Clinical Relevance of <i>MEFV</i> Gene Mutations in Japanese Patients with Unexplained Fever

Migita, Kiyoshi; Ida, Hiroaki; Moriuchi, Hiroyuki; Agematsu, Kazunaga

doi:10.3899/jrheum.110700

Cited by 29 publications

(19 citation statements)

References 8 publications

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“…Therefore, in the current case, it is possible that the arthropathy appeared to be FMF-related joint involvement, rather than rheumatoid synovitis. It is also plausible that a modifier role of MEFV gene mutations could be partly responsible for the colchicine-responsive arthritis seen in the present case, since colchicine-responsive connective tissue diseases with MEFV mutations had been reported [28,29]. Further study is warranted to elucidate the role of MEFV mutations in the clinical phenotype of RA.…”

Section: Discussionmentioning

confidence: 63%

Coexistence of familial Mediterranean fever and rheumatoid arthritis

Migita

Abiru

Sasaki

et al. 2013

Modern Rheumatology

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Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent febrile polyserositis and arthritis. Although accompanying seronegative spondyloarthropathy has been reported in FMF, coexistence with rheumatoid arthritis (RA) is very rare. This case report describes a Japanese female RA patient who presented with periodic fever. Genetic analysis revealed compound heterozygous mutations in exon 2 and 3 of the MEFV gene (E148Q/G304R/P369S/R408Q). The patient was successfully treated with colchicine with 3-year follow-up.

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Section: Discussionmentioning

confidence: 63%

Coexistence of familial Mediterranean fever and rheumatoid arthritis

Migita

Abiru

Sasaki

et al. 2013

Modern Rheumatology

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“…While M694V and V726A are the most common mutations in Mediterranean FMF patients (16), they are infrequent in Japanese FMF patients (17,18). The E148Q, P369S and R408Q mutations, which were detected in the present patient, have been reported in patients with atypical FMF in Japan (19). Importantly, the MEFV mutations of PFMS have not been studied in Japanese subjects, and such mutations may differ between Mediterranean and Japanese individuals.…”

Section: Discussionmentioning

confidence: 66%

Protracted Febrile Myalgia Syndrome in a Japanese Patient with Fasciitis Detected on MRI

et al. 2014

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Protracted febrile myalgia syndrome (PFMS) is a rare manifestation of familial Mediterranean fever characterized by prolonged severe myalgia. We herein describe a case of PFMS with fasciitis on magnetic resonance imaging. The response to corticosteroid therapy was prompt, as is typical for PFMS. An MEFV gene analysis revealed the patient to be homozygous for E148Q and compound heterozygous for P369S-R408Q. This is the first case report of a Japanese patient with PFMS. MRI findings may help to diagnose such cases.

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“…In addition, the present patient had mutations of E84K and G304R. Meanwhile, 12 FMF patients with the E84K heterozygous mutation and four with G304 heterozygous mutation in Japan have been reported, without accompanying symptoms of pericarditis (15). To date, no specific mutations related to the onset of recurrent pericarditis in FMF patients have been found.…”

Section: Discussionmentioning

confidence: 88%

Acute Pericarditis as the First Manifestation of Familial Mediterranean Fever: A Possible Relationship with Idiopathic Recurrent Pericarditis

et al. 2014

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A 56-year-old man was admitted to our hospital due to periodic episodes of acute pericarditis. These episodes occurred monthly along with a high fever and elevation of the C-reactive protein (CRP) level. The patient became afebrile and his CRP level decreased following the administration of a non-steroidal antiinflammatory drug. A mutation analysis revealed the heterozygote of the familial Mediterranean fever (FMF) gene (E84K, G304R). This finding confirmed our diagnosis, and we treated the patient with colchicine. He responded to treatment and has been visiting our hospital without disease recurrence. FMF should be included in the differential diagnosis of repeated episodes of pericarditis.

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Clinical Relevance of MEFV Gene Mutations in Japanese Patients with Unexplained Fever

Cited by 29 publications

References 8 publications

Coexistence of familial Mediterranean fever and rheumatoid arthritis

Coexistence of familial Mediterranean fever and rheumatoid arthritis

Protracted Febrile Myalgia Syndrome in a Japanese Patient with Fasciitis Detected on MRI

Acute Pericarditis as the First Manifestation of Familial Mediterranean Fever: A Possible Relationship with Idiopathic Recurrent Pericarditis

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