Vasculitis in autoinflammatory diseases

This review aims to explore the relationship between autoinflammatory diseases (AIDs) and vasculitis, with a focus on recently identified syndromes and newly published data since 2016.

While the connection between innate immune dysregulation and systemic inflammation is well established in AIDs, the occurrence of vasculitis in these disorders remains underrecognized and often misclassified.We discuss vasculitic manifestations in a wide range of AIDs, including familial Mediterranean fever, DADA2, HA20, VEXAS, CAPS, TRAPS, HIDS/MKD, Blau syndrome, and others. Each condition presents a unique pattern of vascular involvement, ranging from incidental cutaneous findings to life-threatening systemic vasculitis. The underlying mechanisms often involve overactivation of inflammatory pathways such as IL-1β, or NF-κB, and in some cases, novel genetic mutations affecting non-inflammatory pathways such as purine metabolism. The histologic, clinical, and genetic features often differ from classic vasculitic syndromes.

Recognizing vasculitis in the context of AIDs is critical for early diagnosis, especially in pediatric patients or those with treatment-resistant or atypical presentations. Genetic testing should be considered in such cases. Understanding these distinct disease patterns allows physicians to tailor management strategies, including biologic therapies or hematopoietic stem cell transplantation, improving outcomes in these complex and often severe disorders.