Muckle-Wells syndrome
From Descipher Health
Description:
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Synonyms
MWS, urticaria-deafness-amyloidosis syndrome, UDA syndrome
Cause
Muckle Wells Syndrome is a rare genetic disease which is characterized by a non-itchy rash resulting from the release of histamine by mast cells (large cells in the connective tissue) in the body (non-pruritic urticaria) which starts during infancy. This disorder is caused by a mutation in the CIAS1 gene (cold-induced autoinflammatory syndrome 1) which is located on the long arm of chromosome 1.
Population Distribution
Effects
Symptoms
- abdominal pain
- rashes on skin
Signs
near chronic conjunctivitis, periodic fevers, hives or various skin rashes that are sometimes painful or itchy, limb, joint and muscular pain, deafness usually occurs in adolescense
Diagnostic Tests
Differential Diagnosis
Treatment
A new drug by amgen called Anakinra has greatly improved the levels of inflammation and various symptoms of this disease and also has shown in some cases to improve the sensoryneural deafness in many patients.
