Hereditary angioedema: a study of three families.
Familial angioedema is an autosomal dominant hereditary disease whose pathogenesis is attributed to a C1 inhibitor (C1 INH) deficit. Two genetic forms have been recognized related to the C1 inhibitor deficiency or its dysfunction. Antifibrinolytics as well as androgenic derivatives have proved to be effective in the prevention and treatment of this pathology. In this paper we present the studies carried out in three families affected by C1 inh. deficit and the treatment employed. Some of the members of these families showed symptoms related with this deficit. A satisfactory explanation has not been formulated to justify the reason why only some of the members in our study showed symptomatology, given that there were no differences between the C1 inh. levels in these patients and those who were not affected. The absence of family history connected with this disease does not necessarily suggest that a genetic mutation has been produced. This deficit could have been present in earlier generations but without clinical manifestations. Stanozolol proved effective in the control of symptoms in the two patients to whom this treatment was applied. However, the rise of C1 inh. levels was significative only in one of them. The lack of connection between the clinical improvement and the normalization of the C1 inh. levels led us to think that the main goal of the therapy should not be directed to the normalization of these levels but to keep the patient asymptomatic with the lowest possible doses of the selected medication.
Pola
J
J
Servicio de Alergia, Hospital Ramon y Cajal, Madrid, Spain.
Valdivieso
R
R
Zapata
C
C
Carrillo
T
T
Moneo
I
I
Hinojosa
M
M
Losada
E
E
D000328:Adult; D000799:Angioedema / Q000188:drug therapy / Q000235:genetics* / Q000276:immunology; D002648:Child; D003174:Complement C1 Inactivator Proteins / Q000172:deficiency; D003165:Complement System Proteins / Q000378:metabolism; D005260:Female; D006801:Humans; D008297:Male; D013197:Stanozolol / Q000627:therapeutic use
D003174:Complement C1 Inactivator Proteins; D013197:Stanozolol; D003165:Complement System Proteins