Adult-onset inflammatory diseases encompass a diverse group of disorders marked by dysregulated immune responses that arise later in life. These conditions often present with systemic inflammation, fever, rash, arthritis, and elevated inflammatory markers, making diagnosis complex due to overlapping features with infections, malignancies, and autoimmune diseases. Among these, Adult-Onset Still’s Disease (AOSD) and the recently identified VEXAS syndrome represent two key entities. While AOSD is a classic autoinflammatory disorder involving cytokine dysregulation, VEXAS is a somatic mutation-driven syndrome that links inflammation with hematologic dysfunction. Studying these diseases offers insights into adult autoinflammation and guides advances in personalized, targeted therapies.

The primary goal of this research is to address the diagnostic and therapeutic challenges in adult-onset inflammatory diseases, particularly focusing on AOSD and VEXAS syndrome, and in general to all the adult-onset conditions related to autoinflammation. These conditions, while clinically distinct, often present with nonspecific systemic inflammatory symptoms such as fever, rash, and elevated acute-phase reactants, making timely and accurate diagnosis difficult. Misdiagnosis or delayed recognition can lead to ineffective treatments, increased morbidity, and, in some cases, life-threatening complications.

A major issue lies in the lack of specific biomarkers and the overlapping features with autoimmune, infectious, and malignant disorders. Additionally, standard immunosuppressive therapies may not be effective, particularly in genetically driven syndromes. Recent advances such as next-generation sequencing (NGS) have revolutionized the ability to detect somatic mutations, aiding in early identification of several diseases. Similarly, cytokine profiling and targeted biologic therapies, including IL-1 and IL-6 inhibitors, have improved outcomes in many of these conditions.

This research aims to synthesize current knowledge, highlight recent diagnostic tools, and evaluate novel therapeutic strategies. By improving disease recognition and aligning treatment approaches with disease mechanisms, it seeks to contribute to a more precise and effective management framework for adult-onset inflammatory diseases.

This Research Topic invites:

• Original research
• Reviews
• Case Reports/Series

focused on adult-onset inflammatory diseases, and related autoinflammatory or hematoinflammatory disorders. Contributions should explore themes including but not limited to: disease pathogenesis, immunological and genetic mechanisms, clinical phenotypes, diagnostic challenges, and emerging biomarkers. Submissions addressing advances in molecular diagnostics, cytokine profiling, and targeted therapies are particularly welcome. Comparative analyses between traditional autoinflammatory diseases and newly described syndromes are encouraged, especially in the context of precision medicine. We also invite discussions on evolving classification criteria, real-world clinical management, and prognostic implications. The aim is to provide a comprehensive overview that enhances understanding, diagnosis, and treatment of these complex adult-onset inflammatory conditions.

Are you interested in contributing a manuscript to this Research Topic?

Adult-onset inflammatory diseases: from Still's disease to VEXAS syndrome