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Elderly-onset Familial Mediterranean Fever Carrying MEFV Exon 10 Variants in a Japanese Patient

Year: 2024

Type: article

Abstract: 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.

Source: Internal Medicine

DOI: 10.2169/internalmedicine.4463-24

Authors: Yuya Fujita, Shotaro Ogawa, Yuya Sumichika, Kenji Saito, Shuhei Yoshida, Haruki Matsumoto, Tomoyuki Asano, Shuzo Sato, Mai Yanagida, Shotaro Naito, Kiyoshi Migita

Institutions: Fukushima Medical University, St. Francis Hospital

Language: English

Topic: Inflammasome and immune disorders

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W4403715566

FWCI: 0.116

Cites: 28

Cited by: 1

Related to: 10