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Clinical characteristics and burden of illness in patients with hereditary angioedema: findings from a multinational patient survey

  • Mendivil, Joan1
  • Murphy, Ryan2
  • de la Cruz, Marie2
  • Janssen, Ellen2
  • Boysen, Henrik Balle3
  • Jain, Gagan4
  • Aygören-Pürsün, Emel5
  • Hirji, Ishan4
  • Devercelli, Giovanna4
  • 1 Takeda Pharmaceuticals International AG, Thurgauerstrasse 130, 8152 Glattpark-Opfikon, Zurich, Switzerland
  • 2 ICON,
  • 3 HAE International (HAEi), Horsens, Denmark
  • 4 Takeda Pharmaceutical Company Limited, Lexington, MA USA
  • 5 University Hospital Frankfurt, Goethe University,
Published Article
Orphanet Journal of Rare Diseases
Springer (Biomed Central Ltd.)
Publication Date
Feb 18, 2021
DOI: 10.1186/s13023-021-01717-4
PMID: 33602292
PMCID: PMC7893968
PubMed Central


Background Hereditary angioedema (HAE) is a rare, debilitating, genetic disease characterized by unpredictable, recurrent, and potentially fatal swelling of the skin and mucous membranes. We conducted a noninterventional, cross-sectional, web-based survey of patients with a self-reported diagnosis of HAE type 1/2 in Australia, Austria, Canada, France, Germany, Spain, Switzerland, and the United Kingdom to gain a comprehensive real-world understanding of the characteristics of HAE and its burden from the perspective of the patient. The survey included questions on clinical and demographic characteristics, burden of disease, and treatment. Instruments used to measure patient-reported outcomes included the Angioedema Quality of Life questionnaire (AE-QoL), 12-Item Short-Form Health Survey (SF-12v2), Angioedema Control Test (AECT), Hospital Anxiety and Depression Scale (HADS), and Work Productivity and Impairment questionnaire (WPAI). Data were analyzed with descriptive statistics. Results A total of 242 patients (67.4% female; mean [range] age 43.8 [18–92] years) completed the survey. The mean (SD) age at first symptoms was 11.5 (8.9) years, while diagnosis occurred at 20.8 (13.2) years. Patients reported a mean (SD) of 12.5 (14.1) attacks in the past 6 months. The most recent attack occurred within the past month in 79.7% of patients; most were of moderate severity, 6.6% affected the larynx, 21.9% lasted ≥ 3 days, and 76.4% were treated with on-demand medication. Hospitalizations and emergency/urgent care visits were highest for patients with more attacks. At the time of the survey, 62.4% of patients were using long-term prophylaxis, including 34.4% using androgens. Moderate to severe anxiety and depression were reported in 38.0% and 17.4% of patients, respectively, as measured using the HADS. The severity of anxiety and depression was associated with poorer quality of life and productivity, measured using the AECT (mean overall score 8.00 [moderate perceived disease control]), AE-QoL, WPAI, and SF-12v2. Scores for AECT, AE-QoL, and WPAI were also worse with a higher number of attacks. Conclusions This survey study of a broad international sample of patients with HAE showed that despite the availability of on-demand treatment and long-term prophylaxis for the prevention of attacks, patients across a wide geographical area continue to have high disease activity, likely due to restrictions in the availability of medications or incorrect use. Subsequently, significant disease burden, including impaired quality of life and mental health and decreased productivity, was evident. Increased patient education and access to newer, more effective therapies are needed.

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