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)

• Keywords: C1 esterase inhibitor deficiency; Abdominal pain; Ascites