Abstract
Patients with more than one autoinflammatory disorder are rarely reported in the literature [1]. Additionally, rare reports suggest that MEFV mutations might be associated with atypical manifestations for familial Mediterranean fever (FMF), such as isolated recurrent muscle pain in one patient [2] and chronic recurrent multifocal osteomyelitis (CRMO) responsive to colchicine in another patient heterozygote for E148Q-P369S-R408Q MEFV complex allele [3]. We report a unique case of a patient with classic FMF developing CRMO later in the disease and discuss genetic test results, imaging features, and response to treatment.
Highlights
Patients with more than one autoinflammatory disorder are rarely reported in the literature [1]
Rare reports suggest that MEFV mutations might be associated with atypical manifestations for familial Mediterranean fever (FMF), such as isolated recurrent muscle pain in one patient [2] and chronic recurrent multifocal osteomyelitis (CRMO) responsive to colchicine in another patient heterozygote for E148Q-P369S-R408Q MEFV complex allele [3]
We report a unique case of a patient with classic FMF developing CRMO later in the disease and discuss genetic test results, imaging features, and response to treatment
Summary
Patients with more than one autoinflammatory disorder are rarely reported in the literature [1]. Rare reports suggest that MEFV mutations might be associated with atypical manifestations for familial Mediterranean fever (FMF), such as isolated recurrent muscle pain in one patient [2] and chronic recurrent multifocal osteomyelitis (CRMO) responsive to colchicine in another patient heterozygote for E148Q-P369S-R408Q MEFV complex allele [3]. We report a unique case of a patient with classic FMF developing CRMO later in the disease and discuss genetic test results, imaging features, and response to treatment
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