Five Cases of Familial Mediterranean Fever in Japan: The Relationship with MEFV Mutations

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 Mediterr...

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Detalles Bibliográficos
Autores principales: Kimura, Kazuki, Mizooka, Masafumi, Migita, Kiyoshi, Ishida, Ryoko, Matsumoto, Masatoshi, Yamasaki, Satoshi, Kishikawa, Nobusuke, Kawahara, Akihiro, Kikuchi, Yuka, Otani, Yuichiro, Kobayashi, Tomoki, Miyamori, Daisuke, Ikuta, Takuya, Nakamura, Hiroshi, Yokobayashi, Kenichi, Iwamoto, Shuichi, Kanno, Keishi, Ohira, Hiromasa, Tazuma, Susumu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society of Internal Medicine 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6148168/
https://www.ncbi.nlm.nih.gov/pubmed/29526930
http://dx.doi.org/10.2169/internalmedicine.0057-17
Descripción
Sumario: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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