Rethinking the management of hereditary angioedema.

Background

Hereditary angioedema with C1INH deficiency (HAE-C1INH) is a rare, debilitating genetic disorder characterized by recurrent, unpredictable attacks. Although treatments exist, patients with HAE still alter their lives to avoid triggers and experience substantial physical, psychosocial, and financial burdens.

Objective

To estimate the burden that HAE-C1INH patients experience despite currently approved therapies, aiming to identify unmet needs related to HAE, its therapies and the ability to achieve normalization of life.

Methods

A web-based survey was conducted from March to April 2025 among 100 US adults with HAE-C1INH currently receiving long-term prophylaxis and/or on-demand therapies. Responses captured attack frequency, the impact of living with HAE, avoidance of attack triggers, and the patients' unmet needs. Descriptive statistical analysis was conducted.

Results

Even with treatment, 80% of respondents reported ≥1 HAE attack in the past year and 61% thought about HAE at least weekly. Mental health was the aspect that respondents felt was most impacted by HAE (54% of respondents), and 73% reported taking ≥2 measures to avoid attack triggers. Several concerns impacted the ability to reach normalization; lifetime use of medication was the most commonly reported concern (68% of respondents). The greatest unmet needs associated with long-term prophylaxis were cost- and access-related.

Conclusion

Substantial unmet needs related to disease control and achieving normalization remain for patients with HAE-C1INH, despite existing treatments. This study re-enforces the need to not only assess the frequency and severity of attacks, but also the psychosocial, mental, logistical, and financial burden of lifelong management of HAE-C1INH in clinical practice.