Clinical manifestations, diagnosis, and treatment of hereditary angioedema: survey data from 94 physicians in Japan
Clinical manifestations, diagnosis, and treatment of hereditary angioedema: survey data from 94 physicians in Japan
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DOI：
10.1016/j.anai.2015.03.010
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发表时间：
2015-06-01
影响因子：
5.9
通讯作者：
Tomino, Yasuhiko
中科院分区：
文献类型：
--
作者：
Ohsawa, Isao;Honda, Daisuke;Tomino, Yasuhiko
背景：遗传性血管性水肿（HAE）是一种罕见且可能危及生命的疾病，由C1抑制剂（C1- inh）突变引起。日本医生对HAE的认识正在提高，但缺乏真实数据。目的：探讨日本HAE患者的临床表现、诊断、生活质量（QOL）及治疗。方法：2014年3月至5月，对日本387名医生进行了一项14点调查，收集HAE患者的家族史、发作的严重程度和频率、生活质量和治疗使用等临床数据。结果：从94名医生收集了171例HAE患者的数据（24.3%的有效率）。76.6%的患者有血管性水肿（AE）家族史，11.7%的患者有因AE发作而死亡的家族史。1型HAE发生在99例（57.9%），2型HAE发生在9例（5.3%），C1-INH正常的HAE发生在3例（1.8%），另外60例患者未分类。从最初症状到诊断的平均时间为13.8年。9.5%和2.9%的患者分别出现需要气道管理和腹部手术但诊断不确定的发作。在过去一年中，21.0%的患者发作次数超过10次，21.1%的患者住院时间超过1天，28.7%的患者旷工或缺课。大约一半的患者使用按需C1-INH浓缩物和预防性氨甲环酸（分别为47.4%和39.2%）。结论：HAE是一种以反复发作AE为特征的严重疾病。在日本，患者诊断的延迟和HAE特异性治疗的有限使用加重了HAE患者的负担。(C) 2015年美国过敏、哮喘与免疫学学会。Elsevier Inc.出版。版权所有。
Background: Hereditary angioedema (HAE) is a rare and potentially life-threatening condition that results from mutations in the C1 inhibitor (C1-INH). Awareness of HAE among physicians in Japan is increasing, but real-world data are lacking.Objective: To explore the clinical manifestations, diagnosis, quality of life (QOL), and treatment of Japanese patients with HAE.Methods: A 14-point survey was developed and sent to 387 physicians in Japan (March to May 2014) to gather clinical data on their HAE patients' family history, severity and frequency of attacks, QOL, and therapy use.Results: Data on 171 HAE patients were collected from 94 physicians (24.3% response rate). Of the patients, 76.6% had a family history of angioedema (AE), and 11.7% had experienced a death in the family due to an AE attack. HAE type I occurred in 99 patients (57.9%), HAE type II occurred in 9 patients (5.3%), HAE with normal C1-INH occurred in 3 patients (1.8%), and an additional 60 patients were unclassified. Mean time from initial symptoms to diagnosis was 13.8 years. Attacks that required airway management and abdominal surgery with uncertain diagnosis were observed in 9.5% and 2.9% of patients, respectively. In the past year, 21.0% of patients presented with more than 10 attacks, 21.1% were admitted to the hospital for more than 1 day, and 28.7% were absent from work or school. On-demand C1-INH concentrate and prophylactic tranexamic acid were used in approximately half of the patients (47.4% and 39.2%, respectively).Conclusion: HAE is a severe condition characterized by recurrent AE attacks. In Japan, delayed patient diagnosis and limited use of HAE-specific therapies exacerbate the burden on HAE patients. (C) 2015 American College of Allergy, Asthma & Immunology. Published by Elsevier Inc. All rights reserved.