MEFV gene polymorphisms and TNFRSF1A mutation in patients with inflammatory myopathy with abundant macrophages |
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| Authors: | K Fujikawa K Migita Y Shigemitsu M Umeda F Nonaka M Tamai H Nakamura A Mizokami T Tsukada T Origuchi N Yonemitsu M Yasunami A Kawakami K Eguchi |
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| Institution: | 1. Department of Rheumatology, Japan Community Health Care Organization, Isahaya General Hospital, , Isahaya, Japan;2. Department of Rheumatology, NHO National Nagasaki Medical Center, , Omura, Japan;3. Department of Rheumatology, Sasebo Chuo Hospital, , Sasebo, Japan;4. Department of Internal Medicine, Sasebo Municipal Hospital, , Sasebo, Japan;5. Department of Immunology and Rheumatology, Unit of Translational Medicine, Graduate School of Biomedical Sciences, Nagasaki University, , Nagasaki, Japan;6. Department of Internal Medicine, Nagasaki Municipal Hospital, , Nagasaki, Japan;7. Department of Pathology, Sasebo Chuo Hospital, , Sasebo, Japan;8. Department of Immunogenetics, Institute of Tropical Medicine, Nagasaki University, , Nagasaki, Japan |
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| Abstract: | Inflammatory myopathy with abundant macrophages (IMAM) has recently been proposed as a new clinical condition. Although IMAM shares certain similarities with other inflammatory myopathies, the mechanisms responsible for this condition remain unknown. Patients with familial Mediterranean fever (FMF) and tumour necrosis factor receptor-associated periodic syndrome (TRAPS) also often develop myalgia. We therefore investigated the polymorphisms or mutations of MEFV and TNFRSF1A genes in patients with IMAM to identify their potential role in this condition. We analysed the clinical features of nine patients with IMAM and sequenced exons of the MEFV and TNFRSF1A genes. The patients with IMAM had clinical symptoms such as myalgia, muscle weakness, erythema, fever and arthralgia. Although none of the patients were diagnosed with FMF or TRAPS, seven demonstrated MEFV polymorphisms (G304R, R202R, E148Q, E148Q-L110P and P369S-R408Q), and one demonstrated a TNFRSF1A mutation (C43R). These results suggest that MEFV gene polymorphisms and TNFRSF1A mutation are susceptibility and modifier genes in IMAM. |
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| Keywords: | autoinflammatory syndrome IMAM MEFV TNFRSF1A |
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