Hereditary angioedema

Major advances have been made in understanding the clinical signs and symptoms, the pathophysiology and the treatment of hereditary angioedema. This disease that often begins in childhood is caused by partial absence of the plasma protein C1-inhibitor. At the present time five pharmaceutical companies are planning or conducting clinical trials of a variety of agents to treat acute attacks of this illness. Here we review our current understanding of this illness and the current approaches to treatment.

This disease is often missed in childhood or confused with other illness. The clinical signs and symptoms are reviewed. The importance of the kinin generating pathway and bradykinin in causing edema has become central to our understanding of pathophysiology. The many new approaches to therapy all appear promising.

Currently we have effective chronic therapy for this disease, although available drugs have real or potential difficulties in use in children. In the future it is likely that effective therapy for acute attacks of disease will become available in the US. It is important to recognize the clinical manifestations of this potentially fatal illness and to understand the therapeutic options.