Chapter 29 - Periodic fever syndromes and autoinflammatory diseases

Abstract

Periodic fever syndromes (PFS) and other autoinflammatory diseases (AuID) are characterized by recurrent episodes of inflammation often accompanied by fever and without an apparent triggering factor. PFS have traditionally been categorized together due to the commonality of recurring febrile exacerbations with findings of systemic inflammation of the eyes, skin, joints, and serosal tissues. In these disorders, the predominant affectation is found in the inflammasomes, representing the collection of innate immune response mechanisms, which are tasked with controlling inflammatory responses. The remainder of the AuID discussed here are also linked by various pathways to overactivation of the innate immune system, leading to increased production of inflammatory cytokine pathways including IL-1β, IL-6, IL-18, and type 1 interferons. Some of these conditions have a focused cytokine effect, while others represent overlapping pathways of inflammatory responses. Diagnosis can be made with strong clinical suspicion, followed by confirmatory genetic testing in many cases. As we learn more about these monogenic syndromes, they can continue to inform our understanding of inflammation-related pathology, as well as help us to develop more precise therapies for better outcomes.