Observational studyArthritis research & therapy2016
Familial Mediterranean fever is no longer a rare disease in Japan.
Observational study in Arthritis research & therapy, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers.
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Who cites it
41 citing papers in PubMed, 83 citations in OpenAlex.
- Musculoskeletal manifestations occur predominantly in patients with later-onset familial Mediterranean fever: Data from a multicenter, prospective national cohort study in Japan.Arthritis research & therapy · 2018Trial
- Familial Mediterranean Fever Presenting with Recurrent Abdominal Pain without Periodic Fever Following COVID-19.Internal medicine (Tokyo, Japan) · 2026Article
- Anti-citrullinated Protein Antibody-positive Arthralgia Associated with an L110P-E148Q Double Heterozygote: A Case-based Review.Internal medicine (Tokyo, Japan) · 2026Review
- Familial Mediterranean Fever With Compound Heterozygosity for the Pyrin Variant L110P-E148Q: A Case Report.Cureus · 2025Article
- Identification of pathogenicJournal of rheumatic diseases · 2025Article
- A treatment algorithm for familial Mediterranean fever patients with menstruation-associated attacks.Rheumatology (Oxford, England) · 2025Article
- Familial Mediterranean Fever in Childhood.Turkish archives of pediatrics · 2024Review
- Article
- Genewise detection of variants inFrontiers in genetics · 2024Article
- Two Cases of Familial Mediterranean Fever Involving MEFV Variants: The Importance of Differentiating the Diagnosis from COVID-19.Internal medicine (Tokyo, Japan) · 2023Article
- IgA Vasculitis in Japanese Patients Harboring MEFV Mutations: A Case Report and Review of the Literature.Cureus · 2023Article
- Mapping of global research on familial Mediterranean fever: a SCI-Expanded-based bibliometric analysis.Rheumatology international · 2022Article
- Familial Mediterranean Fever and Diet: A Narrative Review of the Scientific Literature.Nutrients · 2022Review
- A patient with familial Mediterranean fever mimicking diarrhea-dominant irritable bowel syndrome who successfully responded to treatment with colchicine: a case report.Journal of medical case reports · 2022Article
- The Preferential Use of Anakinra in Various Settings of FMF: A Review Applied to an Updated Treatment-Related Perspective of the Disease.International journal of molecular sciences · 2022Review
- Vaccination for Patients with Inborn Errors of Immunity: a Nationwide Survey in Japan.Journal of clinical immunology · 2022Article
- Mediterranean fever gene-associated enterocolitis in an elderly Japanese woman.Clinical journal of gastroenterology · 2021Article
- Rapid Flow Cytometry-Based Assay for the Functional Classification of MEFV Variants.Journal of clinical immunology · 2021Article
- Comorbidities and phenotype-genotype correlation in children with familial Mediterranean fever.Rheumatology international · 2021Observational
- Creating Awareness for Primary Immunodeficiencies in Japan.Frontiers in immunology · 2021Review
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Authors and funding
21 authors at 10 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe aim of this study was to evaluate the clinical manifestations and prevalence of familial Mediterranean fever (FMF) in Japanese patients with unexplained fever and rheumatic manifestations.
methodsWe enrolled 601 patients with unexplained fever or suspected FMF throughout Japan between 2009 and 2015. Patients were divided into three groups according to Tel Hashomer criteria: sure FMF, probable FMF, and non-FMF patients, including definitive rheumatic diseases. Mutation detection in exons 1, 2, 3, and 10 of the FMF gene MEFV was performed by direct sequencing.
resultsA total of 192 patients (31.9 %) were diagnosed with FMF according to FMF diagnostic criteria. These could be divided into sure FMF (56.3 %, n = 108) and probable FMF (43.7 %, n = 84) patients. Fever, abdominal symptoms, and thoracic symptoms were significantly more common in FMF than non-FMF patients. Among FMF patients, 26 (13.5 %) had concomitant rheumatic diseases. Most FMF patients (94.3 %, 181/192) carried at least one MEFV mutation. Allele frequencies of M694I (13.5 % vs 0 %) and E148Q (39.1 % vs 24.8 %) mutations were significantly higher in FMF compared with healthy subjects. Allele frequencies of common MEFV mutations in FMF patients were M694I (13.5 %), P369S (8.6 %), R408Q (8.1 %), G304R (2.9 %), R202Q (4.4 %), E148Q (39.1 %), L110P (11.7 %), and E84K (3.1 %). Patients with a sure FMF phenotype had a higher frequency of MEFV exon 10 mutation (M694I) and a lower frequency of MEFV exon 3 mutations (P369S, R408Q) compared with those with a probable FMF phenotype.
conclusionThe high prevalence of FMF in Japanese patients with unexplained fever was confirmed in the present study. FMF should be suspected in cases of unexplained fever or non-specific rheumatic manifestations, and mutational analysis of MEFV could be useful to predict the clinical phenotypes of FMF in Japan.
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