Abstract
The autoinflammatory diseases, also known as periodic fever syndromes, are disorders of innate immunity which can be inherited or acquired and which cause recurrent, self-limiting, seemingly spontaneous episodes of systemic inflammation and fever in the absence of autoantibody production or infection. There has been much recent progress in elucidating their aetiologies and treatment. With the exception of familial Mediterranean fever, which is common in certain populations, autoinflammatory diseases are mostly rare but should not be overlooked in the differential diagnosis of recurrent fevers since DNA diagnosis and effective therapies are available for many of them.
Highlights
The autoinflammatory conditions are a group of multisystem disorders of innate immunity characterised by fluctuating or irregularly recurring episodes of fever and systemic inflammation, affecting the skin, eyes, joints, and serosal surfaces
Other mutations resulting in near-complete absence of enzyme activity cause a much more severe inflammatory disease known as mevalonic aciduria (MVA), features of which include stillbirth, congenital malformations, severe psychomotor retardation, ataxia, myopathy, failure to thrive, and early death
Up to 60% of patients with familial Mediterranean fever (FMF) died of renal failure due to AA amyloidosis before prophylactic colchicine was widely prescribed, and even recently it was reported in 13% of a large Turkish series
Summary
The autoinflammatory conditions are a group of multisystem disorders of innate immunity characterised by fluctuating or irregularly recurring episodes of fever and systemic inflammation, affecting the skin, eyes, joints, and serosal surfaces. Other mutations resulting in near-complete absence of enzyme activity cause a much more severe inflammatory disease known as mevalonic aciduria (MVA), features of which include stillbirth, congenital malformations, severe psychomotor retardation, ataxia, myopathy, failure to thrive, and early death It is not yet known how MVK deficiency causes inflammation or increased IgD production, reduction in prenylation due to failure of flux through the isoprenoid pathway currently seems more likely to be responsible than accumulation of the enzyme’s substrate [38,39]. Whilst the lifetime incidence of AA amyloidosis is about 1% to 5% in patients with chronic inflammatory diseases generally, it is much more common among patients with inherited periodic fever syndromes, the factors that determine susceptibility to its development, other than the presence of an acute-phase response for a long period, are not known. Other articles in this series can be found at: http://arthritis-research.com/sbr
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
