Muckle-Wells cryopyrinopathy: complex phenotyping and response to therapy in a new multiplex kindred.
Inflammation
; 37(2): 396-401, 2014 Apr.
Article
en En
| MEDLINE
| ID: mdl-24150829
ABSTRACT
Muckle-Wells syndrome (MWS) is a member of the cryopyrin-associated periodic syndrome family of auto-inflammatory diseases, originally described as a triad of urticaria, sensorineural deafness and amyloidosis. IL-1 blockade is a proven therapy for MWS. The clinical, laboratory and genotypic characteristics of a novel kindred of five individuals with Muckle-Wells syndrome are described. Response to IL-1 blockade therapy in the proband was evaluated. All five affected family members experienced symptoms of multi-organ inflammation. Lead time between symptom onset and diagnosis was approximately 30 years in the proband. Fever was not a universal feature in all affected family members. Anti-IL-1 therapy in the proband resulted in improvements in patient-reported symptoms, inflammatory markers, auditory acuity and reversal of her infertility. Muckle-Wells syndrome is a rare, multisystem, auto-inflammatory syndrome. Delay in diagnosis prevents effective treatment. We propose reversal of infertility to be among the potential benefits of IL-1 inhibition in this disease.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Interleucina-1
/
Mediadores de Inflamación
/
Proteína Antagonista del Receptor de Interleucina 1
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Síndromes Periódicos Asociados a Criopirina
/
Antiinflamatorios
Tipo de estudio:
Diagnostic_studies
Límite:
Adult
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
Inflammation
Año:
2014
Tipo del documento:
Article
País de afiliación:
Australia