[Therapeutic approach of hereditary angioedema].
OBJECTIVE
Hereditary Angioedema was first described by William Osler in 1888 and it is caused by a hereditary or acquired deficiency of C1 esterase inhibitor (C1-INH). Treatment is indicated for acute attacks or prophylaxis of angioedema which occur in the subcutaneous tissue respiratory or gastrointestinal tracts. Treatment includes attenuated androgens, inhibitors of kininogen or plasminogen, like tranexamic acid or e-aminocaproic acid and the administration of C1-INH concentrate. We describe the peculiarities of the treatment chosen for 10 patients (4 families) with HAE and their evolution.


METHODS
Ten patients (1-38 years old) with HAE were diagnosed by clinical history and laboratory evaluation. The following tests were performed for the complement system: C1-INH, C4 and C3 levels and hemolytic assay (CH50 and APH50) for the classic and alternative pathways. Treatment was initiated considering severity of symptoms, age, gender and therapeutic response of the patient.


RESULTS
Clinical evaluation showed: 4/10 patients with recurrent subcutaneous edema; 3/10 with previous laryngeal edema and 3/10 with sporadic symptoms. Different severity of symptoms was verified in the same family. The laboratory evaluation detected: low C1-INH levels (10/10); low serum C4 level (8/10); undetectable CH50 (3/10) and low CH50 levels (6/10); low APH50 levels (2/10). Six out of ten patients did not receive any specific treatment and 2 of them had high risk of asphyxia. One adolescent had been controlled with e-aminocaproic acid, one child had been changed from danazol to tranexamic acid, a 30 year old female patient had received oxandrolone and a 38 year old man had been treated with danazol.


CONCLUSIONS
Although HAE is caused by the same defect and affects members of the same family, various approaches have been taken to treat these patients. We observed different alternatives of prophylactic therapy for HAE, of which some did not require drug therapy.
Chagas
Kélem de Nardi
Kde N
Laboratório de Investigação Médica, Dermatologia e Imunodeficiência, LIM 56, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brazil.
Arruk
Viviana Galimbert
VG
Andrade
Maria Elisa Bertocco
ME
Vasconcelos
Dewton de Moraes
Dde M
Kirschfink
Michael
M
Duarte
Alberto José da Silva
AJ
Grumach
Anete Sevciovic
AS
D000293:Adolescent; D000328:Adult; D000367:Age Factors; D015119:Aminocaproic Acid / Q000627:therapeutic use; D000728:Androgens / Q000627:therapeutic use; D000799:Angioedema / Q000097:blood / Q000188:drug therapy* / Q000235:genetics; D000933:Antifibrinolytic Agents / Q000627:therapeutic use; D002648:Child; D002675:Child, Preschool; D003174:Complement C1 Inactivator Proteins / Q000172:deficiency* / Q000627:therapeutic use*; D003613:Danazol / Q000627:therapeutic use; D004305:Dose-Response Relationship, Drug; D004965:Estrogen Antagonists / Q000627:therapeutic use; D005260:Female; D006801:Humans; D008297:Male; D010074:Oxandrolone / Q000627:therapeutic use; D010375:Pedigree; D012720:Severity of Illness Index; D012737:Sex Factors; D014148:Tranexamic Acid / Q000627:therapeutic use
D000728:Androgens; D000933:Antifibrinolytic Agents; D003174:Complement C1 Inactivator Proteins; D004965:Estrogen Antagonists; D014148:Tranexamic Acid; D010074:Oxandrolone; D003613:Danazol; D015119:Aminocaproic Acid