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Rethinking the management of hereditary angioedema.

Paula Busse1, Kim Wilson2, Henriette Farkas3

  • 1From the Division of Clinical Immunology, Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, New York.

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Summary
This summary is machine-generated.

Even with current treatments, hereditary angioedema with C1INH deficiency (HAE-C1INH) patients face significant burdens. Unmet needs in disease control and life normalization persist, highlighting the need for comprehensive management strategies.

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Area of Science:

  • Medical research
  • Patient-reported outcomes
  • Rare disease management

Background:

  • Hereditary angioedema with C1INH deficiency (HAE-C1INH) is a rare, debilitating genetic disorder causing recurrent, unpredictable attacks.
  • Despite available treatments, HAE patients experience significant physical, psychosocial, and financial burdens, altering their lives to avoid triggers.

Purpose of the Study:

  • To estimate the burden experienced by HAE-C1INH patients on current therapies.
  • To identify unmet needs in HAE management, therapies, and achieving life normalization.

Main Methods:

  • A web-based survey was conducted in March-April 2025 with 100 US adults with HAE-C1INH on long-term prophylaxis and/or on-demand therapies.
  • Data collected included attack frequency, impact of HAE, trigger avoidance, and unmet patient needs.
  • Descriptive statistical analysis was performed.

Main Results:

  • 80% of treated patients reported at least one HAE attack in the past year; 61% thought about HAE weekly.
  • Mental health was most impacted (54%), with 73% taking two measures to avoid triggers.
  • Concerns about lifelong medication use (68%) and cost/access for prophylaxis were major unmet needs.

Conclusions:

  • Significant unmet needs in disease control and life normalization persist for HAE-C1INH patients despite existing treatments.
  • The study emphasizes assessing psychosocial, mental, logistical, and financial burdens in lifelong HAE-C1INH management.
  • Comprehensive clinical practice evaluation is needed beyond attack frequency and severity.