Iwanami Keiichi, Okano Tsubasa, Ohara Osamu, Morio Tomohiro
Department of Rheumatology, Tokyo Bay Urayasu/Ichikawa Medical Center, Japan.
Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Japan.
Intern Med. 2019 Jan 15;58(2):213-216. doi: 10.2169/internalmedicine.1559-18. Epub 2018 Aug 24.
A diagnosis of hereditary angioedema is usually made with recurrent episodes of swelling of the subcutaneous tissue with a family history. We herein report a case in which recurrent acute abdomen was the main manifestation of hereditary angioedema. A 45-year-old womon presented with a 10-year history of recurrent severe abdominal pain. Abdominal computed tomography revealed remarkable submucosal edema of the ileum. A blood examination revealed grossly reduced complement C4 and CH50 with deficiency of C1-inhibitor. Genetic testing revealed a heterozygous nonsense mutation of the SERPING1 gene, and a diagnosis of hereditary angioedema was made. Hereditary angioedema should be listed as a differential diagnosis of recurrent acute abdomen.
遗传性血管性水肿的诊断通常基于皮下组织反复肿胀发作且有家族史。我们在此报告一例以反复急性腹痛为遗传性血管性水肿主要表现的病例。一名45岁女性有10年反复严重腹痛病史。腹部计算机断层扫描显示回肠黏膜下明显水肿。血液检查显示补体C4和CH50显著降低,C1抑制物缺乏。基因检测显示SERPING1基因杂合无义突变,从而做出遗传性血管性水肿的诊断。遗传性血管性水肿应列为反复急性腹痛的鉴别诊断之一。