Colchicine-responsive chronic recurrent multifocal osteomyelitis associated with familial Mediterranean fever in the presence of MEFV mutation: A case report

A 38-year-old female was referred with a history of fever, polyarthralgia, and bone pain. She was diagnosed with chronic recurrent multifocal osteomyelitis based on imaging and biopsy findings. Non-steroidal anti-inflammatory drugs and bisphosphonate caused no improvement. Then, she developed recurr...

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Bibliographic Details
Published in:Modern rheumatology case reports 2023-12, Vol.8 (1), p.195-198
Main Authors: Izumikawa, Miharu, Kato, Mikiya, Wakiya, Risa, Kameda, Tomohiro, Nakashima, Shusaku, Shimada, Hiromi, Miyagi, Taichi, Sugihara, Koichi, Ushio, Yusuke, Mino, Rina, Mizusaki, Mao, Chujo, Kanako, Hiraishi, Takashi, Kadowaki, Norimitsu, Dobashi, Hiroaki
Format: Article
Language:English
Subjects:
Abdominal Pain
Adult
Colchicine - therapeutic use
Familial Mediterranean Fever - complications
Familial Mediterranean Fever - diagnosis
Familial Mediterranean Fever - drug therapy
Female
Humans
Mutation
Pyrin - genetics
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Summary:A 38-year-old female was referred with a history of fever, polyarthralgia, and bone pain. She was diagnosed with chronic recurrent multifocal osteomyelitis based on imaging and biopsy findings. Non-steroidal anti-inflammatory drugs and bisphosphonate caused no improvement. Then, she developed recurrent diarrhoea and abdominal pain. Genetic testing revealed MEFV mutation. Based on the symptoms and genetic mutation results that emerged during the course of these events, she was diagnosed with familial Mediterranean fever. All symptoms, including bone pain, improved with daily colchicine administration. This case was considered familial Mediterranean fever complicated with a clinical diagnosis of chronic recurrent multifocal osteomyelitis, which is included in the spectrum of pyrine autoinflammatory diseases. Considering this case, patients with chronic recurrent multifocal osteomyelitis with MEFV gene variants may respond to colchicine.
ISSN:2472-5625
2472-5625
DOI:10.1093/mrcr/rxad027