Hereditary angioedema: new findings concerning symptoms, affected organs, and course.
OBJECTIVE
Hereditary angioedema (HAE) due to C1 inhibitor deficiency is clinically characterized by relapsing skin swellings, abdominal pain attacks, and life-threatening upper airway obstruction. Our aim was to examine a temporal and spatial pattern of the edema episodes by evaluating the long-term course of hereditary angioedema in order to establish a specific swelling pattern.


METHODS
Data were generated from 221 patients with C1 inhibitor deficiency by asking them about symptoms they experienced during their edema episodes. Documentation was accomplished through the use of standardized questionnaires.


RESULTS
A total of 131110 edema episodes were observed. Clinical symptoms started at a mean age of 11.2 (SD 7.7) years. During the following cumulative 5736 years, only 370 (6.5%) symptom-free years occurred. Skin swellings, including extremity, facial, genital, and trunk swellings, and abdominal attacks occurred in 97.4% of all edema episodes of the disease. The other episodes were laryngeal edema (0.9%); edema of the soft palate (0.6%); tongue swellings (0.3%); headache episodes (0.7%); episodes affecting urinary bladder (0.3%), chest (0.2%), muscles (0.4%), joints (0.1%), kidneys (0.1%), and esophagus (0.05%), and were partly combined with other edema episodes. The per-patient analysis and the per-episode analysis revealed markedly discrepant results. On average, women had a more severe course of the disease than men. Patients with early onset of clinical symptoms were affected more severely than those with late onset.


CONCLUSIONS
The described swelling pattern is specific for HAE and allows a tentative diagnosis based on clinical symptoms and the course of the disease.
Department of Dermatology, Johannes Gutenberg University, Mainz, Germany. bork@hautklinik.klinik.uni-mainz.de
Konrad
K
Bork
Gabriele
G
Meng
Petra
P
Staubach
Jochen
J
Hardt
D000293:Adolescent; D000328:Adult; D000799:Angioedema / Q000145:classification / Q000235:genetics / Q000503:physiopathology*; D002648:Child; D003174:Complement C1 Inactivator Proteins / Q000172:deficiency; D050718:Complement C1 Inhibitor Protein; D018572:Disease-Free Survival; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D012189:Retrospective Studies; D015843:Serpins / Q000172:deficiency; D012720:Severity of Illness Index
D003174:Complement C1 Inactivator Proteins; D050718:Complement C1 Inhibitor Protein; C469952:SERPING1 protein, human; D015843:Serpins