A Case of Recurrent Abdominal Pain with Fever and Urticarial Eruption

Chang Geun Lee; Yun Jeong Lim; Hyoun Woo Kang; Jae Hak Kim; Jun Kyu Lee; Moon-Soo Koh; Jin Ho Lee; Hee Jin Huh; Seung Ho Lee

doi:10.4166/kjg.2014.64.1.40

Journal List > Korean J Gastroenterol > v.64(1) > 1007320

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Lee, Lim, Kang, Kim, Lee, Koh, Lee, Huh, and Lee: A Case of Recurrent Abdominal Pain with Fever and Urticarial Eruption

Case Report

Korean J Gastroenterol 2014;64(1):40-44.

Published online: 4 October 2014

DOI: https://doi.org/10.4166/kjg.2014.64.1.40

A Case of Recurrent Abdominal Pain with Fever and Urticarial Eruption

Chang Geun Lee, Yun Jeong Lim, Hyoun Woo Kang, Jae Hak Kim, Jun Kyu Lee, Moon-Soo Koh, Jin Ho Lee, Hee Jin Huh¹, Seung Ho Lee²

Department of Internal Medicine, Dongguk University Ilsan Hospital, Goyang, Korea

¹Department of Laboratory Medicine, Dongguk University Ilsan Hospital, Goyang, Korea

²Department 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

Received 14 November 201320 January 2014 Accepted 30 January 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.

Keywords: Familial Mediterranean fever, Abdominal pain, Urticaria

References

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Fig. 1.

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

Fig. 2.

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

Table 1.

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

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