Department of Biomedical and Clinical Sciences Luigi Sacco, University of Milan, ASST Fatebenefratelli Sacco, Milan, Italy.
Allergy Department, Hospital La Paz Institute for Health Research, Madrid, Spain.
Orphanet J Rare Dis. 2018 Apr 10;13(1):51. doi: 10.1186/s13023-018-0797-3.
Hereditary angioedema with C1 inhibitor deficiency is a disabling, potentially fatal condition characterized by recurrent episodes of swelling. Self-treatment is recommended, in order to reduce admissions to the Emergency Room and the time between the onset of the attack and the treatment, resulting in a better treatment outcome and an improved quality of life (QoL). The purpose of this study is to assess the safety, tolerability, and effect on QoL of self-administration of pnf C1-INH for IV use (Berinert®).
An observational, monocenter, prospective study was designed. Patients referring to a center for angioedema that attended two sessions of self-infusion training course in the period March 2014-July 2015 were enrolled in the study. The primary endpoint was to monitor the safety and feasibility of pnf C1-INH self-infusion. The secondary endpoint was to evaluate the effect of self-infusion on the QoL, by means of the HAE-QoL questionnaire and the need for access to Emergency Room for infusion of Berinert®. Patients' medical history data were collected upon the first visit and questionnaires were filled after each attack treated with Berinert® (diary and Treatment Satisfaction Questionnaire for Medication) and upon the first visit and the follow-ups (HAE-QoL).
Twenty patients were enrolled (median age = 42, IQR: 39-49; 60% females). Fifteen patients completed the study. A total of 189 attacks were recorded (annual median rate of 4 attacks/patient). Patients waited a median of 2 h (IQR: 1-4) before self-administration, and the resolution of the attack occurred after a median of 6 h (IQR: 4-11). Most attacks were abdominal (39%) and peripheral (22%). 92% of the attacks were treated through self-/caregiver-administration. In most attacks no side effects were reported. The number of attacks with side effects decreased over time, from 37% to 13%. Global satisfaction grew over time during the study period, reaching statistical significance over the first 6 months. The median total HAE-QoL score at baseline was 86 (IQR: 76-103) and improved in a non-significant manner throughout the study period. 8% of the attacks treated with Berinert® required ER admission/healthcare professional help in the study period, compared with 100% in the 3 years before enrollment (p < 0.0001).
Self-administration of pnf C1-INH is safe, and increases patients' confidence in the treatment, showing also a trend towards an improvement in QoL. It reduces the need for ER admission/healthcare professionals help for the acute attacks, as well as the related costs.
C1 抑制剂缺陷遗传性血管性水肿是一种致残性、潜在致命性疾病，其特征是反复发作的肿胀。建议自我治疗，以减少到急诊室就诊的次数，以及发病和治疗之间的时间，从而获得更好的治疗效果和更高的生活质量（QoL）。本研究旨在评估自我施用 pnf C1-INH 进行 IV 治疗（Berinert®）的安全性、耐受性和对 QoL 的影响。
设计了一项观察性、单中心、前瞻性研究。2014 年 3 月至 2015 年 7 月期间，参加血管性水肿中心两次自我输注培训课程的患者被纳入研究。主要终点是监测 pnf C1-INH 自我输注的安全性和可行性。次要终点是通过 HAE-QoL 问卷和 Berinert®输注对急诊室就诊的需求评估自我输注对 QoL 的影响。患者的医疗史数据在首次就诊时收集，在每次用 Berinert®治疗（日记和药物治疗满意度问卷）后以及首次就诊和随访（HAE-QoL）时填写问卷。
共纳入 20 名患者（中位年龄 42 岁，IQR：39-49；60%女性）。15 名患者完成了研究。共记录了 189 次发作（每名患者年均发作 4 次）。患者在自我给药前等待中位时间为 2 小时（IQR：1-4），发作缓解中位时间为 6 小时（IQR：4-11）。大多数发作为腹部（39%）和外周（22%）。92%的发作通过自我/护理人员给药治疗。大多数发作无副作用。随着时间的推移，有副作用的发作次数减少，从 37%降至 13%。在研究期间，全球满意度随着时间的推移而增长，在最初的 6 个月达到统计学意义。基线时的总 HAE-QoL 评分中位数为 86（IQR：76-103），整个研究期间无显著改善。在研究期间，接受 Berinert®治疗的 8%的发作需要急诊室就诊/医护人员帮助，而在入组前 3 年则为 100%（p<0.0001）。
自我施用 pnf C1-INH 是安全的，并且增加了患者对治疗的信心，同时也显示了 QoL 改善的趋势。它减少了对急性发作的急诊室就诊/医护人员帮助的需求，以及相关费用。
