Bygum Anette, Busse Paula, Caballero Teresa, Maurer Marcus
HAE Centre Denmark, Department of Dermatology and Allergy Centre, Odense University Hospital, Odense, Denmark.
Icahn School of Medicine at Mount Sinai, New York, NY, United States.
Front Med (Lausanne). 2017 Dec 4;4:212. doi: 10.3389/fmed.2017.00212. eCollection 2017.
Hereditary angioedema (HAE) is a group of rare, potentially life-threatening, and frequently debilitating diseases characterized by recurrent, and often with an unpredictable onset, of swelling attacks. HAE is heterogeneous, with considerable differences between its subtypes, patients, and even within the same patient over time. During the past few years, several new on demand and prophylactic therapies have become available for HAE, allowing for individualized treatment. Therefore, to optimize HAE management, it is important to determine in all patients, the severity of their attacks, their disease activity, its therapeutic control, and its impact on their quality of life. In this manuscript, we review the existing tools to assess these aspects of HAE management, many of which are patient-reported outcome instruments. Also, we outline the current gaps of knowledge and what tools are still missing to allow for a comprehensive assessment of all patients with HAE including children.
遗传性血管性水肿（HAE）是一组罕见的、潜在危及生命且常使人衰弱的疾病，其特征为肿胀发作反复出现且发作时间往往不可预测。HAE具有异质性，其亚型之间、患者之间甚至同一患者在不同时间都存在相当大的差异。在过去几年中，有几种新的按需治疗和预防性治疗方法可用于HAE，从而实现个体化治疗。因此，为了优化HAE的管理，在所有患者中确定其发作的严重程度、疾病活动度、治疗控制情况及其对生活质量的影响非常重要。在本手稿中，我们回顾了评估HAE管理这些方面的现有工具，其中许多是患者报告的结局工具。此外，我们概述了当前知识的空白以及仍缺少哪些工具，以便对包括儿童在内的所有HAE患者进行全面评估。
