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Muckle-Wells cryopyrinopathy: complex phenotyping and response to therapy in a new multiplex kindred
Alexander P Headley1, Frank Cordingley, Phillip N Hawkins
1Department of Immunology, Concord Hospital, Hospital Rd, Concord, NSW 2139, Australia.
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.
Insights
Muckle-Wells syndrome, a rare auto-inflammatory disease, often has diagnostic delays. IL-1 blockade therapy shows promise in treating multi-organ inflammation and may reverse infertility.
Area of Science:
- Immunology
- Genetics
- Rheumatology
Background:
- Muckle-Wells syndrome (MWS) is a cryopyrin-associated periodic syndrome characterized by urticaria, sensorineural deafness, and amyloidosis.
- Interleukin-1 (IL-1) blockade is an established treatment for MWS.
- This study details a novel kindred with MWS, examining their clinical, laboratory, and genotypic features.
Observation:
- Five family members presented with multi-organ inflammatory symptoms consistent with MWS.
- A significant diagnostic delay of approximately 30 years was observed in the proband.
- Fever was not a consistent symptom across all affected individuals.
Findings:
- Anti-IL-1 therapy in the proband led to improvements in patient-reported symptoms and inflammatory markers.
- Therapy also improved auditory acuity and reversed infertility in the proband.
- The study highlights the multisystemic nature of MWS and the impact of delayed diagnosis.
Implications:
- Early diagnosis of MWS is crucial for effective treatment and management.
- IL-1 inhibition offers potential benefits beyond symptom control, including reversal of infertility.
- This research underscores the importance of recognizing MWS as a rare, multisystem auto-inflammatory disorder.
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