Department of Dermatology, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima, Japan; HAEJ Registered NPO, Japan; Iwamoto Dermatology & Allergology Clinic, Hiroshima, Japan.
HAEJ Registered NPO, Japan; Graduate School of Human Sciences, Osaka University, Osaka, Japan; HAEi, Registered Charity, USA.
Allergol Int. 2021 Apr;70(2):235-243. doi: 10.1016/j.alit.2020.09.008. Epub 2020 Nov 6.
The rate at which patients are accurately diagnosed with hereditary angioedema (HAE), as well as diagnosed patients access to modern treatments differs greatly among countries. Moreover, the severity and burden of HAE on patients have been reported mostly on the basis of physician-reported surveys. To gain insight into the real-world conditions of patients with HAE through a patient-reported survey in Japan and identify any unmet needs.
A questionnaire was distributed to 121 patients with HAE via a Japanese HAE patient organization during 2016-2017. Responses were collected from 70 patients (57.9%) and subjected to analysis.
The average periods from the initial appearance of symptoms (e.g. edema) to a HAE diagnosis was 15.6 years (min-max, 0-53). Patients visited an average of 4.6 different departments until receiving a definitive diagnosis. The average age at the first visit was 25.6 years (3-73) and at diagnosis 32.8 years (0-73). Patients reported an average of 15.7 (0-100) attacks per year, but only 53.1% of attacks were treated. The days of hospitalization due to severe attacks was 14.3 (0-200) before diagnosis, but these declined to 4.3 (0-50) after diagnosis. In the treatment for attacks, 82% of the patients were treated with the plasma-derived C1 inhibitor concentrate, and 69% of the patients reported experiencing a therapeutic effect.
There is a long gap between first attack and diagnosis of HAE, and the number of non-treated attacks is high in Japan. Steps are needed to improve the diagnostic and treatment environments to address these issues.
在不同国家，患者被准确诊断为遗传性血管性水肿（HAE）的比例以及确诊患者获得现代治疗的机会存在很大差异。此外，HAE 对患者的严重程度和负担主要基于医生报告的调查。为了通过在日本进行的患者报告调查深入了解 HAE 患者的实际情况，并确定任何未满足的需求。
2016 年至 2017 年，通过日本 HAE 患者组织向 121 名 HAE 患者分发了问卷。共收到 70 名患者（57.9%）的回复并进行了分析。
从症状（如水肿）首次出现到 HAE 确诊的平均时间为 15.6 年（最短 0 年，最长 53 年）。患者平均就诊 4.6 个不同科室才得到明确诊断。首次就诊的平均年龄为 25.6 岁（3-73 岁），确诊时为 32.8 岁（0-73 岁）。患者报告平均每年发作 15.7 次（0-100 次），但只有 53.1%的发作得到治疗。确诊前因重度发作住院的天数为 14.3 天（0-200 天），而确诊后则降至 4.3 天（0-50 天）。在治疗发作时，82%的患者使用了血浆源性 C1 抑制剂浓缩物，69%的患者报告有治疗效果。
日本 HAE 患者从首次发作到确诊之间存在很长的时间间隔，且未治疗的发作次数较多。需要采取措施改善诊断和治疗环境，以解决这些问题。
