Chapter 52 - Autoinflammatory inner ear disease (AID)

Abstract

Autoinflammatory inner ear disease (AID) is a family of rare otologic diseases that result from dysregulation of the innate immune system. Although our current understanding of autoinflammatory diseases continues to evolve, there has been a growing body of literature regarding the pathogenesis of these disorders and their effect on the inner ear. Autoinflammatory diseases represent a growing group of immune-mediated inflammatory disorders (IMID) that are characterized by the overexpression of pro-inflammatory cytokines in the absence of autoreactive lymphocytes or antibodies that are associated with autoimmune disease processes. Since the recognition of autoimmune inner ear disease (AIED) in the 1940s1, there has been growing interest in the role of the immune system in disorders of hearing loss. As AIED was increasingly characterized, a number of disorders were noted for their responsiveness to interleukin (IL)-1 inhibitors2. Through this discovery, it was postulated that this subset of disorders resulted from mechanisms that closely resembled other autoinflammatory diseases, supporting the distinction of AID from other disorders associated with AIED. There have been many proposed examples of autoinflammatory diseases with otologic sequelae, with the family of cryopyrin-associated periodic syndrome (CAPS) diseases representing one of the most well-described examples. These diseases include a spectrum of phenotypes including familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS), and neonatal-onset multisystem inflammatory disease/chronic infantile neurological cutaneous articular syndrome (NOMID/CINCA). This chapter will review a few of these better characterized disorders associated with AID and discuss current investigations into their pathophysiology, clinical findings, and management.