Clinical Medicine Insights: Blood Disorders

Hereditary angioedema (HAE) is a relatively rare disease characterized by acute episodes of swelling. These swellings can be disfiguring, painful and life-threatening. Since the symptoms occur in different areas and most patients experience a delay in their diagnosis, resulting in unnecessary suffering and dangerous situations. HAE can have a tremendous impact on the quality of life.

The major genetic deficiency in this disorder is either an absent or nonfunctional C1INH which regulates the complement, fibrinolitic, kalikrein and plasmin pathways.