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Diana Mossop

Muckle-wells syndrome

Definition

First described in 1962 by Thomas James Muckle and Michael Vernon Wells, Muckle-Wells syndrome is also known as Urticaria-deafness-amyloidosis (UDA). It is a rare autosomal disease, which causes sensorineural deafness, recurrent hives, and can lead to amyloidosis. MWS happens when a mutation in the CIAS1 gene leads to increased activity of the cryopyrin protein. The disorder is closely related to two other syndromes, familial cold urticaria and neonatal onset multisystem inflammatory disease.

Diagnosis

Diagnostic criteria are purely clinical but genetic diagnosis is considered currently feasible. There are only moderate non-specific signs of inflammation during the course of inflammatory attacks associated to the disorder. Biochemical analyses may be useful to exclude certain diseases that can be considered as a function of the clinical signs present.

Symptoms and Signs

The common symptom for MWS is inflammation all over the body, which includes, fever, arthritis, and malaise. The chronic inflammation associated with MWS can lead to deafness. Prolonged inflammation can also lead to deposition of proteins in the kidney, a condition known as amyloidosis.

Causes

The disease is caused by a defect in the CIAS1 gene, which creates the protein cryopyrin.

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