How to Diagnose and Manage Systemic Autoinflammatory Diseases in Childhood

Abstract

Systemic autoinflammatory diseases (sAIDs) are severe disabling conditions associated with a significant morbidity and limited awareness. Cryopyrin-associated periodic syndrome (CAPS) and systemic juvenile idiopathic arthritis (sJIA) are two prototype sAIDs that present with chronic urticarial or maculo-papular rash in early childhood. A diagnosis of sAID relies on combined clinical symptoms, a positive family history, where applicable, and typical laboratory results. Treatment with anti-cytokine blockers targeting interleukin-1 (IL-1) or IL-6 is effective in reducing clinical symptoms and inflammatory markers and approved for the treatment of CAPS and/or sJIA. In order to prevent severe complications such as amyloidosis, destructive arthropathy or macrophage activation syndrome (MAS), it is important to diagnose patients early and to initiate anti-IL-1 blockade in symptomatic CAPS patients and anti-IL-1 or anti-IL-6 blockade in therapy-refractive sJIA patients without delay.