Hereditary angioedema is an autosomal dominant disorder, caused by the deficiency of the C1 esterase inhibitor. Reduced serum level or activity of the C1 esterase inhibitor leads to the autoactivation of the classical complement pathway. The uncontrolled complement activation generate vasoactive mediators that induce edema. The clinical picture of hereditary angioedema is characterized by recurrent edema on subcutaneous tissue (face, extremities) and mucous membranes including the larynx and the intestines. The diagnosis is based on the patient's family history, clinical manifestations as well as the determination of serum C4 and C1 esterase inhibitor level and activity. Attacks of laryngeal or gastrointestinal edema lead to life-threatening conditions. Prevention is an essential element of therapy including short- and long-term drug profilaxis and the elimination of precipitating factors. The acute life-threatening edematous attack requires special emergency treatment. Based on data from literature and their ten-year experience accumulated through the treatment and follow up patients, the authors review the etiology, pathomechanism, clinical manifestations, differential diagnosis and therapy of hereditary angioedema. It is concluded that early diagnosis and treatment, as well as the continuous monitoring of patients substantially mitigates mortality from hereditary angioedema and precludes the occurrence of edematous attacks.
|Translated title of the contribution||On the hereditary angioneurotic edema|
|Number of pages||7|
|Journal||Lege Artis Medicinae|
|Publication status||Published - Mar 9 1998|
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