Abstract
Purpose
A new type of hereditary angioedema was described recently. It was characterized by
recurrent bouts of angioedema in various organs and normal C1 inhibitor and was observed
mainly in women. Our aim was to conduct a detailed study of the clinical features
of this condition.
Methods
A total of 138 patients with hereditary angioedema and normal C1 inhibitor who belonged
to 43 unrelated families were examined through the use of standardized questionnaires.
Results
A majority of patients with hereditary angioedema and normal C1 inhibitor had skin
swellings (92.8%), tongue swellings (53.6%), and abdominal pain attacks (50%). Laryngeal
edema (25.4%) and uvular edema (21.7%) also were frequent, whereas edema episodes
of other organs were rare (3.6%). Facial swellings and tongue involvement occurred
considerably more frequently compared with hereditary angioedema caused by C1 inhibitor
deficiency. The number of patients with recurrent edema of only 1 organ was higher
than in classic hereditary angioedema. The number of patients with disease onset in
adulthood was significantly higher in hereditary angioedema with normal C1 inhibitor
compared with classic hereditary angioedema. Erythema marginatum was not observed.
A subgroup of patients from families with coagulation factor XII mutations showed
the same symptoms as the other patients.
Conclusions
Hereditary angioedema with normal C1 inhibitor levels shows a characteristic pattern
of clinical symptoms. The main clinical features include skin swellings, tongue swellings,
and abdominal pain attacks. There are many differences in the clinical symptoms and
course of disease between this type of hereditary angioedema and classic hereditary
angioedema caused by a genetic C1 inhibitor deficiency.
Keywords
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© 2007 Elsevier Inc. Published by Elsevier Inc. All rights reserved.
