Hereditary angioedema (HAE) is a rare genetically mediated disease, associated with quantitative or qualitative genetic deficiency of C1-esterase inhibitor (C1-INH) caused by different point mutations within an abnormal C1-INH gene on chromosome 11. Symptoms include recurrent skin swellings, abdominal and laryngeal attacks. Abdominal symptoms can easily be mistaken for appendicitis or other surgical emergencies. Laryngeal edema is responsible for death in 20-30% of untreated cases. The recognition of this disorder is imperative as well as the availability of the right medication, since this kind of angioedema does not respond to antihistamines, corticosteroids or epinephrine.
Keywords: hereditary angioedema, C1-INH deficiency, management