PDF(Pubmed)
Abstract：
Background: Hereditary angioedema (HAE) is a rare genetic condition characterized by painful and often debilitating swelling attacks. Little is known about the differences in outcomes between patients with HAE types I or II (type I: HAE caused by C1 esterase inhibitor deficiency; type II: HAE caused by C1 esterase inhibitor dysfunction), with decreased or dysfunctional C1 esterase inhibitor (C1-INH), and those with normal C1-INH (nC1-INH-HAE). Objective: To compare physician- and patient-reported real-world outcomes in patients with HAE types I/II versus patients with nC1-INH-HAE. Methods: Data were drawn from the Adelphi HAE Disease Specific ProgrammeTM a real-world, cross-sectional survey of HAE-treating physicians and their patients in the United States conducted between July and November 2021. Physicians reported patient disease activity and severity, and recent attack history. Patient-reported outcomes were collected. Bivariate tests used were either the Student\'s t-test, the Fisher exact test, or Mann-Whitney U test. Results: Physicians (N = 67) provided data on 368 patients (92.4% HAE types I/II and 7.6% nC1-INH-HAE). Physicians reported that a higher proportion of patients with nC1-INH-HAE had moderate or high disease activity and moderate or severe disease severity both at diagnosis and at data collection versus those with HAE types I/II. Patients with nC1-INH-HAE versus patients with HAE types I/II experienced increased attack severity (34.6% versus 4.4%) and hospitalization rate during the most recent attack (39.3% versus 6.6%), and reported lower health status and quality of life, via the European Quality of Life 5 Dimension 5 Level (US tariff) and Angioedema Quality of Life, respectively. On average, 25% of the patients with nC1-INH-HAE reported absenteeism and work or activity impairment due to HAE compared with 2.7% of patients with HAE types I/II. Both patient groups reported improvements in disease activity and severity from diagnosis to the time of data collection. Conclusion: These real-world findings suggest that patients with nC1-INH-HAE have increased disease activity and severity, and experience greater impairment to their quality of life, work, and daily functioning than patients with HAE types I/II. Powered statistical analyses are required to confirm these findings.
摘要：
背景：遗传性血管性水肿（HAE）是一种罕见的遗传性疾病，其特征是疼痛且经常使人衰弱的肿胀发作。对I型或II型HAE患者的预后差异知之甚少（I型：C1酯酶抑制剂缺乏引起的HAE；II型：C1酯酶抑制剂功能障碍引起的HAE），C1酯酶抑制剂（C1-INH）减少或功能失调，和那些有正常C1-INH（nC1-INH-HAE）。目的：比较I/II型HAE患者与nC1-INH-HAE患者的医师和患者报告的真实世界结果。方法：数据来自真实世界的AdelphiHAE疾病特异性程序TM，2021年7月至11月对美国HAE治疗医生及其患者进行的横断面调查.医生报告患者疾病活动和严重程度，和最近的攻击历史。收集患者报告的结果。使用的双变量检验是学生t检验，费希尔精确检验,或曼-惠特尼U测试。结果：医师（N=67）提供了368例患者（92.4％I/II型HAE和7.6％nC1-INH-HAE）的数据。医生报告说，与I/II型HAE患者相比，nC1-INH-HAE患者在诊断和数据收集时具有中度或高度疾病活动性以及中度或重度疾病严重程度的比例更高。nC1-INH-HAE患者与I/II型HAE患者相比，在最近一次发作期间，发作严重程度（34.6％对4.4％）和住院率（39.3％对6.6％）增加，报告的健康状况和生活质量较低，通过欧洲生活质量5维5级(美国关税)和血管性水肿生活质量，分别。平均而言,25％的nC1-INH-HAE患者报告因HAE而缺勤，工作或活动障碍，而I/II型HAE患者为2.7％。两组患者均报告了从诊断到数据收集时疾病活动性和严重程度的改善。结论：这些真实世界的研究结果表明，nC1-INH-HAE患者的疾病活动性和严重程度增加，并对他们的生活质量造成更大的损害，工作,和日常功能高于I/II型HAE患者。需要动力统计分析来确认这些发现。
