ⓘ Hereditary angioedema


ⓘ Quincke edema

Hereditary angioedema is a disorder that results in recurrent attacks of severe swelling. The swelling most commonly affects the arms, legs, face, intestinal tract, and airway. Itchiness does not typically occur. If the intestinal tract is affected abdominal pain and vomiting may occur. Swelling of the airway can result in its obstruction. Attacks, without preventive treatment, typically occur every couple of weeks and last for a few days.

There are three main types of Hae. Type I and II caused by mutations in the gene SERPING1, which causes the C1 inhibitor protein, whereas type III is often due to a mutation in the gene of factor XII. This leads to an increase in the number of bradykinin, which promotes swelling. The condition can be inherited from a persons parents in the autosomal dominant form or be a new mutation. The attack triggers might include minor trauma or stress, but often occurs without obvious preceding event. Diagnosis of type I and type II, based on the measurement of C4 and C1-inhibitor levels.

Governance requires efforts to prevent attacks and treat attacks when they occur. During an attack of supportive therapy such as intravenous fluids and support of the airway may be required. Preparation of C1 inhibitor can be used for the prevention and treatment. Ecallantide and icatibant can be used to treat acute attacks.

This disorder affects approximately one in 50.000 people. The condition is usually first noticed in childhood. Type I and II equally women and men. Type III affects women more often than men. When the airway without treatment, death occurs approximately 25%. Treatment results are usually good. The condition was first described in 1888 by William Osler.