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

Internal Medicine
Kouhei YamashitaAkifumi Takaori-Kondo

Abstract

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.

References

Jul 21, 2001·European Journal of Human Genetics : EJHG·I Touitou
Sep 5, 2003·Human Mutation·Dimitri TchernitchkoSerge Amselem
Jun 30, 2015·Nature Reviews. Urology·Jean-Jacques BodyLuís Costa
Jun 11, 2016·Current Opinion in Rheumatology·Shai Padeh, Yackov Berkun
Jul 31, 2016·Arthritis Research & Therapy·Kiyoshi MigitaAtsushi Kawakami

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