title: A case of recurrent abdominal pain with fever and urticarial eruption.
abstract: Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by recurrent episodes of fever and serosal, synovial, or cutaneous inflammation, caused by a dysfunction of pyrin as a result of mutation within the MEFV gene. It occurs mainly among Mediterranean and Middle Eastern populations, including Jews, Arabs, and Turks. However, FMF cases have been reported outside the Mediterranean and Middle Eastern countries in recent years. Although FMF has been relatively rare in Korea until now, proper recognition of FMF might lead to more frequent diagnoses of FMF. We experienced an interesting case, a 31-year-old Korean man who presented with recurrent abdominal pain with fever and urticarial eruption for 10 years. DNA analysis showed complex mutations (p.Leu110Pro, p.Glu148Gln) in the MEFV gene. To date, three cases have been reported, and this case of FMF with skin conditions is the first case in Korea.
authors: Department of Internal Medicine, Dongguk University Ilsan Hospital, 27 Donggung-ro, Ilsandong-gu, Goyang 410-773, Korea.
authors: Chang Geun
authors: CG
authors: Lee
authors: Yun Jeong
authors: YJ
authors: Lim
authors: Hyoun Woo
authors: HW
authors: Kang
authors: Jae Hak
authors: JH
authors: Kim
authors: Jun Kyu
authors: JK
authors: Lee
authors: Moon Soo
authors: MS
authors: Koh
authors: Jin Ho
authors: JH
authors: Lee
authors: Hee Jin
authors: HJ
authors: Huh
authors: Seung Ho
authors: SH
authors: Lee
mesh_terms: D015746:Abdominal Pain / Q000209:etiology*; D000328:Adult; D001483:Base Sequence; D003598:Cytoskeletal Proteins / Q000235:genetics; D010505:Familial Mediterranean Fever / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008297:Male; D020641:Polymorphism, Single Nucleotide; D000071198:Pyrin; D012008:Recurrence; D017422:Sequence Analysis, DNA; D014581:Urticaria / Q000175:diagnosis*
chemical_list: D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; D000071198:Pyrin