[Clinical features of hereditary angioedema: analysis of 133 cases].
OBJECTIVE
To investigate the clinical characteristics of hereditary angioedema (HAE).


METHODS
The clinical data of 133 cases with HAE from 40 unrelated families were analyzed retrospectively.


RESULTS
Recurrent extremity swelling and/or facial and genital edema were reported in all patients (100%); 76.7% of the patients recalled abdominal symptoms; ascites was found in all 6 ultrasound examined patients in acute episodes. The ages of the patients ranged from 1.5 to 70. with the mean age of the first episode of 18 +/- 7. The time between onset and diagnosis was 16 years. Eight of the 133 patients were recognized as sporadic cases, without definite family history. The serum C1-INH levels of 130 patients were low, only the C1-INH levels of 3 cases in 1 family were a little bit higher than the normal level. Only one of the 40 families was diagnosed as with type II HAE (HAE-II). 43.6% of the patients received prophylaxis with danazol. Danazol had a good efficacy in all patients and were well tolerated by most of them.


CONCLUSIONS
A rare autosomal dominant disease, and characterized by recurrent episodes of cutaneous swelling, abdominal pain, and laryngeal edema, HAE can be fatal. Abdominal symptoms are often underestimated. HAE-II is very rare in China. Prophylaxis with danazol is effective and can be well tolerated.
Ren
Hua-li
HL
Department of Allergy, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China.
Zhang
Hong-yu
HY
D000293:Adolescent; D000328:Adult; D000368:Aged; D054179:Angioedemas, Hereditary / Q000097:blood / Q000235:genetics* / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D003174:Complement C1 Inactivator Proteins / Q000032:analysis; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D008297:Male; D008875:Middle Aged; D012008:Recurrence; D012189:Retrospective Studies; D011795:Surveys and Questionnaires
D003174:Complement C1 Inactivator Proteins