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Muckle–Wells syndrome: clinical perspectives

Authors Tran TA

Received 3 February 2017

Accepted for publication 16 May 2017

Published 11 July 2017 Volume 2017:9 Pages 123—129

DOI https://doi.org/10.2147/OARRR.S114447

Checked for plagiarism Yes

Review by Single anonymous peer review

Peer reviewer comments 3

Editor who approved publication: Professor Chuan-Ju Liu


Tu-Anh Tran

Department of Pediatrics, Nîmes University Hospital, INSERM U1183, Montpellier-Nîmes University, Nîmes, France

Abstract: Muckle–Wells syndrome (MWS) is a rare autoinflammatory disorder. It is due to NLRP3 gene mutations, responsible for excessive caspase-1 activation and interleukin 1β processing. MWS is the intermediate phenotype of severity of cryopyrin-associated periodic syndrome. Urticarial rash, conjunctivitis, recurrent fever, arthralgia, and fatigue are the main clinical manifestations of MWS. Yet, sensorineural hearing loss and renal amyloidosis can occur after long term evolution. Patients’ quality of life has been drastically improved with the advent of IL-1 inhibitors. This review reports recent findings in MWS, particularly genotype/phenotype correlation, and discusses the clinical perspectives of this disease in a time of efficient treatment.

Keywords:
Muckle–Wells syndrome, anti-interleukin 1, anakinra, rilonacept, canakinumab, clinical presentation, cryopyrin-associated periodic syndrome, CAPS, NLRP3 gene

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