Muckle–Wells syndrome
| Muckle–Wells syndrome | |
|---|---|
| Classification and external resources | |
| Specialty | Lua error in Module:Wikidata at line 446: attempt to index field 'wikibase' (a nil value). |
| ICD-10 | E85.0, L50.8 |
| OMIM | 191900 |
| DiseasesDB | 30159 |
| Patient UK | Muckle–Wells syndrome |
| MeSH | D056587 |
Muckle–Wells syndrome (MWS), also known as (UDA),[1] is a rare autosomal dominant disease which causes sensorineural deafness, recurrent hives, and can lead to amyloidosis. Individuals with MWS often have episodic fever, chills, and joint pain. As a result, MWS is considered a type of periodic fever syndrome. MWS is caused by a defect in the CIAS1 gene which creates the protein cryopyrin. MWS is closely related to two other syndromes, familial cold urticaria and neonatal onset multisystem inflammatory disease—in fact, all three are related to mutations in the same gene and subsumed under the term cryopyrin-associated periodic syndromes (CAPS).
Contents
Sign and symptoms
- Sensorineural deafness
- Recurrent urticaria (hives)
- Fevers
- Chills
- Arthralgia (painful joints)
Possible causes
MWS occurs when a mutation in the CIAS1 gene leads to increased activity of the protein cryopyrin. This protein is partly responsible for the body's response to damage or infection. During these states, a chemical called interleukin 1β is produced by an immune cell known as a macrophage. This chemical interacts with a receptor on the surface of other immune cells to produce symptoms of inflammation such as fever, arthritis, and malaise. In MWS, the increased activity of cryopyrin leads to an increase in interleukin 1β. This leads to inflammation all throughout the body with the associated symptoms.[2]
Treatment
- Treatment with anakinra, an interleukin 1 receptor antagonist, can lead to an improvement in the hearing loss.[3]
- Rilonacept (Arcalyst) a dimeric fusion protein for the treatment of CAPS.
- Canakinumab, a monoclonal antibody against interleukin-1β
Prognosis
The chronic inflammation present in MWS over time can lead to deafness. In addition, the prolonged inflammation can lead to deposition of proteins in the kidney, a condition known as amyloidosis.
History
MWS was first described in 1962 by Thomas James Muckle (born 1938) and Michael Vernon Wells (born 1932).[4]
Society and culture
In the episode of popular TV series House, the main patient of the Season 7 episode Recession Proof is ultimately diagnosed with this condition.
In an episode of TV series Cake Boss, Buddy Valastro works with a girl with this condition through Make-A-Wish Foundation.
See also
- Familial cold urticaria, a similar disease
- List of cutaneous conditions
- NOMID, a similar disease
- Urticarial syndromes
External links
- NOMID Alliance, a non-profit charity devoted to CAPS diseases
- Muckle-Wells Syndrome Community on RareShare
References
- ↑ ORPHANET - About rare diseases - About orphan drugs
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