J Korean Med Sci.  2012 Nov;27(11):1424-1427. 10.3346/jkms.2012.27.11.1424.

Familial Mediterranean Fever: The First Adult Case in Korea

• Lim AL
• Jang HJ
• Han JW
• Song YK
• Song WJ
• Woo HJ
• Jung YO
• Kae SH
• Lee J

• KMID: 2157957
• DOI: http://doi.org/10.3346/jkms.2012.27.11.1424

Abstract

Familial Mediterranean fever (FMF) is known to be a genetic disorder that prevalent among populations surrounding the Mediterranean Sea. Since Mediterranean fever gene (MEFV) was discovered at 1997, some cases have been reported in countries not related or close to this area like Japan. In addition it has been generally accepted that the clinical onset of FMF begins before 20 yr of age in most patients. Onset of the disease at an older age may occur but is rare. Adult-onset FMF may be a form of disease with distinct clinical, demographic and molecular characteristics. We describe a case of adult-onset FMF confirmed by DNA analysis of the MEFV gene in a Korean patient. A 32-yr-old man, who has no family history of FMF, presented with periodic fever, abdominal pain and vomiting. Though several various tests were thoroughly performed to evaluate the cause of his symptoms, there was no evidence of infectious, autoimmune or neoplastic diseases. Several gene analysis of periodic fever syndrome was finally performed and two point mutations (p.Leu110Pro, p.Glu148Gln) were identified. We confirmed the first adult case of FMF through detection of MEFV gene mutations in Korea and describe his clinical characteristics.

Keyword

Familial Mediterranean Fever; Periodic Fever Syndrome; MEFV Gene

MeSH Terms

Abdominal Pain/etiology
Adult
Cytoskeletal Proteins/*genetics/metabolism
DNA Mutational Analysis
Familial Mediterranean Fever/*diagnosis/genetics
Fever/etiology
Humans
Male
Polymorphism, Single Nucleotide
Republic of Korea
Tomography, X-Ray Computed
Vomiting/etiology
Cytoskeletal Proteins

Figure

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  Fig. 1 Findings of abdominal CT. (A) Left sided small bowel (probably jejunal loop, arrow) wall thickening and multiple enlarged mesenteric lymph nodes. (B) Small amount of pelvic fluid collection.

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  Fig. 2 Results of the DNA analysis of the MEFV gene mutation analysis (c.[329T > C; 442G > C] + [442G > C]).

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