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Muckle-Wells syndrome: clinical perspectives.

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 1? 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.

SUBMITTER: Tran TA

PROVIDER: S-EPMC5513904 | biostudies-other | 2017

REPOSITORIES: biostudies-other

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Muckle-Wells syndrome: clinical perspectives.

Tran Tu-Anh TA

Open access rheumatology : research and reviews 20170711

Muckle-Wells syndrome (MWS) is a rare autoinflammatory disorder. It is due to <i>NLRP3</i> 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' qualit ...[more]

PMID: 28744167

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