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Published on: September 19, 2019
Risk factors for severe Muckle-Wells syndrome
Jasmin B Kümmerle-Deschner1, Pascal N Tyrrell, Fabian Reess
1University Hospital Tuebingen, Tuebingen, Germany.
Objective:
Muckle-Wells syndrome (MWS) is an inherited autoinflammatory disease resulting in excessive interleukin-1 release. It is unknown whether demographic, clinical, or laboratory characteristics at the time of diagnosis may identify patients who are at high risk for severe disease activity. This study was undertaken to analyze clinical and laboratory features of MWS, compare genetically defined subcohorts, and identify risk factors for severe MWS.
Methods:
A multicenter cohort study of consecutive MWS patients was performed. Parameters assessed included clinical features, MWS Disease Activity Score (MWS-DAS), inflammation markers, and cytokine levels. E311K mutation-positive patients were compared with E311K mutation-negative patients. Putative risk factors for severe MWS (defined as an MWS-DAS score of ≥10) were assessed in univariate analyses, and significant predictors were entered into a multivariate model.
Results:
Thirty-two patients (15 male and 17 female) were studied. The most frequent organ manifestations were musculoskeletal symptoms and eye and skin disorders. Renal disease and hearing loss were seen in >50% of the patients. Genetically defined subcohorts had distinct phenotypes. Severe disease activity was documented in 19 patients (59%). Predictors of severe MWS identified at the time of diagnosis were female sex, hearing loss, musculoskeletal disease, increased erythrocyte sedimentation rate, and low hemoglobin level. Female sex and hearing loss remained significant after adjustment for age in a multivariate model (relative risk 1.8 and 2.6, respectively).
Conclusion:
MWS patients at high risk for severe disease can be identified at the time of diagnosis. Female patients presenting with hearing loss have the highest likelihood of manifesting severe MWS and should be considered a high-risk group.
Insights
Muckle-Wells syndrome (MWS) patients at high risk for severe disease can be identified at diagnosis. Female patients with hearing loss are most likely to experience severe MWS and require close monitoring.
Area of Science:
- Autoinflammatory diseases
- Genetics and immunology
- Rare genetic disorders
Background:
- Muckle-Wells syndrome (MWS) is an inherited autoinflammatory disorder characterized by excessive interleukin-1 release.
- Identifying early indicators of severe MWS is crucial for patient management.
Purpose of the Study:
- To analyze clinical and laboratory features of MWS patients.
- To compare genetically defined subcohorts.
- To identify risk factors for severe MWS.
Main Methods:
- A multicenter cohort study assessed clinical features, MWS Disease Activity Score (MWS-DAS), inflammation markers, and cytokine levels.
- Compared E311K mutation-positive and negative patients.
- Used univariate and multivariate analyses to identify risk factors for severe MWS (MWS-DAS ≥10).
Main Results:
- Thirty-two MWS patients were studied; 59% exhibited severe disease activity.
- Key predictors of severe MWS at diagnosis included female sex, hearing loss, musculoskeletal disease, elevated ESR, and low hemoglobin.
- Female sex and hearing loss remained significant predictors in multivariate analysis.
Conclusions:
- High-risk MWS patients can be identified at diagnosis.
- Female patients with hearing loss represent a high-risk group for severe MWS.
- Early identification facilitates timely intervention and management strategies.
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