Case Studies in Hereditary Angioedema: Moving Beyond Crisis to Long-Term Prevention

Hereditary angioedema (HAE) is an autosomal dominant condition that causes recurring, unpredictable, and potentially fatal attacks resulting in a profound disease burden and diminished health-related quality of life (QoL). Recent advances have led to new therapies for HAE, including long-acting prophylactic therapies that have improved efficacy, tolerability, and convenience, compared to earlier treatments. Many health care providers are unaware of HAE and its diagnosis, particularly the differentiation of HAE (which is mediated by bradykinin) from angioedema caused by mast-cell"mediated and histaminergic mechanisms. Although the laboratory and clinical diagnosis of HAE is straightforward, it is often delayed by years. Postponed diagnosis puts patients at risk of frequent emergency department visits, hospitalization, unnecessary surgeries, and potentially lethal attacks. Ineffective treatments such as epinephrine and corticosteroids are often given to patients with HAE. Health care providers need education to better recognize HAE symptoms in order to make a timely and accurate diagnosis, and provide effective treatments and prophylaxis to prevent attacks, reduce disease burden, and improve QoL.