Muckle-Wells Syndrome

Medically Reviewed by Dan Brennan, MD on March 05, 2023
Written by Kate Rope
5 min read

Muckle-Wells syndrome is a genetic disease that creates inflammation in your body. If you have it, you could get problems like recurrent fever or rashes. Your doctor can suggest treatment that curbs the inflammation and gives you some relief from symptoms.

Muckle-Wells syndrome is one of several diseases known as cryopyrin-associated periodic syndromes. In these conditions, a mutation (change) in a particular gene causes more activity of the protein cryopyrin, which creates inflammation throughout the body.

Muckle-Wells syndrome usually begins in babies or early childhood and causes "flares" throughout your life.

Muckle-Wells syndrome is caused by a mutation in the CIAs1/NLRP3 gene that is responsible for cryopyrin. The gene mutation makes cryopyrin overactive, causing your body to release another protein called interleukin-1 beta. When interleukin-1 beta goes up, so does inflammation in your body, which leads to problems like fevers, joint pain, and rashes.

Muckle-Wells syndrome is a dominant genetic disorder, which means you only need to inherit one abnormal gene from one of your parents to get the condition. In some cases, however, instead of inheriting a faulty gene, the gene changes in a person and causes Muckle-Wells syndrome.

Some of the symptoms of Muckle-Wells syndrome are similar to the symptoms of other childhood conditions, but the difference is that they keep happening every few weeks through adulthood. They're sometimes triggered by cold or hot temperatures or exercise.

Some symptoms you might get with Muckle-Wells syndrome are:

  • Rashes or hives that begin when you are a baby or in early childhood
  • Fevers that last 12 to 36 hours
  • Joint pain
  • Pinkeye (conjunctivitis), a redness and swelling in the outer layer of the eye, sometimes with a discharge
  • Hearing loss that gets worse
  • Amyloidosis, which happens when a protein that is not normally in your body, called amyloid, builds up in different parts of your body

Your doctor will ask about your symptoms and whether you have a family history of autoinflammatory conditions like Muckle-Wells syndrome.

To see if you or your child has it, they will take blood and look for the genetic mutations that cause the condition.

It helps to write down a list of questions and take it with you to your doctor's appointment. Some questions you might want to ask are:

  • Can you refer me to a specialist with experience in Muckle-Wells syndrome or genetic diseases?
  • Are there any clinical trials I should consider joining?
  • What are the possible side effects of my treatment?
  • Could I get a dangerous allergic reaction, and what should I do if I have one?
  • What can I do at home to ease my symptoms?
  • Are there any medicines or activities that I should avoid?
  • What follow-up tests or visits will I need, and how often will I need them?

Treatment for Muckle-Wells syndrome tries to lessen the inflammation that causes your symptoms and target some of the symptoms directly.

Your doctor may suggest:

  • Hearing aids if you have hearing loss
  • Nonsteroidal anti-inflammatory drugs (NSAIDs) such as ibuprofen to lower fevers and reduce joint pain
  • Corticosteroids such as prednisone to control inflammation
  • Rilonacept (Arcalyst), which is approved by the FDA to treat Muckle-Wells in adults and kids 12 and older. You take it as a shot. It works by blocking interleukin-1.
  • Canakinumab (Ilaris) is approved by the FDA to treat Muckle-Wells for adults and children 4 and older. You take it as a shot. It's a biologic medicine that blocks interleukin-1 beta from creating inflammation.
  • Anakinra (Kineret) isn't approved by the FDA to treat Muckle-Wells, but some doctors prescribe it. It also blocks interleukin-1.

It's important to work with a doctor who understands your condition and will help you choose the most effective treatment with the fewest side effects. But there are things you can do on your own to manage some of the symptoms of Muckle-Wells syndrome.

Rash. If your rash is itchy, try over-the-counter creams or talk to your doctor about prescription options. Wear loose fitting, soft, comfortable clothing.

Fever. Try over-the-counter NSAIDs such as ibuprofen to lower a fever. Wear light, loose-fitting clothing and drink plenty of fluids to avoid dehydration. If your child is uncomfortable, a lukewarm bath can help.

Joint pain. Try over-the counter pain relievers such as acetaminophen and ibuprofen. Talk with your doctor about prescription options as well.

Pinkeye. Apply a cold or warm compress to help with itching and discomfort. Over-the-counter eye drops that mimic natural tears may also provide some relief. If you wear contacts, take a break from them.

The new medications that target interleukin-1 have made Muckle-Wells syndrome easier to manage. They also have the benefit of lowering the risks of side effects from corticosteroids, which were the only treatment in the past.

The new medicines can help keep flares at bay for a longer period of time and make it much less likely that you will develop the more serious complications of the condition.

Muckle-Wells syndrome can become more severe as you age. It may not be that uncomfortable in childhood, but the more serious symptoms of the condition, such as hearing loss and amyloidosis, may show up later in your life.

Hearing loss may set in during the teen years, and amyloidosis, which only affects 1/3 of people with the condition, may begin in adulthood. Amyloidosis can lead to kidney damage.

It's important to reach out to family and friends who can give you the emotional backing you need as you manage your condition. Also look for support groups, where you can talk to others with Muckle-Wells syndrome who understand just what you're going through.

To find a support group, visit the web sites of RareConnect, the Autoinflammatory Alliance, or the National Organization for Rare Diseases.

If you find that the challenges of managing your disease are making you depressed or anxious, talk to your doctor. They can put you in touch with mental health professionals who are experts in treating these problems.