Muckle–Wells syndrome



What is Muckle-Wells syndrome?

Muckle-Wells syndrome is a disorder characterized by periodic episodes of skin rash, fever, and joint pain. Progressive hearing loss and kidney damage also occur in this disorder.

How common is Muckle-Wells syndrome?

Muckle-Wells syndrome is a rare disorder. It has been reported in many regions of the world, but its prevalence is unknown. Please discuss with your doctor for further information.


What are the symptoms of Muckle-Wells syndrome?

People with Muckle-Wells syndrome have recurrent “flare-ups” that begin during infancy or early childhood. These episodes may appear to arise spontaneously or be triggered by cold, heat, fatigue, or other stresses. Affected individuals typically develop a non-itchy rash, mild to moderate fever, painful and swollen joints, and in some cases redness in the whites of the eyes (conjunctivitis).

Hearing loss caused by progressive nerve damage (sensorineural deafness) typically becomes apparent during the teenage years. Abnormal deposits of a protein called amyloid (amyloidosis) cause progressive kidney damage in about one-third of people with Muckle-Wells syndrome; these deposits may also damage other organs. In addition, pigmented skin lesions may occur in affected individuals.

There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.

When should I see my doctor?

If you have any signs or symptoms listed above or have any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.


What causes Muckle-Wells syndrome?

The root cause of Muckle-Wells syndrome is the mutation in gene CIAS1. This gene is responsible for protein cryopyrin. As a result of the mutation, excess amount of the protein cryopyrin is produced. This protein is responsible for regulation of another protein called interleukin which is responsible for inflammation. An increase in interleukin results in increased inflammatory response causing the characteristic features like fever, joint pain, and rashes of Muckle-Wells syndrome.

This condition follows an autosomal dominant pattern of inheritance meaning that one copy of the defective gene from either parent is enough for a child to develop Muckle-Wells syndrome.

Risk factors

What increases my risk for Muckle-Wells syndrome?

Please consult with your doctor for further information.

Diagnosis & treatment

The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.

How is Muckle-Wells syndrome diagnosed?

The diagnosis of Muckle-Wells syndrome is made by looking at the presenting features of the patient along with certain specialized tests. A genetic test will be done which will clearly show mutation in gene CIAS1 gene which will confirm the diagnosis of Muckle-Wells syndrome.

How is Muckle-Wells syndrome treated?

The hearing loss that is caused by Muckle-Wells syndrome can be treated with hearing aids while for joint pains NSAIDs are mostly preferred as a treatment for Muckle-Wells syndrome.

High dose steroids have also been shown to be beneficial albeit with some undesirable side effects in some cases of Muckle-Wells syndrome. Apart from this, treatment is only symptomatic for Muckle-Wells syndrome. Arcalyst and Ilaris are some of the medications most preferred for treatment of Muckle-Wells syndrome.

Lifestyle changes & home remedies

What are some lifestyle changes or home remedies that can help me manage Muckle-Wells syndrome?

If you have any questions, please consult with your doctor to better understand the best solution for you.

Hello Health Group does not provide medical advice, diagnosis or treatment.

Review Date: January 30, 2018 | Last Modified: February 22, 2018

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