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Muckle-Wells syndrome is an autoinflammatory disease, and the intermediate form of cryopyrin-associated periodic syndrome (CAPS). Signs and symptoms may include recurrent episodes of fever, skin rash, joint pain, abdominal pain, and pinkeye; progressive sensorineural deafness; and amyloidosis. It is caused by mutations in the NLRP3 gene and is inherited in an autosomal dominant manner. Treatment includes medications such as canakinumab and rilonacept.
Source: GARD Last updated on 05-01-20
Muckle-Wells syndrome can have severe consequences as a result of long-term high levels of inflammation in the body. In some patients, this leads to secondary or AA amyloidosis, an abnormal accumulation of the protein amyloid in the tissues and organs. This can become life-threatening due to a permanent build-up of amyloid in the kidneys, liver, spleen, and elsewhere. The most common clinical presentation is kidney failure.
Last updated on 05-01-20
Learning disabilities, including expressive language disorders, are generally not reported as a feature of Muckle-Wells syndrome.
The gene responsible for Muckle-Wells syndrome, called NLRP3, is also responsible for related conditions including the less severe familial cold autoinflammatory syndrome and the more severe neonatal onset multisystem inflammatory disease (also called NOMID, or CINCA). These conditions are collectively called cryopyrin associated periodic syndromes (CAPS). Some authors have suggested that the signs and symptoms of people with NLRP3 gene mutations may overlap more than previously thought. The features that typically distinguish NOMID from the other conditions include chronic aseptic meningitis, which can result in severe developmental delay and disability. While people diagnosed with Muckle- Wells syndrome generally do not have chronic aseptic meningitis, mild features of NOMID have been reported in some people with Muckle-Wells syndrome.
Last updated on 05-01-20
The United States Food and Drug Administration approved a new drug for the treatment of rare inflammatory syndromes, including Muckle-Wells syndrome, in February of 2008. More information about Muckle-Wells syndrome and this treatment can be found by clicking on the above link.
Last updated on 04-27-20
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