A Case of Recurrent Abdominal Pain with Fever and Urticarial Eruption.
- Author:
Chang Geun LEE
1
;
Yun Jeong LIM
;
Hyoun Woo KANG
;
Jae Hak KIM
;
Jun Kyu LEE
;
Moon Soo KOH
;
Jin Ho LEE
;
Hee Jin HUH
;
Seung Ho LEE
Author Information
- Publication Type:Case Reports
- Keywords: Familial Mediterranean fever; Abdominal pain; Urticaria
- MeSH: Abdominal Pain/*etiology; Adult; Base Sequence; Cytoskeletal Proteins/genetics; Familial Mediterranean Fever/complications/*diagnosis/genetics; Humans; Male; Polymorphism, Single Nucleotide; Recurrence; Sequence Analysis, DNA; Urticaria/*diagnosis
- From:The Korean Journal of Gastroenterology 2014;64(1):40-44
- CountryRepublic of Korea
- Language:English
- 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.
