Elderly-onset Familial Mediterranean Fever Carrying <i>MEFV</i> Exon 10 Variants in a Japanese Patient
Familial Mediterranean fever (FMF) is the most prevalent hereditary autoinflammatory disease and is caused by the MEFV gene. In patients carrying MEFV exon 10 variants, FMF usually develops at an early age. A 76-year-old Japanese man presented with a periodic fever lasting 2-3 days, chest pain, and abdominal pain. An MEFV gene analysis revealed compoundheterozygous M694I/E148Q/L110P. Colchicine treatment (0.5 mg/day) improved the patient's symptoms. This is the first case report of an elderly Japanese patient with FMF onset in the 70s carrying the MEFV exon 10 variant.
Authors
- Shuzo Sato (ORCID: https://orcid.org/0000-0002-8110-8261)
- Yuya Fujita (ORCID: https://orcid.org/0000-0003-4163-9356)
- Shotaro Naito (ORCID: https://orcid.org/0000-0001-9774-1638)
- Kenji Saito
- Yuya Sumichika
- Shotaro Ogawa
- Kiyoshi Migita (ORCID: https://orcid.org/0000-0003-1339-5622)
- Shuhei Yoshida (ORCID: https://orcid.org/0000-0001-5123-3136)
- Haruki Matsumoto (ORCID: https://orcid.org/0000-0003-0589-1634)
- Tomoyuki Asano
- M. Yanagida
Institutions
- Fukushima Medical University (JP)
- St. Francis Hospital (US)
- St. Francis Hospital (US)
Publication Details
- Journal
- Internal Medicine
- Published
- 2024-10-24
- DOI
- https://doi.org/10.2169/internalmedicine.4463-24
- Citations
- 1
- Primary Topic
- Inflammasome and immune disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.23