Musculoskeletal manifestations in hereditary periodic fever syndromes

Monogenic autoinflammatory diseases (AIDs) are a group of inflammatory disorders induced by deregulation of the innate immune system and characterised by inflammatory bouts with fever as well as a large spectrum of other possible manifestations involving most organs and tissues. In this context, musculoskeletal manifestations represent a frequent finding in the clinical picture of patients with AIDs and may range from less severe affections including myalgia and arthralgia to severe arthritis, muscle fasciitis, bone erosions, and joint deformities. Therefore, as diagnostic suspicions originates from a careful and detailed clinical evaluation, physicians dealing with mono- genic AIDs should bear in mind their possible muscle and joint manifestations, some of which are typical and very useful for diagnostic purposes. Indeed, their prompt recognition may reduce the diagnostic delay thus allowing an early and appropriate therapeutic management. For these reasons, the present review is aimed at providing a wide overview on the different patterns of joint and muscle affections in the four main monogenic AIDs.