# Burden of disease in adult patients with hereditary angioedema: results from a multinational survey

## TL;DR

This study surveyed adults with hereditary angioedema across multiple countries to assess the disease's impact on quality of life, productivity, and disease control.

## Contribution

The study provides new insights into the real-world burden of hereditary angioedema in a multinational patient population.

## Key findings

- Patients reported frequent HAE attacks and significant health-related quality of life impairment.
- Only 36.6% of participants used first-line long-term prophylaxis as recommended by guidelines.
- Work productivity was significantly impaired, with an average loss of 26.9%.

## Abstract

Hereditary angioedema (HAE) is a rare genetic disease manifesting as recurrent painful, burdensome, and potentially life-threatening swelling attacks. This noninterventional, cross-sectional, web-based survey of adult (aged ≥ 18 years) participants with HAE from Argentina, Brazil, Colombia, Croatia, Denmark, Germany, Hungary, Ireland, Norway, Poland, Portugal, Romania, and Sweden sought to deepen the understanding of HAE burden. Individuals were eligible if they had a self-reported physician diagnosis of HAE, ≥ 1 HAE attack or prodromal symptom within the last year, and received HAE medications within the last 2 years. Data were collected on participant demographics, clinical characteristics, and patient-reported outcomes using validated questionnaires; these included disease control (Angioedema Control Test [AECT]), health-related quality of life (HRQoL; Angioedema Quality of Life [AE-QoL]), general health status (12-Item Short Form Survey [SF-12 v2]), anxiety and depression (Hospital Anxiety and Depression Scale [HADS]), and work productivity impairment (Work Productivity and Activity Impairment: General Health [WPAI:GH]).

Overall, 260 participants were included; age (mean ± SD) was 43.3 ± 13.5 years; 72.7% of participants were female, 89.6% had HAE due to C1 inhibitor deficiency, and 78.5% reported family history of HAE. Participants reported 11.5 ± 14.2 (mean ± SD) HAE attacks in the 6 months before the survey, with 68.5% reporting their most recent attack occurring within the last 4 weeks. Of 260 participants, 153 (58.8%) reported currently using any medication for long-term prophylaxis, but only 56/153 (36.6%) reported using a first-line LTP option per international guidelines. Patient-reported disease burden included, on average, moderate to large HRQoL impairment (AE-QoL total score [mean ± SD] 42.9 ± 23.2), poor disease control (AECT score [mean ± SD] 7.4 ± 3.1), and work productivity impairment (WPAI:GH overall work productivity loss score [mean ± SD] 26.9% ± 32.2). Participants with a lower versus higher number of HAE attacks in the past 6 months reported better disease control, less HRQoL impairment, and less work productivity loss.

Results of this large multinational survey highlight that patients included in this study, most of whom were not using first-line LTP, reported being burdened by their disease, including frequent HAE attacks, HRQoL impairment, poor disease control, and work productivity impairment.

The online version contains supplementary material available at 10.1186/s13023-025-04134-z.