Title:Clinical Approach to Systemic Autoinflammatory Disorders: Classification, Disease Phenotypes and Management
Volume: 14
Issue: 2
Author(s): Tiago Borges*
Affiliation:
- Internal Medicine Department, Hospital Privado de Gaia (Trofa Saude), Vila Nova de Gaia,Portugal
Keywords:
autoinflammatory disorders, inflammasome, periodic fever syndromes, fever, inflammation, systemic.
Abstract: Autoinflammatory Disorders (AIDs) can be either systemic or organ-specific. Systemic
AIDs are associated with a primary dysfunction of the innate immunity that results in clinical signs of
inflammation and/or elevated serum levels of acute-phase reactants. AIDs often present with rash,
serositis, arthritis and/or aphthosis. Hereditary periodic fever syndromes, such as Familial
Mediterranean Fever (FMF) and Tumor Necrosis Factor Receptor-Associated Periodic Syndrome
(TRAPS), constitute the prototype of systemic AIDs. However, these also include many other
disorders that do not follow the typical relapse-remitting pattern of unprovoked recurrent febrile
episodes with intercalated periods of general well-being that can also result in severe complications
such as amyloidosis. In this review, previous classification systems of AIDs, either clinical or
pathophysiological/functional-based, have been revised and systemic AIDs are individually
described. Also, a simplified classification based on clinical phenotypes that differentiates systemic
from organ-specific AIDs is discussed.