Five Cases of Familial Mediterranean Fever in Japan: The Relationship with &lt;i&gt;MEFV&lt;/i&gt; Mutations

Kimura, Kazuki; Mizooka, Masafumi; Migita, Kiyoshi; Ishida, Ryoko; 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

doi:10.2169/internalmedicine.0057-17

Cited by 7 publications

(7 citation statements)

References 18 publications

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“…The most common neurological manifestations in FMF are headache and myalgia. Aseptic meningitis [32] also has been described in Japanese patients with FMF. Myalgia particularly affects the legs, and protracted febrile myalgia is considered to be one of the muscular manifestations of FMF [33].…”

Section: Clinical Manifestations Of Japanese Fmf Patientsmentioning

confidence: 94%

Familial Mediterranean fever: overview of pathogenesis, clinical features and management

Migita

Asano

Sato

et al. 2018

Immunological Medicine

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Familial Mediterranean fever (FMF) is the most common monogenic autoinflammatory disease, and is characterized by recurrent attacks of fever and polyserositis. It is associated with mutations in the MEFV gene encoding pyrin, which result in inflammasome activation and the uncontrolled production of IL-1b. FMF mainly affects individuals originating from the Mediterranean basin; however, a Japanese nationwide survey demonstrated that FMF is not uncommon in Japan. The survey also indicated that Japanese FMF patients are clinically or genetically distinct from Mediterranean FMF patients, suggesting a genotype-phenotype correlation. In Japanese patients with FMF, MEFV exon 10 mutations are associated with the more typical FMF phenotype. Conversely, Japanese FMF patients with mutations in MEFV exons 2 or 3 present with an atypical FMF phenotype. Colchicine is the mainstay of FMF treatment, and its regular use prevents febrile attacks and decreases the long-term risk of AA amyloidosis. However, a minority of FMF patients are colchicine-resistant, and anti-IL-1 treatment has proven beneficial in suppressing inflammation in these patients. Although Japanese FMF patients may develop less severe disease compared with Mediterranean FMF patients, they should nevertheless be treated early to prevent recurrent attacks and the subsequent development of AA amyloidosis.

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Section: Clinical Manifestations Of Japanese Fmf Patientsmentioning

confidence: 94%

Familial Mediterranean fever: overview of pathogenesis, clinical features and management

Migita

Asano

Sato

et al. 2018

Immunological Medicine

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“…Capton et al proposed diagnostic criteria for recurrent meningitis related to FMF, as follows: (a) Episodes of RAM due to FMF should be accompanied by other clinical or biological features of FMF attacks; (b) colchicine should prevent or lessen episodes; and (c) other classical causes of RAM should be excluded (9). In a systematic review investigating the association between FMF and RAM, there were only five confirmed cases of FMF and RAM (including the present case), although the differential diagnosis mentioned above was incomplete in three cases (10)(11)(12)(13) (Table). In previous case reports, the authors failed to sufficiently exclude or describe the exclusion of other diseases (11,13).…”

Section: Discussionmentioning

confidence: 79%

Familial Mediterranean Fever Is Important in the Differential Diagnosis of Recurrent Aseptic Meningitis in Japan

et al. 2020

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Familial Mediterranean fever (FMF) is an autoinflammatory disease characterized by a recurrent fever and multiple serositis. In the present report, we discuss the case of a 42-year-old man diagnosed with FMF accompanied by recurrent aseptic meningitis (RAM). The patient experienced RAM at intervals of several years without any serositis or synovitis. We detected Mediterranean fever (MEFV) gene mutations (E148Q homozygotes) and diagnosed FMF in perfect accordance with clinical diagnostic criteria. FMF, in which RAM is a major symptom, has also been described in previous reports. Therefore, FMF should be considered in the differential diagnosis of causative diseases for RAM.

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“…However, in Japan, there are more patients with FMF, carrying heterozygous mutations in the MEFV gene than those carrying homozygous mutations [3]. In addition, in a limited number of cases with a heterozygous MEFV p.Ser503Cys exon 5 variant, the patients have been phenotypically diagnosed with atypical FMF (Table 2) [9][10][11]. It remains perplexing why patients with heterozygous MEFV p.Ser503Cys exon 5 variant present atypical FMF manifestations.…”

Section: Discussionmentioning

confidence: 99%

Atypical Familial Mediterranean Fever in a Japanese Boy with Heterozygous MEFV p.Ser503Cys Exon 5 Variant

Satô

Takezaki

Goto

et al. 2021

Case Reports in Pediatrics

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Periodic fever syndromes are heterogeneous diseases. Familial Mediterranean fever (FMF) is one of the hereditary periodic fever diseases caused by a Mediterranean fever (MEFV) gene abnormality. FMF can be categorized as typical or atypical, based on clinical findings and genetic screening. Atypical FMF has a wide variation of clinical findings and disease-causing mutations of MEFV. Therefore, it is sometimes difficult to diagnose an unknown fever as FMF. To date, a large number of various typical and atypical FMF cases have been reported in Japan. Here, we describe a Japanese boy with heterozygous MEFV p.Ser503Cys exon 5 variant who developed periodic fever. He was treated with colchicine; a complete eradication of his fever and various accompanying symptoms have been subsequently achieved for more than a year. Given that there have been a few reports about patients with this variant, little is known about the genetic and phenotypic role of heterozygous MEFV p.Ser503Cys exon 5 variant. It is therefore imperative to consider atypical FMF as a differential diagnosis when a periodic fever is encountered. Furthermore, we suggest that it is worthwhile to integrate MEFV gene analysis with the potential effects of colchicine treatment in patients with periodic fever.

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Five Cases of Familial Mediterranean Fever in Japan: The Relationship with <i>MEFV</i> Mutations

Cited by 7 publications

References 18 publications

Familial Mediterranean fever: overview of pathogenesis, clinical features and management

Familial Mediterranean fever: overview of pathogenesis, clinical features and management

Familial Mediterranean Fever Is Important in the Differential Diagnosis of Recurrent Aseptic Meningitis in Japan

Atypical Familial Mediterranean Fever in a Japanese Boy with Heterozygous MEFV p.Ser503Cys Exon 5 Variant

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