KjG The Korean Journal of Gastroenterology Korean J Gastroenterol 1598-9992 2233-6869 Korean Society of Gastroenterology 10.4166/kjg.2014.64.1.40 kjg-64-40 Case Report A Case of Recurrent Abdominal Pain with Fever and Urticarial Eruption LeeChang Geun LimYun Jeong KangHyoun Woo KimJae Hak LeeJun Kyu KohMoon-Soo LeeJin Ho HuhHee Jin 1 LeeSeung Ho 2 Department of Internal Medicine, Dongguk University Ilsan Hospital, Goyang, Korea Department of Laboratory Medicine, Dongguk University Ilsan Hospital, Goyang, Korea Department of Dermatology, Dongguk University Ilsan Hospital, Goyang, Korea Correspondence to: Yun Jeong Lim, Department of Internal Medicine, Dongguk University Ilsan Hospital, 27 Donggung-ro, Ilsandong-gu, Goyang 410-773, Korea. Tel: +82-31-961-7133, Fax: +82-31-961-9339, E-mail: limyj@dongguk.ac.kr 10 2014 04 10 2014 641 40 44 14112013 20012014 30012014 Copyright © 2014 Korean Ophthalmological Society 2014 This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. 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.

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Urticarial eruption. Numerous small wheal-like lesions are found on the anterior trunk (A) and hand (B).

Results of DNA analysis of the MEFV gene. DNA sequencing shows (A) the p.Leu110Pro mutation (arrow) and (B) p.Glu148Gln mutation (arrow).

Four Cases of Familial Mediterranean Fever (FMF) in Korea

Author Gender Onset age (yr) Symptoms Gene mutation Complication Family history of FMF
Joo, et al.9 Male 2 Fever, arthralgia p.Glu148Gln Extensive thrombosis None
        p.Pro369Ser    
        p.Arg408Gln    
Lim, et al.10 Male 29 Fever, vomiting abdominal pain p.Glu148Gln None None
        p.Leu110Pro    
Koo, et al.11 Male 7 Fever, edema, scrotal swelling p.Pro369Ser Renal amyloidosis None
        p.Arg408Gln    
Current case Male 21 Fever, urticaria abdominal pain p.Glu148Gln None None
        p.Leu110Pro