted interventions.

In this Review, the authors summarize the potential role of emerging viruses in autoimmune rheumatic diseases (AIRDs). They describe the association between viruses and AIRD flare ups, the putative mechanisms linking AIRD to viral infections and hormone modulation of viral pathogenesis and autoimmune diseases.

Endosomal traffic orchestrates important immune functions, including receptor signalling, antigen processing and metabolic regulation, and has a pivotal role in maintaining self-tolerance. Disruption of these pathways contributes to autoimmune diseases such as systemic lupus erythematosus and rheumatoid arthritis, offering new therapeutic opportunities.

Emerging evidence suggests a paradigm shift in viewing osteoarthritis (OA) as a systemic, bidirectional disease. This Review examines the current data supporting this concept, outlines key challenges in research approaches, and proposes strategies to improve preclinical studies and clinical trial design.

Immune-checkpoint agonists are a promising therapeutic approach for autoimmune disease. This Review discusses the immune-checkpoint receptors PD-1, BTLA and TIGIT as well as the preclinical and clinical evidence for therapeutically targeting these receptors for the treatment of rheumatic diseases.

Cam morphology can cause intra-articular joint damage and lead to femoroacetabular impingement syndrome and eventually hip osteoarthritis. This Review explores the development and effect of cam morphology on femoroacetabular impingement syndrome and hip osteoarthritis, discussing relevant terminology, diagnostic approaches, pathophysiological insights and management strategies.

This Review explores the complex relationship between obesity and psoriatic disease. The authors highlight the underlying mechanisms that drive this association and propose a comprehensive approach to managing obesity in individuals with psoriatic disease to improve overall disease management and therapeutic response.

Childhood-onset SLE is characterized by high disease activity, severe organ damage and substantial treatment challenges. The authors of this Review provide an update on the advances in the understanding of the pathogenesis of childhood-onset SLE in the past decade, emphasizing the need for more research to improve outcomes.

The factors and mechanisms that regulate osteoclast-induced inflammatory bone loss are complex. The authors of this Review provide an overview of osteoclast regulation in the context of inflammatory bone loss and rheumatoid arthritis and provide insights into potential treatment strategies.

This Review discusses latest advances in the field of cutaneous lupus, including the improved understanding of disease pathogenesis and emerging targeted therapies.

This Review article provides an update on the pathophysiology, diagnosis and treatment of Takayasu arteritis. The authors emphasize the need for a multidisciplinary approach to the diagnosis and management of this complex disease.

ANCA-associated vasculitis (AAV) includes three disease subtypes with partly overlapping clinical manifestations: granulomatosis with polyangiitis (GPA), microscopic polyangiitis (MPA) and eosinophilic granulomatosis with polyangiitis (EGPA). This Review article provides an update on the diagnosis and classification of AAV, discussing parameters for assessing disease activity and predicting outcomes towards a personalized medicine approach.

Evidence is emerging that glucagon-like peptide-1 (GLP-1) receptor agonists have anti-inflammatory and chondroprotective properties independent of their effects on weight loss. In this Review, the authors discuss the potential effects of GLP-1 receptor agonists on the incidence, disease activity and progression of various forms of arthritis, as well as practical considerations for their use in this context.

This article provides a comprehensive overview of the epidemiology of spondyloarthritis — including axial spondyloarthritis, psoriatic arthritis and peripheral spondyloarthritis — worldwide, as well as the epidemiology of genetic factors implicated in these diseases.

This Review provides a comprehensive overview of emerging therapies for the treatment of systemic sclerosis. The authors highlight novel therapeutic targets and emphasize the need for precision medicine approaches for the effective treatment of this disease.

In this Review article, the potential of cytometry- and single-cell RNA sequencing-based immune profiling for aiding the diagnosis and personalized treatment of rheumatic diseases is discussed.