Background/Purpose: The diagnosis of Muckle-Wells syndrome remains challenging due to the variable and often non-specific clinical presentation. The aim of this study was to identify key variables associated with time to diagnosis in patients with MWS.

Methods: A cohort study of consecutive patients with a clinical diagnosis of MWS plus genetic evidence of an NLRP3-mutation was conducted at two centres for autoinflammatory diseases. Demographic information, mutation subtype, clinical phenotype, detailed access to care data, and information about duration of symptoms and preclinical evaluation were collected. Presenting variables were compared between groups of patients with a diagnosis in childhood compared to adulthood.

Results: A total of 34 patients were included (16 males, 18 females), the median age at diagnosis of MWS was 31.5 years (0.5-75). Patients diagnosed during childhood most commonly complained of musculoskeletal symptoms (62%), fever (54%), headache (46%) and abdominal pain (31%), while those diagnosed as adults had musculoskeletal symptoms (86%), hearing loss (52%) and decreased performance (29%). Data driven clustering strategies identified two distinct clinical phenotypes of MWS: the “inflammatory phenotype”, most commonly found in patients diagnosed in childhood was associated with fever, rash, headache and abdominal pain. Patients diagnosed as adults showed a more “organ –disease” phenotype characterized by musculoskeletal symptoms, skin rash, hearing loss and eye disease.

Conclusion: Two distinct clinical phenotypes may be identified in patients with MWS. These are closely related to the time of diagnosis. The presence of these two distinct clinical phenotypes has to be considered when developing diagnostic criteria for MWS.

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ACR Meeting Abstracts - https://acrabstracts.org/abstract/recognizing-two-distinct-clinical-phenotypes-in-muckle-wells-syndrome/