Hearing improvement in a patient with variant Muckle-Wells syndrome in response to interleukin 1 receptor antagonism.
BACKGROUND
Muckle-Wells syndrome (MWS), familial cold autoinflammatory syndrome, and neonatal onset multisystem inflammatory disease, also called chronic, infantile, neurological, cutaneous, and articular syndrome, are three hereditary autoinflammatory syndromes caused by mutations affecting the CIAS1/NALP3 gene on chromosome 1q44. The proinflammatory cytokine, interleukin 1beta, is believed to have a fundamental role in their pathogenesis.


METHODS
The case is described of a 59 year old white woman who presented with increasingly severe MWS-type features over a 15 year period. The response to interleukin 1beta inhibition with anakinra was dramatic, including a reduction in intracranial pressure with associated auditory improvement, as demonstrated by serial audiometry.


CONCLUSIONS
The confirmed improvement in hearing after initiation of interleukin 1 receptor antagonism corroborates previous reports that specific blockade of this single cytokine reverses most of the symptoms of this group of CIAS1/NALP3 related autoinflammatory conditions, including the sensorineural deafness, which has not been previously reported.
Rynne
M
M
Academic Unit of Musculoskeletal Disease, Department of Rheumatology, Leeds General Infirmary, UK.
Maclean
C
C
Bybee
A
A
McDermott
M F
MF
Emery
P
P
D018501:Antirheumatic Agents / Q000627:therapeutic use*; D001327:Autoimmune Diseases / Q000188:drug therapy; D010505:Familial Mediterranean Fever / Q000188:drug therapy*; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000188:drug therapy*; D006801:Humans; D053590:Interleukin 1 Receptor Antagonist Protein; D008875:Middle Aged; D017472:Receptors, Interleukin-1 / Q000037:antagonists & inhibitors*; D012795:Sialoglycoproteins / Q000627:therapeutic use*; D016896:Treatment Outcome
D018501:Antirheumatic Agents; C507763:IL1RN protein, human; D053590:Interleukin 1 Receptor Antagonist Protein; D017472:Receptors, Interleukin-1; D012795:Sialoglycoproteins