RESUMO
Since the detection of the first patient with hereditary angioedema (HA) in 1978, 88 new patients belonging to 16 families have been referred to our clinic. Eighty patients had Type I disease, 5 Type II, and 3 Type III (secondary). We describe the clinical onset, frequent complications, diagnostic tests of the complement system, and abnormalities of the coagulation pathway linked to complement activation. Particular attention was paid to family members who could present succedaneum symptoms. The results of danazole and other therapies and protective and preventive treatment for surgery also are discussed.
Assuntos
Angioedema , Adolescente , Adulto , Angioedema/diagnóstico , Angioedema/tratamento farmacológico , Angioedema/genética , Argentina , Coagulação Sanguínea , Criança , Pré-Escolar , Mapeamento Cromossômico , Cromossomos Humanos Par 11 , Proteínas Inativadoras do Complemento 1/genética , Proteína Inibidora do Complemento C1 , Complemento C4/análise , Proteínas do Sistema Complemento/fisiologia , Danazol/uso terapêutico , Antagonistas de Estrogênios/uso terapêutico , Feminino , Seguimentos , Humanos , Lactente , MasculinoRESUMO
Hereditary angioedema (HAE) is an inherited deficiency of C1 esterase inhibitor (C1 inh). The two types of genetic C1 inh deficiency are type I, which is quantitative, and type II, which is functional. For the purpose of the present study, four HAE patients were selected. None of them had received any androgenic therapy. The group included three type I and one type II cases. All patients that entered the protocol received danazol, 400 mg/day for 14 days. The complement system was evaluated by monitoring C4, hemolytic complement 50% (CH50), circulating immune complexes (CIC), and antigenic and functional C1 inh during the study. The level of complement factors at the beginning and at the end of this period demonstrated a statistically significant increase in C4 and CH50 and the disappearance of CIC, while C1 inh remained unmodified. These results suggest that the therapeutic effect of danazol may have two mechanisms of action: (1) promotion of C4 synthesis by anabolic effect resulting in an improvement of the complement system with the disappearance of CIC and (2) a minor increase in C1 inh level primarily due to the lack of its consumption.
Assuntos
Angioedema/genética , Proteínas Inativadoras do Complemento 1 , Complemento C4/antagonistas & inibidores , Danazol/uso terapêutico , Pregnadienos/uso terapêutico , Adulto , Angioedema/tratamento farmacológico , Complexo Antígeno-Anticorpo/análise , Proteínas Inativadoras do Complemento 1/análise , Feminino , Humanos , Imunodifusão/métodos , Masculino , Pessoa de Meia-IdadeRESUMO
Hereditary angioedema (HAE) is an inherited deficiency of the inhibitor of C1 esterase (C1 inh). Two types of genetic C1 inh deficiency have been described, type I: quantitative, and type II: functional. For the purpose of the present study, 4 out of 51 HAE patients were selected. None of them had received any previous androgenic therapy. The group was integrated by two type I and one type II cases. All patients that entered in the protocol received 400 mg/day of danazol over 14 days. The complement system was evaluated by monitoring C4, Hemolytic complement 50% (CH50), Circulating Immune Complexes (CIC), and antigenic and functional C1 INH during the study. The level of the complement factors at the beginning and the end of this period demonstrated a statistically significant increase of C4 and CH50 and the disappearance of CIC, while C1INH remained unmodified. These results suggest that the therapeutic effect of Danazol may have two mechanisms of action: i. promotion of C4 synthesis by anabolic effect resulting in an improvement of the complement system with the disappearance of CIC, and ii, a minor increase of C1 inh level primarily due to the lack of its consumption.