title: Familial Mediterranean fever: the first adult case in Korea.
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.
authors.affiliation: Department of Intenal Medicine, Hallym University College of Medicine, Seoul, Korea.
authors.forename: Ah Leum
authors.initials: AL
authors.lastname: Lim
authors.forename: Hyun Joo
authors.initials: HJ
authors.lastname: Jang
authors.forename: Jung Wan
authors.initials: JW
authors.lastname: Han
authors.forename: Yong Keun
authors.initials: YK
authors.lastname: Song
authors.forename: Won Jun
authors.initials: WJ
authors.lastname: Song
authors.forename: Heung Jung
authors.initials: HJ
authors.lastname: Woo
authors.forename: Young Ok
authors.initials: YO
authors.lastname: Jung
authors.forename: Sea Hyub
authors.initials: SH
authors.lastname: Kae
authors.forename: Jin
authors.initials: J
authors.lastname: Lee
mesh_terms: D015746:Abdominal Pain / Q000209:etiology; D000328:Adult; D003598:Cytoskeletal Proteins / Q000235:genetics* / Q000378:metabolism; D004252:DNA Mutational Analysis; D010505:Familial Mediterranean Fever / Q000175:diagnosis* / Q000235:genetics; D005334:Fever / Q000209:etiology; D006801:Humans; D008297:Male; D020641:Polymorphism, Single Nucleotide; D000071198:Pyrin; D056910:Republic of Korea; D014057:Tomography, X-Ray Computed; D014839:Vomiting / Q000209:etiology
chemical_list: D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; D000071198:Pyrin