Inherited C1 inhibitor deficiency.
The paper reports our experience of a 15-year follow-up of 179 patients with hereditary angioedema (HAE). The disease is transmitted as an autosomal dominant trait and two variants have been described: type I characterized by functional and antigenic C1-inhibitor (C1-INH) deficiency and type II with normal or upper normal C1-INH antigenic levels but no functional activity. The clinical picture is characterized by self-limiting bouts of swelling in the subcutaneous and/or mucous tissues. Data about frequency, localization and possible triggering factors of HAE attacks are reported. Analysis of genomic DNA from our patients using a C1-INH cDNA probe demonstrated the presence of restriction fragment length polymorphisms tightly linked with the disease in a minority of them. Data concerning prophylaxis and treatment of HAE attacks are also shown.
Agostoni
A
A
Clinica Medica V, Ospedale S. Paolo, Università degli Studi di Milano, Italia.
D000799:Angioedema / Q000097:blood* / Q000235:genetics / Q000276:immunology; D003174:Complement C1 Inactivator Proteins / Q000032:analysis / Q000172:deficiency*; D003181:Complement C4 / Q000032:analysis; D006801:Humans
D003174:Complement C1 Inactivator Proteins; D003181:Complement C4