Hereditary angioedema type II--a study of two families.
Hereditary angioedema (HA) is caused by a quantitative or qualitative deficiency of C1 esterase inhibitor (C1 INH). We present a study of nine patients with HA belonging to two different families. The symptoms started before 10 years of age in most cases (78%). Facial edema (lips, eyes) and of the extremities (feet, hands) were the most frequent complaints. Three patients presented edema of the glottis and one of them underwent a tracheostomy twice. Laboratory tests, outside the acute crisis, revealed low levels of C4 in all patients. The serum levels of C1 INH were normal in seven patients; however, functional activity was not observed in any of them. After the use of a modified androgen (danazol), control of symptoms was observed in all patients, although functional activity was re-established in only five patients.
Solé
D
D
Department of Pediatrics, Escola Paulista de Medicina, São Paulo, Brazil.
Leser
P G
PG
Naspitz
C K
CK
D000293:Adolescent; D000328:Adult; D000799:Angioedema / Q000145:classification / Q000235:genetics* / Q000276:immunology; D002648:Child; D003174:Complement C1 Inactivator Proteins / Q000172:deficiency; D003181:Complement C4 / Q000172:deficiency; D003613:Danazol / Q000627:therapeutic use; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree
D003174:Complement C1 Inactivator Proteins; D003181:Complement C4; D003613:Danazol