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Pediatric Drugs
Published in: Pediatric Drugs 4/2017

01-08-2017 | Review Article

Monogenic Periodic Fever Syndromes: Treatment Options for the Pediatric Patient

Authors: Seza Ozen, Selcan Demir

Published in: Pediatric Drugs | Issue 4/2017

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Abstract

Autoinflammatory diseases are disorders of the innate immune system characterized by uncontrolled inflammation. The most commonly encountered autoinflammatory diseases are the hereditary periodic fever syndromes, which present with fever and other features of the skin, serosal membranes, and musculoskeletal system. The main inherited (monogenic) periodic fever syndromes are familial Mediterranean fever (FMF), cryopyrin-associated periodic syndrome (CAPS), tumor necrosis factor receptor-associated periodic syndrome (TRAPS), and hyperimmunoglobulin D syndrome (HIDS)/mevalonate kinase deficiency (MKD). Recent advances in our understanding of the molecular and pathophysiological basis of autoinflammatory diseases have provided new treatment strategies. Patients with periodic fever syndromes have clearly benefited from anti-interleukin (IL)-1 treatment. Colchicine is still the mainstay of FMF therapy, but IL-1 blockade is also effective if colchicine fails. Early diagnosis and effective treatment can prevent irreversible organ damage. The scope of pathogenic mutations and more targeted therapy for better management of these rare diseases remains to be defined.
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Metadata
Title
Monogenic Periodic Fever Syndromes: Treatment Options for the Pediatric Patient
Authors
Seza Ozen
Selcan Demir
Publication date
01-08-2017
Publisher
Springer International Publishing
Published in
Pediatric Drugs / Issue 4/2017
Print ISSN: 1174-5878
Electronic ISSN: 1179-2019
DOI
https://doi.org/10.1007/s40272-017-0232-6

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