Clinical and biochemical landmarks in systemic autoinflammatory diseases

Luca Cantarini, Donato Rigante, Maria Giuseppina Brizi, Orso Maria Lucherini, Gian Domenico Sebastiani, Antonio Vitale, Valentina Gianneramo, Mauro Galeazzi

Research output: Contribution to journalArticle

Abstract

Systemic autoinflammatory diseases are a group of inherited disorders of the innate immune system characterized by seemingly unprovoked inflammation recurring at variable intervals and involving skin, serosal membranes, joints, and gastrointestinal apparatus, with reactive amyloidosis as a possible severe long-term complication. Recent advances in genetics and molecular biology have improved our understanding of the pathogenesis of these diseases, including familial Mediterranean fever, mevalonate kinase deficiency syndrome, tumor necrosis factor receptor-associated periodic syndrome, cryopyrin-associated periodic syndromes, and hereditary pyogenic and granulomatous disorders: the vast majority of these conditions are related to the activation of the interleukin-1 pathway, which results in (or from?) a common unifying pathogenetic mechanism. Their diagnostic identification derives from the combination of clinical data, evaluation of acute phase reactants, clinical efficacy in response to specific drugs, and recognition of specific mutations in the relevant genes, although genetic tests may be unconstructive in some cases. This review will discuss clinical and laboratory clues useful for a diagnostic approach to systemic autoinflammatory diseases. © 2012 Informa UK, Ltd.
Original languageEnglish
Pages (from-to)664-673
Number of pages10
JournalAnnals of Medicine
Volume44
DOIs
Publication statusPublished - 2012

Keywords

  • Autoinflammatory diseases
  • Serum amyloid A (SAA)
  • Diagnosis
  • Cytokines

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