Hereditary angioedema (HAE) is rare autosomal dominant disease, characterised by spontaneous and recurrent swellings in various parts of the body. The main inflammatory factor in HAE is bradykinin (a key mediator of non-allergic angioedema) and it is responsible for capillary leak. C1 esterase inhibitor (C1-INH) is a protease inhibitor that blocks the activation of the classic complement pathway, but there are also many others biochemical pathways, including kinin. Type I HAE is defined by low plasma levels of a normal C1 inhibitor (C1-INH).
Case presentation. A 34-year-old female patient presented to the hospital complained of swollen and painful legs, flatulence, palpebral and labial edema, dyspnea, dysuria, frequent herpetic infections of mouth and nose, subfebrile body temperature and was hoarse. Over the last 20 years she suffered from occasional edemas of the extremities and abdomen. Laboratory testing showed a reduced level of C1-INH, and with other test results normal we diagnosed the patient with HAE type I. For emergency situations, we prescribed icatibant (B2 bradykinin receptor antagonist) subcutaneously.
Individuals with HAE report episodic attacks during childhood that become more severe during adolescence. There is non-pitting edema in 3 predisposed places : subcutaneous tissue, the abdomen and the larynx. Edemas amplify during 12-24 hours and disappear during 3-5 days, with migrations to other locations. Treatment can be prophylactic, for acute attacks (icatibant) and before medical treatments.
HAE is a potentially lethal disease and should be considered if repeating edema of various body parts, painful swelling and tightening of the skin are present.
Keywords: hereditary angioedema, bradykinin, B2 bradykinin receptor antagonist