What is Muckle-Wells syndrome?
Muckle-Wells syndrome is a rare disorder that is characterized by episodes of rashes, fever, and joint pain. People affected by this condition also experience progressive hearing loss and kidney damage.
These episodes begin in infancy or childhood. While there have been cases of this syndrome reported across the world, the exact incidence is unknown.
What are the symptoms of Muckle-Wells syndrome?
People with this condition experience recurrent episodes of rashes, fevers, and joint pain. Conjunctivitis may also be a symptom of a flare-up. These episodes can be sporadic, but they can also be triggered by cold, heat, fatigue, or other stressors.
Progressive hearing loss due to nerve damage begins in the teenage years. About one-third of those with Muckle-Wells syndrome have kidney damage as well, which happens when there are abnormal deposits of proteins called amyloids. These deposits have the potential to damage other organs. Some also have skin lesions.
What causes Muckle-Wells syndrome?
The NLRP3 gene, which is responsible for the instructions for the protein cryopyrin, is mutated in those with Muckle-Wells syndrome. This protein helps to regulate inflammation, so when it is mutated the body has an irregular inflammatory response. This gene is inherited in an autosomal dominant pattern.
How is Muckle-Wells syndrome diagnosed?
A clinical evaluation and examination of medical and family history are the first steps in obtaining a diagnosis. Doctors will then confirm through genetic testing.
What are the treatments for Muckle-Wells syndrome?
Hearing aids are often used to treat the hearing loss. Non-steroidal anti-inflammatory medications are also used for joint pain. Corticosteroids may be helpful, but they also bring adverse effects. Drugs like arcalyst, ilaris, and kineret are all treatments for Muckle-Wells syndrome.