Takeda Pharmaceuticals International AG, Thurgauerstrasse 130, 8152, Glattpark-Opfikon, Zurich, Switzerland.
ICON, Gaithersburg, MD, USA.
Orphanet J Rare Dis. 2021 Feb 18;16(1):94. doi: 10.1186/s13023-021-01717-4.
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.
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.
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.
遗传性血管性水肿（HAE）是一种罕见的、使人虚弱的遗传性疾病，其特征为皮肤和黏膜不可预测、反复且可能致命的肿胀。我们对澳大利亚、奥地利、加拿大、法国、德国、西班牙、瑞士和英国自我报告诊断为 HAE 1/2 型的患者进行了一项非干预性、横断面、基于网络的调查，以便从患者角度全面了解 HAE 的特征及其疾病负担。该调查包括有关临床和人口统计学特征、疾病负担和治疗的问题。用于测量患者报告结果的工具包括血管性水肿生活质量问卷（AE-QoL）、12 项简明健康调查（SF-12v2）、血管性水肿控制测试（AECT）、医院焦虑和抑郁量表（HADS）以及工作生产力和障碍问卷（WPAI）。使用描述性统计数据对数据进行分析。
共有 242 名患者（67.4%为女性；平均[范围]年龄 43.8[18-92]岁）完成了调查。首次出现症状的平均（SD）年龄为 11.5（8.9）岁，而诊断年龄为 20.8（13.2）岁。患者报告过去 6 个月平均（SD）发生 12.5（14.1）次发作。过去一个月内最近发生的发作占 79.7%；大多数为中度严重程度，6.6%影响喉部，21.9%持续时间≥3 天，76.4%按需使用药物治疗。发作次数较多的患者更需要住院治疗和急诊/紧急护理。在调查时，62.4%的患者正在使用长期预防治疗，其中 34.4%使用雄激素。分别有 38.0%和 17.4%的患者报告有中度至重度焦虑和抑郁，这是使用 HADS 测量的结果。焦虑和抑郁的严重程度与使用 AECT（整体平均评分为 8.00[中度感知疾病控制]）、AE-QoL、WPAI 和 SF-12v2 测量的较差生活质量和生产力相关。随着发作次数的增加，AECT、AE-QoL 和 WPAI 的评分也更差。
这项对广泛国际 HAE 患者样本的调查研究表明，尽管存在按需治疗和长期预防治疗以预防发作，但来自广泛地理区域的患者疾病活动度仍然很高，这可能是由于药物供应受限或使用不当所致。随后，明显的疾病负担，包括生活质量下降和心理健康受损以及生产力下降，也很明显。需要增加对患者的教育并提供更新、更有效的治疗方法。
