2018•Internal MedicineOpen access
Five Cases of Familial Mediterranean Fever in Japan: The Relationship with MEFV Mutations
Kazuki Kimura, Masafumi Mizooka, Kiyoshi Migita, Ryoko Ishida, Masatoshi Matsumoto, Satoshi Yamasaki, Nobusuke Kishikawa, Akihiro Kawahara, Yuka Kikuchi, Yuichiro Otani, Tomoki Kobayashi, Daisuke Miyamori, Takuya Ikuta, Hiroshi Nakamura, Kenichi Yokobayashi, Shuichi Iwamoto, Keishi Kanno, Hiromasa Ohira, Susumu Tazuma
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Abstract
Familial Mediterranean fever (FMF) is the most common genetic autoinflammatory disease, but it has been considered a rare disease in Japan. We herein describe five patients with FMF who were diagnosed both clinically and genetically at a single Japanese institute. A genetic investigation of Mediterranean fever (MEFV) detected heterozygosity for the compound mutations L110P/E148Q (n=2) and L110P/148Q/P369S/R406Q (n=1), and heterozygosity for M694I (n=1) and S503C (n=1). Colchicine prevented febrile attacks and accompanying symptoms in four patients. One patient with an S503C mutation showed resistance. Physicians should be aware of the characteristic symptoms, as well as the more unusual symptoms such as headache, when diagnosing FMF.
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