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Other Names for this Disease
- Muckle Wells syndrome
- UDA syndrome
- Urticaria, deafness and amyloidosis
- Urticaria-deafness-amyloidosis syndrome
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NLRP3 or CIAS1. This gene tells the body how to make a protein called cryopyrin. Cryopyrin helps to regulate our bodies process of inflammation. 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.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
Last updated: 3/23/2010
- Muckle-Wells syndrome. Genetic Home Reference. 2009; http://ghr.nlm.nih.gov/condition=mucklewellssyndrome. Accessed 4/10/2009.
- Neven B, Prieur A, Maire PQ. Cryopyrinopathies: Update on Pathogenesis and Treatment. Nature Clinical Practice. September 2008; http://www.nature.com/nrrheum/journal/v4/n9/pdf/ncprheum0874.pdf. Accessed 4/10/2009.
- Grateau G. Muckle-Wells syndrome. Orphanet encyclopedia. 2003; http://www.orpha.net/data/patho/GB/uk-MWS.pdf. Accessed 4/10/2009.
On this page
- The Cleveland Clinic provides an overview of the different types of periodic fever syndromes.
- Genetics Home Reference (GHR) contains information on Muckle-Wells syndrome. This website is maintained by the National Library of Medicine.
- 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.
- 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.
In Depth Information
- 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.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- 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.
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.