A Case of C1 Inhibitor Deficiency Syndrome

Kim, Wee Hwang; Pahn, Young Soo; Kim, Nam Gol; Oh, Ki Joon

Abstract

C1 inhibitor (C1 INH) deficiency is characterized by recurrent attacks of angioedema. The disorder may be inherited or acquired, with both types presenting a similar phenotypic picture. The angioedema most frequently affects the extremities, gastrointestinal, genital, facial and, airway swelling. The laryngeal angioedema can compromise the integrity of the upper airway, so its early diagonsis is crucial. Acquired angioedema by C1 deficiency is a rare disorder characterized by adult onset and lack of inheritance of the disease. We experienced a case of angioedema in a 37-year old man. He had no family history of angioedema and laboratory data showed depressed C1 inhibitor levels. With a review of literature, authors report a case of acquired angioedema by C1 inhibitor deficiency who had a history of the recurrent swelling of tongue, lip and, oral buccal mucosa.