title: Familial Mediterranean fever presenting as fever of unknown origin in Korea.
abstract: Familial Mediterranean fever (FMF) is the most common Mendelian autoinflammatory disease, characterized by uncontrolled activation of the innate immune system that manifests as recurrent brief fever and polyserositis (e.g., peritonitis, pleuritic, and arthritis). FMF is caused by autosomal recessive mutations of the Mediterranean fever gene,MEFVwhich encodes the pyrin protein. Although FMF predominantly affects people from Mediterranean and Middle Eastern ethnic origins, 3 cases of FMF have been reported in Korea since 2012. We report another case of FMF in Korea in which the patient presented with a month-long fever without serositis. After treatment with colchicine was initiated, the patient's symptoms quickly subsided. The response to colchicine was helpful for diagnosis. We compare the FMF genotypes in Korea with in other countries. Studying FMF cases in Korea will help establish the bestMEFVexons to use for screening and diagnosis of Korean FMF.
authors.affiliation: Department of Pediatrics, Korea University Medical Center, Seoul, Korea.
authors.forename: Jun Hee
authors.initials: JH
authors.lastname: Lee
authors.affiliation: Department of Pediatrics, Korea University Medical Center, Seoul, Korea.
authors.forename: Jong Hyun
authors.initials: JH
authors.lastname: Kim
authors.affiliation: Department of Pediatrics, Korea University Medical Center, Seoul, Korea.
authors.forename: Jung Ok
authors.initials: JO
authors.lastname: Shim
authors.affiliation: Department of Pediatrics, Korea University Medical Center, Seoul, Korea.
authors.forename: Kwang Chul
authors.initials: KC
authors.lastname: Lee
authors.affiliation: Department of Pediatrics, Korea University Medical Center, Seoul, Korea.
authors.forename: Joo Won
authors.initials: JW
authors.lastname: Lee
authors.affiliation: Department of Pediatrics, Korea University Medical Center, Seoul, Korea.
authors.forename: Jung Hwa
authors.initials: JH
authors.lastname: Lee
authors.affiliation: Medical Genetics Branch, National Human Genome Research Institute (NHGRI), Bethesda, MD, USA.
authors.forename: Jae Jin
authors.initials: JJ
authors.lastname: Chae
keywords: Colchicine; Familial Mediterranean fever; Fever of unknown origin; Korea