Systemic and organ involvement in monogenic autoinflammatory disorders: a global review filtered through internists' lens.

Abstract

Monogenic autoinflammatory disorders (AIDs) are rare diseases driven by cytokine-mediated extraordinary sterile inflammation that results from the activation of innate immune pathways. The clinical hallmark of these diseases is the recurrence of stereotyped episodes of systemic- and organ-specific inflammation; the most common systems involved being the skin, musculoskeletal system, gastrointestinal tract, and central nervous system. The autoinflammatory disorders may have a profound impact on the quality of life of the affected patients, and a delayed diagnosis may lead to severe complications, the most dreadful of which is AA-Amyloidosis. This review gives an overview on the four main AIDs, namely familial Mediterranean fever, tumor necrosis factor receptor-associated periodic syndrome, cryopyrinopathies, and mevalonate kinase deficiency, focusing on their clinical phenotype in adults and differential diagnosis, suggesting a diagnostic algorithm, and reviewing the available treatments.

• Authors: Marco Cattalini, Martina Soliani, Giuseppe Lopalco, Donato Rigante, Luca Cantarini
• Journal: Internal and emergency medicine (Intern Emerg Med) Vol. 11 Issue 6 Pg. 781-91 (Sep 2016) ISSN: 1970-9366 [Electronic] Italy
• PMID: 27221072 (Publication Type: Journal Article, Review)

Topics

• Acquired Immunodeficiency Syndrome (diagnosis, physiopathology)
• Autoimmune Diseases (complications, physiopathology)
• Cryopyrin-Associated Periodic Syndromes (diagnosis, physiopathology)
• Education, Medical, Continuing (methods)
• Familial Mediterranean Fever (diagnosis, physiopathology)
• Fever (diagnosis, physiopathology)
• Hereditary Autoinflammatory Diseases (diagnosis, physiopathology)
• Humans
• Internal Medicine (methods, standards)
• Mevalonate Kinase Deficiency (diagnosis, physiopathology)