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Muckle-Wells syndrome
Other Names for this Disease
- Muckle Wells syndrome
- UDA syndrome
- Urticaria, deafness and amyloidosis
- Urticaria-deafness-amyloidosis syndrome
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Overview
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. It is caused by mutations in the gene called NLRP3 or CIAS1. This gene tells the body how to make a protein called cryopyrin. Cryopyrin helps to regulate our bodies process of inflammation.[1] Cryopyrin defects are also responsible for familial cold autoinflammatory syndrome and chronic infantile neurological cutaneous and articular syndrome. Together these syndromes are referred to as “Cryopyrin-Associated Periodic Syndromes.” A new treatment called “Arcalyst” has been approved for treatment of these disorders and has shown dramatic affect against the inflammatory symptoms of Muckle-Wells syndrome.[2][3]
References
- Muckle-Wells syndrome. Genetic Home Reference. http://ghr.nlm.nih.gov/condition=mucklewellssyndrome. Accessed April 10, 2009.
- Neven B, Prieur A, Maire PQ. Cryopyrinopathies: Update on Pathogenesis and Treatment. Nature Clinical Practice. http://www.nature.com/nrrheum/journal/v4/n9/pdf/ncprheum0874.pdf. Accessed April 10, 2009.
- Grateau G. Muckle-Wells syndrome. Orphanet encyclopedia. http://www.orpha.net/data/patho/GB/uk-MWS.pdf. Accessed April 10, 2009.
Your Questions Answered
by the Genetic and Rare Diseases Information Center1 question(s) from the public on Muckle-Wells syndrome have been answered. See questions and answers. You can also submit a new question.
On this page
General Information
- The Cleveland Clinic provides an overview of the different types of periodic fever syndromes.
- Genetics Home Reference (GHR) contains information on Muckle-Wells syndrome. Click on the link to go to GHR and review the information.
- The United States Food and Drug Administration approved a new drug for the treatment of rare inflammatory syndromes, including Muckle-Wells syndrome, in February of 2008. More information about Muckle-Wells syndrome and this treatment can be found by clicking on the above link.
- The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Muckle-Wells syndrome. Click on the link to view a sample search on this topic.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Muckle-Wells syndrome. Click on the link to go to OMIM and review these resources.
Selected Full-Text Journal Articles
- Leigh D Church, Sinisa Savic, and Michael F McDermott; Long term management of patients with cryopyrin-associated periodic syndromes (CAPS): focus on rilonacept (IL-1 Trap), Biologics. 2008 December; 2(4): 733–742.
- Grateau G. Muckle-Wells syndrome. Orphanet encyclopedia. 2003.