Muckle

Muckle-Wells syndrome (MWS) is a rare, genetic disorder characterized by recurrent episodes of fever, skin rash, joint pain, and progressive sensorineural hearing loss. It is part of the larger family of diseases known as Cryopyrin-Associated Periodic Syndromes (CAPS), which also includes Familial Cold Autoinflammatory Syndrome (FCAS) and Neonatal-Onset Multisystem Inflammatory Disease (NOMID).

Symptoms[edit | edit source]

The symptoms of Muckle-Wells syndrome can vary greatly from person to person. However, common symptoms include:

Recurrent episodes of fever
Skin rash
Joint pain
Progressive sensorineural hearing loss
Amyloidosis (in some cases)

Causes[edit | edit source]

Muckle-Wells syndrome is caused by mutations in the NLRP3 gene. This gene provides instructions for making a protein that helps the body respond to injury or stress. Mutations in the NLRP3 gene lead to continuous activation of the protein, causing inflammation and the symptoms of Muckle-Wells syndrome.

Diagnosis[edit | edit source]

Diagnosis of Muckle-Wells syndrome is based on the presence of characteristic symptoms and confirmed by genetic testing showing a mutation in the NLRP3 gene.

Treatment[edit | edit source]

Treatment for Muckle-Wells syndrome is aimed at managing symptoms and preventing complications. This may include:

Anti-inflammatory drugs to reduce inflammation and fever
Hearing aids to manage hearing loss
Canakinumab and Rilonacept, which are medications that block the activity of the protein produced by the NLRP3 gene

See also[edit | edit source]

Muckle Resources
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