A case of hereditary angioedema defined by gene analysis

Abstract

Hereditary angioedema (HAK) is a disease that is characterized by localized edema thai can occur anywhere in die body, and is caused by a imitation of the CUnhibitor gene. In the oto-rhino-laryngological region, it occurs in the mouth, pharynx, larynx, and on the face. Occasionally, laryngopharyngeal edema can in particular sometimes be fatal. We report herein on a case of a 59-year-old female who was admitted to our hospital for further evaluation and treatment of laryngopharyngeal edema. She had a history of subcutaneous edema during pregnancy and ascites of unknown origin without a definitive diagnosis, On admission, there were low CI inhibitor and complement CI levels, and normal Clq levels. As the patient had no family history of HAK, we performed gene analysis, which revealed mutation of the C Hnhibitor gene in Exon7. In cases of HAK without family history, gene analysis is required for accurate diagnosis.