Abstract
In October of 2011, a 30-year-old Japanese man was referred to Niigata Prefectural Shibata Hospital with severe facial swelling. Relevant history included some transient episodes of hand swelling since the age of 20 years; his mother and two brothers had also experienced similar episodes. In addition, in August of 2011 he had been admitted to our hospital for abdominal pain that was shown by computed tomography to be caused by edema of the small intestine although it had not been diagnosed. An infusion of corticosteroids and a H1 histamine receptor blocker had little effect on the facial swelling. Laboratory testing showed a low concentration of complement component 4, and low activity and amount of C1 inhibitor. A novel heterogeneous missense mutation was discovered on exon 3 of the C1 inhibitor gene by the Center of Research, Education and Treatment of Angioedema. The present case was definitively diagnosed with hereditary angioedema (HAE) type 1. The center will be useful because it provides genetic analysis for diagnosis of HAE and current knowledge about the disease.
