Hereditary Angioedema: Spotlighting Disease Burden Insights


This analysis was conducted to evaluate the burden and disease characteristics of all 3 types of HAE among a set of Canadian patients.

Jean-Nicolas Boursiquot

Credit: LinkedIn

Jean-Nicolas Boursiquot

Credit: LinkedIn

Hereditary angioedema (HAE) results in frequent attacks as well as a high disease burden for all 3 HAE types, according to new findings, though the subtype of the condition may differentially impact patients’ needs for care.1

The research team who reached these conclusions noted the 3 types of HAE that exist, including those with a deficit of C1- inhibitor levels, those that have dysfunctional C1-inhibitor levels, and those known to have normal C1-inhibitor function (type I, II, and HAE nC1-INH, respectively).

These new findings were the conclusion of an analysis designed to evaluate the characteristics and burden of HAE among Canadian patients with HAE types I, II, and normal C1 inhibitor levels. The investigators noted the urgent necessity of awareness-raising and education on the disease among clinicians.

This research was led by Jean-Nicolas Boursiquot, of the Centre Hospitalier Universitaire de Québec in Canada. Boursiquot noted some of the issues reported among HAE patients with moderate disease intensity, including impacts on daily life, work or school productivity, and quality of life.2

Background and Methods

“Data on the clinical profile and disease burden of HAE in Canada are limited in all types of HAE, particularly in patients with HAE nC1-INH,” Boursiquot and colleagues wrote. “The present survey aimed to assess the disease characteristics of all three HAE types and their burden in a cohort of Canadians.”

The investigators implemented a survey methodology, working with HAE experts to formulate survey questions designed to characterize the presentation of HAE and its characteristics among a cohort of subjects in Quebec. The Hereditary Angioedema Quality of Life (HAE-QoL) questionnaire was used as inspiration.

Additional questions were included to address specific study objectives that were not fully covered by the validated questionnaire. The survey, comprising 46 questions, delves into demographics, HAE presentation, resource utilization, quality of life (QoL), and treatment modalities, including on-demand versus prophylactic approaches.

Participants deemed eligible had to be aged 16 years or older and have a diagnosis of HAE which had been confirmed. The subjects’ verification of their HAE was carried out by the organization ‘Angioedème héréditaire du Québec’ (AOHQ). Notably, the research team expressed that each of those taking part in the research were under the care of board-certified immunologists who specialized in HAE.


The investigators ended up with 35 survey respondents and reported that the most prevalent form of HAE was shown to be type I, among 46% of the subjects. This was then followed by nC1-INH among 43%.

The research team found that female subjects had symptoms of HAE at a far younger age than their male counterparts. The team added that 69% of the participants had received unnecessary treatments and procedures prior to their diagnosis, noting that there had been an average delay of 10 years from the point of HAE symptom onset to the point of diagnosis.

The research team reported that most HAE attacks had been either severe or moderate, noting that nearly half of subjects put off seeking clinician attention for more than an hour at the time of their previous emergency department visit. They found that 42% of the subjects reported weekly HAE attacks prior to their diagnosis, adding that the most common locations of the HAE attacks had been reported to be the patients’ abdomens among 89%, followed by 66% for the larynx, feet (66%), hands (63%), and face (63%).

HAE was also shown by the team to have affected subjects’ health-related QoL substantially, resulting in notable functional limitations in both their personal and professional lives. The investigators commented that patients with HAE nC1-INH had been shown to be more frequently given tranexamic acid to address long-term prophylaxis as opposed to the other 2 types.

That said, those subjects’ condition was found to be less controlled, leading then to more HAE attacks and visits to emergency departments.

“In conclusion, HAE presentation in Canadians is characterized by frequent moderate to severe attacks and a high burden of disease,” they wrote. “Individuals face barriers at each step, from diagnosis to treatment and disease management. This indicates an urgent need for increased awareness and education on HAE among Canadian physicians, as well as continued advancements in treatment.”


  1. Boursiquot JN, Chapdelaine H, St-Pierre C, Hébert J. The Disease Burden of Hereditary Angioedema: Insights from a Survey in French-Canadians from Quebec. J Immunol Res. 2024;2024:3028617. Published 2024 Mar 7. doi:10.1155/2024/3028617.
  2. W. R. Lumry, A. J. Castaldo, M. K. Vernon, M. B. Blaustein, D. A. Wilson, and P. T. Horn, “The humanistic burden of hereditary angioedema: Impact on health-related quality of life, productivity, and depression,” Allergy and Asthma Proceedings, vol. 31, no. 5, pp. 407–414, 2010.
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