Hints for Genetic and Clinical Differentiation of Adult-Onset Monogenic Autoinflammatory Diseases

Author:

Gaggiano Carla1,Rigante Donato23ORCID,Vitale Antonio4ORCID,Lucherini Orso Maria4ORCID,Fabbiani Alessandra5,Capozio Giovanna2,Marzo Chiara4,Gelardi Viviana4,Grosso Salvatore1,Frediani Bruno4,Renieri Alessandra5ORCID,Cantarini Luca4ORCID

Affiliation:

1. Clinical Pediatrics, Department of Molecular Medicine and Development, University of Siena, Siena, Italy

2. Institute of Pediatrics, Fondazione Policlinico A. Gemelli IRCCS, Rome, Italy

3. Periodic Fever Research Center, Università Cattolica Sacro Cuore, Rome, Italy

4. Research Center of Systemic Autoinflammatory Diseases and Behçet’s Disease Clinic, Department of Medical Sciences, Surgery and Neurosciences, University of Siena, Siena, Italy

5. Medical Genetics, University Hospital of Siena, Siena, Italy

Abstract

Monogenic autoinflammatory diseases (mAIDs) are inherited errors of innate immunity characterized by systemic inflammation recurring with variable frequency and involving the skin, serosal membranes, synovial membranes, joints, the gastrointestinal tube, and/or the central nervous system, with reactive amyloidosis as a potential severe long-term consequence. Although individually uncommon, all mAIDs set up an emerging chapter of internal medicine: recent findings have modified our knowledge regarding mAID pathophysiology and clarified that protean inflammatory symptoms can be variably associated with periodic fevers, depicting multiple specific conditions which usually start in childhood, such as familial Mediterranean fever, tumor necrosis factor receptor-associated periodic syndrome, cryopyrin-associated periodic syndrome, and mevalonate kinase deficiency. There are no evidence-based studies to establish which potential genotype analysis is the most appropriate in adult patients with clinical phenotypes suggestive of mAIDs. This review discusses genetic and clinical hints for an ideal diagnostic approach to mAIDs in adult patients, as their early identification is essential to prompt effective treatment and improve quality of life, and also highlights the most recent developments in the diagnostic work-up for the most frequent hereditary periodic febrile syndromes worldwide.

Publisher

Hindawi Limited

Subject

Cell Biology,Immunology

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