Familial Mediterranean Fever Mutations in a Patient with Periodic Episodes of Systemic Pain Deriving from Cancer Bone Metastases

摘要

Familial Mediterranean fever (FMF), the most common autoinflammatory disorder, is characterized by recurrent febrile attacks and polyserositis. FMF is caused by mutations in MEFV, which encodes pyrin. In this report, we present an atypical FMF case with E148Q/L110P mutations in MEFV. The patient experienced periodic episodes of systemic pain originating from prostate cancer bone metastases. The pain attacks were prevented by continuous prophylactic therapy with colchicine. In this case, the presence of atypical FMF may have modulated the clinical manifestations of cancer bone metastases. To our knowledge, this is the first report to demonstrate the potential modulatory effect of MEFV mutations on cancer manifestations.