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

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

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

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

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

• Cryopyrin-Associated Periodic Syndromes
• Familial Cold Autoinflammatory Syndrome
• Neonatal-Onset Multisystem Inflammatory Disease

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