Elderly-onset familial Mediterranean Fever Carrying MEFV Exon 10 Variants in a Japanese Patient: A Case Report

被引：0

作者：

Fujita, Yuya ^{[1
]}

Ogawa, Shotaro ^{[1
]}

Sumichika, Yuya ^{[1
]}

Saito, Kenji ^{[1
]}

Yoshida, Shuhei ^{[1
]}

Matsumoto, Haruki ^{[1
]}

Asano, Tomoyuki ^{[1
]}

Sato, Shuzo ^{[1
]}

Yanagida, Mai ^{[1
]}

Naito, Shotaro ^{[2
]}

Migita, Kiyoshi ^{[1
,3
]}

机构：

[1] Fukushima Med Univ, Sch Med, Dept Rheumatol, Fukushima, Japan

[2] Fukushima Med Univ, Dept Gen Internal Med, Fukushima, Japan

[3] St Francis Hosp, Dept Rheumatol, Nagasaki, Japan

来源：

INTERNAL MEDICINE | 2024年 / 64卷 / 10期

关键词：

autoinflammatory disease; familial Mediterranean fever; Fever of unknown origin; DIAGNOSIS; CRITERIA;

D O I：

10.2169/internalmedicine.4463-24

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：1595 / 1598

页数：4

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