Lotus Life Clinic, Targu Mures, George Emil Palade University of Medicine, Pharmacy, Science, and Technology of Targu Mures, Romania.
Iran J Immunol. 2020 Sep;17(3):226-235. doi: 10.22034/iji.2020.85416.1709.
Hereditary angioedema (HAE) is a rare genetic potentially life-threatening disease characterized by episodic non-pruritic subcutaneous and submucosal edema attacks in different parts of the body.
To assess the status of Romanian HAE patients after the recent introduction of a new therapy through a nationwide program.
This cross-sectional observational study included patients from the Romanian HAE Registry.
The study included 84 patients with HAE type I (91.7%) and type II (8.3%). The mean delay in diagnosis was 2.4 years in children and 16.7 years in adults (p=0.019). Stress and tiredness were the most frequent trigger factors. The majority of the HAE episodes involved subcutaneous (89.3%), abdominal (77.4%), genital (51.2%), facial (41.7%), and laryngeal (39.3%) symptoms during the preceding 12 months. One or several misdiagnoses were reported in 83.33% patients and 44.1 % of the patients were subjected to or proposed unnecessary surgery during abdominal episodes. Plasma-derived C1-INH (pdC1-INH) and recombinant C1-INH (rhC1-INH) were respectively used in 10 (11.9%) and 13 (15.5%) of the HAE patients for life-threatening attacks over the past 12 months. Forty-three (51.19%) patients practiced home treatment with subcutaneous injection of the bradykinin B2-receptor antagonist for acute HAE attacks.
The significantly lower delay observed in children suggests an improvement in the awareness of C1-INH-HAE among physicians in recent years. The management of HAE in Romania has been somewhat enhanced as the majority of HAE patients have recently gained access to pdC1-INH, rhC1-INH, and bradykinin B2-receptor antagonist.
遗传性血管性水肿（HAE）是一种罕见的遗传性、潜在致命性疾病，其特征为身体不同部位反复发作无瘙痒的皮下和黏膜下水肿。
通过全国性计划评估新疗法引入后罗马尼亚 HAE 患者的现状。
本横断面观察性研究纳入了罗马尼亚 HAE 登记处的患者。
研究纳入了 84 例 HAE 1 型（91.7%）和 2 型（8.3%）患者。儿童诊断延迟的平均时间为 2.4 年，成人则为 16.7 年（p=0.019）。压力和疲劳是最常见的触发因素。在过去 12 个月中，大多数 HAE 发作涉及皮下（89.3%）、腹部（77.4%）、生殖器（51.2%）、面部（41.7%）和喉部（39.3%）症状。83.33%的患者报告存在一次或多次误诊，44.1%的患者在腹部发作期间接受或被提议进行不必要的手术。过去 12 个月中，有 10（11.9%）例和 13（15.5%）例 HAE 患者分别使用血浆衍生 C1-INH（pdC1-INH）和重组 C1-INH（rhC1-INH）治疗危及生命的发作。43（51.19%）例患者在家中进行治疗，使用皮下注射缓激肽 B2 受体拮抗剂治疗急性 HAE 发作。
儿童中观察到的显著延迟缩短表明近年来医生对 C1-INH-HAE 的认识有所提高。由于大多数 HAE 患者最近获得了 pdC1-INH、rhC1-INH 和缓激肽 B2 受体拮抗剂，罗马尼亚的 HAE 管理已得到一定程度的改善。
