Muckle-Wells syndrome

[MIM 191 900]

see also periodic familial fevers        

(UDA)

Unknown incidence. Autosomal dominant transmission of a mutation of the  CIAS1 or RPLNS 3 gene on 1q44. This gene codes for the cryopyrine. Other mutations of the same gene produce the FCAS (Familial Cold Autoinflammatory Syndrome) and CINCA syndrome (Chronic Infantile Neurological Cutaneous and Articular).


Clinical presentation: non itchy rash crises, moderately febrile, caused by cold, heat, stress... There are also arthralgias and conjunctivitis. Generalized amyloidosis of AA type develops in some cases. A sensorineural deafness appears in adolescence.


Anesthetic implications:

check renal function; avoid contact with cold objects


References : 


Updated: October 2016