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

Abstract

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.

The symptom experience of hereditary angioedema (HAE) patients beyond HAE attacks: literature review and clinician interviews

“…With the advent of new HAE prophylactic therapies, patients experience fewer HAE attacks, and the intervals between HAE attacks may increase [13]. These therapies may additionally impact HRQoL and emotional well-being [30]. Further research is needed to determine the effect of being attack-free for longer intervals on the full symptom spectrum, including emotional well-being and physical functioning.…”

Development of the Angioedema Control Test—A patient‐reported outcome measure that assesses disease control in patients with recurrent angioedema

“…Recurrent AE disease activity can vary strongly over time, and insufficiently controlled disease goes along with an increased risk for life-threatening AE episodes and major impairment of patients' quality of life. 6,[16][17][18][19][20][21] On the other hand, an adjustment of treatment may increase treatment costs, for example when a CSU patient's therapy is changed from an antihistamine to omalizumab or when a prophylaxis with a C1 inhibitor or lanadelumab is initiated in HAE patients. 22,23 Accordingly, the assessment of disease control in recurrent AE should be performed by using a valid and reliable approach.…”

The international WAO/EAACI guideline for the management of hereditary angioedema – The 2021 revision and update

“…However, some patients with low attack rates also have markedly impaired QoL, possibly linked to the unpredictability of HAE and continuous fear of attacks, the need to avoid triggers of attacks, psychological distress due to chronic disease burden, and the presence of comorbid diseases, such as depression and anxiety, which are common in HAE patients. 247 It is, therefore, important for patients and their physicians to assess the impact of HAE on QoL, in addition to disease activity. Validated PROMs for the evaluation of HAE-driven QoL impairment include the HAE-QoL and AE-QoL.…”