Muckle-Wells Syndrome (MWS)

What is Muckle-Wells Syndrome?

Muckle-Wells Syndrome (MWS) is a rare genetic connective tissue disorder that affects the skin, joints, and kidneys. It is characterized by recurrent episodes of hives, fever, chills, and joint pain. It is caused by a mutation in the NLRP3 gene, which affects the body's immune system and affects other organs and tissues. The disease is more common in people of European descent.

Symptoms of Muckle-Wells Syndrome

The main symptoms of Muckle-Wells Syndrome include:

  • Frequent episodes of hives (urticaria)
  • Fever, with temperatures reaching up to 104°F
  • Chills
  • Joint pain and swelling
  • Fatigue
  • Muscle weakness and/or pain
  • Headache
  • Mouth sores
  • Red eyes
  • Breathing difficulties
  • Kidney problems (nephropathy)

Diagnosis and Treatment of Muckle-Wells Syndrome

The diagnosis of Muckle-Wells Syndrome is based on family history, physical examination, blood tests, and skin biopsy. Molecular testing may also be used to diagnose the disorder.

Treatment of Muckle-Wells Syndrome is focused on controlling the symptoms, such as reducing the fever, managing the hives, and relieving the joint pain. Patients may also be prescribed medication to reduce inflammation and prevent kidney problems. In some cases, additional treatments such as physical therapy and topical antihistamines may be used.