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Published online June 30, 2007.
A Case of C1 Esterase Inhibitor Deficiency Presenting as Recurrent Abdominal Pain and Ascites
Byung Hoon Min, Dong Kyung Chang, Young Ho Kim, Poong-Lyul Rhee, Jae J. Kim, Jong Chul Rhee
Department of Medicine, Sungkyunkwan University School of Medicine, Samsung Medical Center, Seoul, Korea
반복적인 복통과 복수로 발현한 C1 에스테라제 억제제 결핍증 1예
민병훈, 장동경, 김영호, 이풍렬, 김재준, 이종철
성균관대학교 의과대학 삼성서울병원 내과학교실
Abstract
C1 esterase inhibitor deficiency is a disorder resulting from a qualitative or functional defect of the C1 esterase inhibitor. It is characterized by recurrent episodes of subcutaneous and submucosal swellings in any part of the skin and the respiratory and gastrointestinal tracts. Gastrointestinal symptoms such as abdominal pain are the dominant symptoms in about 25% of cases and sometimes make this condition misunderstood as surgical emergency, especially when ascites is accompanied. We experienced a case of C1 esterase inhibitor deficiency in a 35-year-old woman presenting with recurrent abdominal pain, ascites, and lower extremities edema. Her symptoms first occurred 8 years ago, and used to spontaneously resolve within 3 days. In laboratory finding, serum C4 and serum C1 esterase inhibitor showed reduced level of 3.2 mg/dL and 5 mg/dL, respectively. After treatment with danazol and tranexamic acid, no more recurrence of symptoms was observed during 2 months of follow-up period. (Intest Res 2007;5:73-76)
Key Words: C1 esterase inhibitor deficiency, Abdominal pain, Ascites
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