Adult-onset Still's disease

Area of Science:

• Rheumatology
• Immunology
• Genetics

Background:

• Adult-onset Still's disease (AOSD) is a rare, complex autoinflammatory syndrome.
• Genetic predisposition and environmental triggers contribute to AOSD pathogenesis.
• Key features include macrophage/neutrophil activation, decreased NK cell function, and elevated pro-inflammatory cytokines like IL-18 and IL-1β.

Purpose of the Study:

• To summarize the pathogenesis, clinical presentation, and treatment of AOSD.
• To highlight the role of inflammasome-processed cytokines in AOSD.
• To discuss emerging therapeutic strategies for refractory AOSD.

Main Methods:

• Literature review of AOSD pathogenesis and clinical features.
• Analysis of cytokine profiles and immune cell dysregulation in AOSD.
• Review of recent treatment outcomes for refractory AOSD.

Main Results:

• AOSD presents with fever, rash, arthritis, and characteristic laboratory findings including neutrophilic leukocytosis and hyperferritinemia.
• Two phenotypes exist: a highly symptomatic systemic pattern and an indolent arthritis-predominant pattern.
• Anakinra, tocilizumab, and TNFα-blockers show potential for steroid- and methotrexate-refractory AOSD.

Conclusions:

• Understanding AOSD pathogenesis informs treatment strategies.
• Targeting inflammasome pathways and specific cytokines offers new therapeutic avenues.
• Biologics like anakinra and tocilizumab represent effective, steroid-sparing options for refractory AOSD.