Purpose: Because little is known about the burden of illness associated with hereditary angioedema (HAE), this article reviews the challenges in identifying and managing this rare disease and its humanistic and economic burdens.
Design: We identified studies examining the burdens associated with HAE. Conducting larger studies using claims analyses for HAE is particularly challenging, owing to the rarity of the disease in health plans and to diagnostic/coding challenges. Because the data have been limited, larger surveys of patients have been conducted. They are explored here.
Methodology: We searched for studies addressing attack characterization, acute treatment, chronic disease management, adverse events, psychosocial burden, effect on work, and patient costs.
Principal findings: HAE may result in physical and/or psychological disability because of the lack of effective treatments and the unpredictability of symptom severity. The reported average annual total costs per patient are approximately $42,000, ranging from approximately $14,000 for mild cases to approximately $96,000 for severe disease. It is not known how much of this is paid by the patients, although it can be assumed that it is substantial for some.
Conclusion: The appropriate use of disease-specific treatments for HAE may improve patients’ quality of life and reduce HAE-associated morbidity and mortality while also reducing costs associated with hospitalizations and other interventions. Future cost-effectiveness studies are needed to examine these issues. Disease-specific agents are expected to significantly change the HAE treatment paradigm in the United States and dramatically improve the efficacy of medical care for these patients.
Key words: hereditary angioedema, humanistic burden, economic burden