A rare but potentially life-threatening disease, HAE is most frequently caused by a genetic disorder where the protein C1-inhibitor esterase is inadequately synthesized or dysfunctional.
C1-inhibitor is a critical mediator of inflammation. With inadequate levels or malfunctioning C1-inhibitor, excess plasma kallikrein can become activated, leading the body to produce the vasopeptide bradykinin in excessive amounts, which in turn leads to increased vascular permeability and sudden onset of angioedema.
Angioedema attacks can occur in the limbs, face, gastrointestinal tract and/or airways. Laryngeal episodes can happen to any patient and are potentially life-threatening.