Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts.
RTI Health Solutions, Research Triangle Park, North Carolina.
Ann Allergy Asthma Immunol. 2020 Jun;124(6):600-607. doi: 10.1016/j.anai.2020.02.018. Epub 2020 Mar 10.
Hereditary angioedema (HAE) with C1-inhibitor deficiency is associated with painful, potentially fatal attacks affecting subcutaneous or submucosal tissues.
To evaluate HAE burden from the patients' perspective.
This was a noninterventional survey of patients with HAE in the United States, conducted from March 17 to April 28, 2017. Patients were recruited through the US Hereditary Angioedema Association. Key eligibility criteria included the following: (1) aged 18 years and older, (2) self-reported physician diagnosis of HAE type I or II, (3) 1 or more HAE attacks or prodromal symptoms within the last year, and (4) receipt of HAE medication for an attack within the last 2 years. Descriptive analyses were conducted.
A total of 445 patients completed the survey. Most patients (92.8%) were aged 18 to 64 years with HAE type I (78.4%) and had a positive family history (78.4%). Mean (SD) ages at symptom onset and diagnosis were 12.5 (9.1) and 20.1 (13.7) years, respectively. Most patients (78.7%) experienced an attack within the past month. The abdomen (58.0%) and extremities (46.1%) were commonly affected sites; pain (73.9%) and abdominal (57.0%) and nonabdominal (55.1%) swelling were frequently reported symptoms. Most patients (68.5%) had received or were currently receiving long-term prophylaxis. Most patients (88.8%) reported visiting allergists or immunologists, whereas 9.2% visited emergency departments or urgent care clinics. Per the Hospital Anxiety and Depression Scale, 49.9% and 24.0% of respondents had anxiety and depression, respectively. Mean Hereditary Angioedema-Quality of Life scores were generally lower with higher attack frequency. General health was "poor" or "fair" for 24.8% of patients. Mean (SD) percentage impairments were 5.9% (14.1%) for absenteeism, 23.0% (25.8%) for presenteeism, 25.4% (28.1%) for work productivity loss, and 31.8% (29.7%) for activity impairment.
Despite treatment advances, patients with HAE in the United States continue to have a high burden of illness.
遗传性血管性水肿（HAE）伴 C1 抑制剂缺乏症与影响皮下或粘膜下组织的疼痛性、潜在致命性发作有关。
从患者角度评估 HAE 的负担。
这是一项在美国进行的、针对 HAE 患者的非干预性调查，于 2017 年 3 月 17 日至 4 月 28 日进行。患者通过美国遗传性血管性水肿协会招募。主要入选标准包括：（1）年龄≥18 岁，（2）自述经医生诊断为 I 型或 II 型 HAE，（3）过去 1 年内有 1 次或多次 HAE 发作或前驱症状，（4）过去 2 年内接受过 HAE 药物治疗发作。进行描述性分析。
共 445 例患者完成了调查。大多数患者（92.8%）年龄为 18 至 64 岁，为 I 型 HAE（78.4%），且有阳性家族史（78.4%）。症状发作和诊断的平均（SD）年龄分别为 12.5（9.1）岁和 20.1（13.7）岁。大多数患者（78.7%）在过去 1 个月内有发作。腹部（58.0%）和四肢（46.1%）是常见的受累部位；疼痛（73.9%）和腹部（57.0%）和非腹部（55.1%）肿胀是常报告的症状。大多数患者（68.5%）接受或正在接受长期预防治疗。大多数患者（88.8%）报告曾就诊于过敏症专家或免疫学家，而 9.2%的患者曾就诊于急诊或紧急护理诊所。根据医院焦虑和抑郁量表，分别有 49.9%和 24.0%的患者有焦虑和抑郁。遗传性血管性水肿生活质量问卷的平均评分一般随发作频率的增加而降低。24.8%的患者总体健康状况为“差”或“一般”。缺勤率的平均（SD）百分比为 5.9%（14.1%），工作效率下降率为 23.0%（25.8%），生产力损失率为 25.4%（28.1%），活动受限率为 31.8%（29.7%）。
尽管治疗取得了进展，但美国的 HAE 患者仍有较高的疾病负担。
