Department of Allergy & Clinical Immunology, Peking Union Medical College Hospital, Peking Union Medical College & Chinese Academy of Medical Sciences, National Clinical Research Center for Immunologic Diseases, #1 Shuaifuyuan, Wangfujing, Beijing, 100730, P.R. China.
School of Clinical Medicine, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, 100005, China.
Orphanet J Rare Dis. 2020 Sep 22;15(1):257. doi: 10.1186/s13023-020-01526-1.
Hereditary angioedema (HAE) is a rare disease with potential life-threatening risks. To study the natural course of HAE under therapy-free conditions throughout patient life is essential for practitioners and patients to avoid possible risk factors and guide treatment.
Describe the natural course of HAE and explore possible risk factors, providing new clues for guiding clinical prevention and treatment.
A web-based survey was conducted in 103 Chinese patients with type 1 HAE. Disease progression at different age stages was provided by each participant. The data for exploring the natural course of HAE composed of two parts: one came from the participants who had never adopted any prophylactic drug for HAE; the other was from the patients with a history of medication, but only the periods before they got confirmed diagnosis and received medications were analyzed. The demographic characteristics, lifestyles, disease severity, and family history were also collected.
Among 103 patients, 14 (13.6%) had their first HAE attack before 10 years old and 51 (49.5%) between 10 and 19. The disease worsened in 83.3% of the patients in their twenties. The proportion of patients with symptoms alleviated increased after the age of 30 years old, but the disease maintained relatively severe in most cases before 50. The participants also reported 233 members shared similar symptoms of angioedema in their family and 30 had died of laryngeal edema with the median death age of 46 years old. The disease severity was not observed to be affected significantly by gender, BMI, alcohol or smoking.
We summarized HAE progression patterns under therapy-free conditions, showing the natural course of HAE development along with aging. Long-term prophylaxis and symptomatic treatment are recommended for all HAE patients, especially young and middle-aged and might be adjusted depending on the disease progression.
遗传性血管性水肿（HAE）是一种罕见的疾病，具有潜在的危及生命的风险。在无治疗条件下研究 HAE 在患者整个生命过程中的自然病程，对于医生和患者避免可能的风险因素和指导治疗至关重要。
描述 HAE 的自然病程，并探讨可能的风险因素，为指导临床预防和治疗提供新的线索。
对 103 例 1 型 HAE 中国患者进行了一项基于网络的调查。每位参与者提供了其在不同年龄阶段疾病进展的情况。HAE 自然病程的数据由两部分组成：一部分来自从未接受过任何 HAE 预防性药物的参与者；另一部分来自有用药史的患者，但仅分析其确诊前和用药期间的时间段。还收集了人口统计学特征、生活方式、疾病严重程度和家族史等数据。
在 103 例患者中，14 例（13.6%）在 10 岁之前首次发生 HAE 发作，51 例（49.5%）在 10-19 岁之间。83.3%的患者在 20 多岁时病情恶化。30 岁以后症状缓解的患者比例增加，但在 50 岁之前，大多数患者的病情仍较为严重。参与者还报告了 233 名有类似血管性水肿症状的家族成员，30 人因喉头水肿死亡，中位死亡年龄为 46 岁。未观察到性别、BMI、酒精或吸烟对疾病严重程度有显著影响。
我们总结了无治疗条件下 HAE 的进展模式，显示了 HAE 随年龄增长的自然病程。建议所有 HAE 患者进行长期预防和对症治疗，特别是年轻和中年患者，可根据疾病进展情况进行调整。
