Monogenic Periodic Fever Syndromes: Treatment Options for the Pediatric Patient

Paediatric Drugs
Seza Ozen, Selcan Demir

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.

References

Aug 1, 1991·Arthritis and Rheumatism·D ZemerE Sohar
Apr 17, 1986·The New England Journal of Medicine·D ZemerJ Gafni
Sep 1, 1997·Nature Genetics·UNKNOWN French FMF Consortium
Jan 5, 2000·QJM : Monthly Journal of the Association of Physicians·H A MajeedH M Shahin
Sep 14, 2000·Baillière's Best Practice & Research. Clinical Rheumatology·A Livneh, P Langevitz
Apr 30, 2004·Clinical Pharmacology and Therapeutics·Anna SimonJoost P H Drenth
Aug 11, 2006·The New England Journal of Medicine·Raphaela Goldbach-ManskyDaniel L Kastner
Jun 29, 2007·The New England Journal of Medicine·Bénédicte NevenAlain Fischer
Sep 28, 2007·The New England Journal of Medicine·Peter D ArkwrightAndrew J Cant
Feb 9, 2008·Journal of Cutaneous Medicine and Surgery·J Barrie RossPhilip N Hawkins
Nov 18, 2008·Medicine·Jeroen C H van der HilstUNKNOWN International HIDS Study Group
Mar 24, 2009·Annual Review of Immunology·Seth L MastersDaniel L Kastner
Jun 6, 2009·The New England Journal of Medicine·Helen J LachmannUNKNOWN Canakinumab in CAPS Study Group
Dec 17, 2010·The Journal of Rheumatology·Seza OzenMeral Calguneri
Feb 1, 2011·Seminars in Arthritis and Rheumatism·Ulrich MeinzerIsabelle Koné-Paut
Sep 29, 2011·Journal of Clinical Rheumatology : Practical Reports on Rheumatic & Musculoskeletal Diseases·Sule Apras BilgenMeral Calguneri
Mar 13, 2012·American Journal of Transplantation : Official Journal of the American Society of Transplantation and the American Society of Transplant Surgeons·S ChaudhuryP F Whitington
Apr 14, 2012·Acta Oto-laryngologica·Assen KoitschevJasmin B Kuemmerle-Deschner
Jun 5, 2012·Annals of the Rheumatic Diseases·Y ShinarUNKNOWN European Molecular Genetics Quality Network
Jun 29, 2012·The Journal of Pediatrics·Shai PadehYackov Berkun
Jun 29, 2012·Rheumatology·Caroline GaleottiIsabelle Koné-Paut
Jul 4, 2012·Annals of the Rheumatic Diseases·Nienke Ter HaarUNKNOWN Paediatric Rheumatology International Trials Organisation (PRINTO) and the Eurofever/Eurotraps Projects
Jul 26, 2012·Nature Reviews. Immunology·Heiyoung ParkRichard M Siegel
Oct 17, 2012·Annals of Internal Medicine·Philip J HashkesDaniel J Lovell
Feb 27, 2013·Arthritis and Rheumatism·Jasmin B Kuemmerle-DeschnerSusanne M Benseler
Jul 23, 2013·Clinical Pharmacology and Therapeutics·I GrattaglianoP Portincasa
Aug 24, 2013·Mediators of Inflammation·Antonio VitaleLuca Cantarini

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Citations

May 16, 2019·Pediatric Rheumatology Online Journal·Clara Westwell-RoperKelly L Brown
Dec 9, 2021·Der Internist·Stephen GilbertAnnette Doris Wagner

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