Muckle Wells syndrome

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Muckle Wells syndrome (pronounced: muck-ul wells sin-drome) is a rare, genetic disorder characterized by recurrent episodes of fever, skin rash, and joint pain.

Etymology

The syndrome is named after Thomas James Muckle and Michael Vernon Wells, who first described it in 1962.

Symptoms

The primary symptoms of Muckle Wells syndrome include:

  • Fever: Recurrent episodes of fever are a common symptom.
  • Skin rash: Patients often experience rashes that are red and patchy.
  • Joint pain: This is another common symptom, which can be severe and debilitating.

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 and infection. Mutations in the NLRP3 gene lead to an overactive immune response, resulting in the symptoms of Muckle Wells syndrome.

Diagnosis

Diagnosis of Muckle Wells syndrome is based on the presence of characteristic symptoms, a family history of the condition, and genetic testing to identify mutations in the NLRP3 gene.

Treatment

Treatment for Muckle Wells syndrome primarily involves managing symptoms. This can include the use of anti-inflammatory medications to reduce fever and inflammation, and pain relievers to manage joint pain. In some cases, a medication called anakinra may be used to block the overactive immune response caused by NLRP3 gene mutations.

Prognosis

The prognosis for individuals with Muckle Wells syndrome varies. Some people may experience mild symptoms and have a normal lifespan, while others may have severe symptoms that can lead to complications such as hearing loss and kidney damage.

See also

External links

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