ArticleInternal medicine (Tokyo, Japan)2019
Coexistence of Mixed Connective Tissue Disease and Familial Mediterranean Fever in a Japanese Patient.
Article in Internal medicine (Tokyo, Japan), 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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3 citing papers in PubMed, 5 citations in OpenAlex.
- Case Report: Gitelman syndrome with a suspected MEFV- associated autoinflammatory phenotype: diagnostic challenges in a complex case.Frontiers in immunology · 2026Article
- Co-occurrence of autoimmune diseases and metabolic disorders in familial mediterranean fever patients: review of literature and case reports.Frontiers in immunology · 2025Review
- Familial Mediterranean fever phenotype progression into anti-cyclic citrullinated peptide antibody-positive rheumatoid arthritis:a case report.Fukushima journal of medical science · 2020Article
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Authors and funding
13 authors at 2 institutions in 1 country.
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Abstract
We herein report a Japanese patient with familial Mediterranean fever (FMF) who developed the clinical manifestations of mixed connective tissue disease (MCTD) and Sjögren's syndrome. The patient was a 36-year-old woman presenting with a periodic short-duration (2-3 days) fever and pleural pain. An Mediterranean fever (MEFV) gene analysis detected a complex allele mutation (P369S/R408Q) in exon 3 of the MEFV gene. Serological and clinical data showed the coexistence of MCTD and Sjögren's syndrome. Treatment with colchicine (1.0 mg/day) successfully eliminated febrile attack and pleuritis, leading to the diagnosis of FMF. Four months after the initiation of colchicine treatment, she presented with MCTD-related pulmonary artery hypertension. This is the first report of FMF coexisting with MCTD.
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