Hereditary angioedema (HAE) is a rare disease characterized by unpredictable, potentially life-threatening attacks, resulting in significant physical and emotional burdens for patients and families. To optimize care for patients with HAE, an individualized management plan should be considered in partnership with the physician, requiring comprehensive assessment of the patient’s frequency and severity of attacks, disease burden, and therapeutic control. Although several guidelines and consensus papers have been published concerning the diagnosis and treatment of HAE, there has been limited specific clinical guidance on the assessment of disease burden and quality of life (QoL) in this patient population. Practical guidance is critical in supporting effective long-term clinical management of HAE and improving patient outcomes. The objective of this review is to provide evidence-based guidelines for an individualized assessment of disease burden and QoL in patients with HAE. A consensus meeting was held on February 29, 2020, consisting of 9 HAE experts from the United States and Europe with extensive clinical experience in the treatment of HAE. Consensus statements were developed based on a preliminary literature review and discussions from the consensus meeting. Final statements reflect the consensus of the expert panel and include the assessment of attack severity, evaluation of disease burden, and long-term clinical management of HAE caused by C1-esterase inhibitor deficiency. Patient-reported outcome measures for assessing HAE attack severity and frequency are available and valuable tools; however, attack frequency and severity are insufficient markers of disease severity unless they are evaluated in the broader context of the effect on an individual patient’s QoL. QoL assessments should be individualized for each patient and minimally, they should address the interference of HAE with work, school, social, family, and physical activity, along with access to and burden of HAE treatment. Advances in HAE therapies offer the opportunity for comprehensive, individualized treatment plans, allowing patients to achieve minimal attack burden with reduced disease and treatment burden. This consensus report builds on existing guidelines by expanding the assessment of disease burden and QoL measures for patients with HAE.

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遗传性血管性水肿患者疾病负担和生活质量的评估和管理：共识报告

遗传性血管性水肿（HAE）是一种罕见疾病，其特征在于不可预测的，可能威胁生命的发作，从而给患者和家庭带来巨大的身心负担。为了优化对HAE患者的护理，应与医师合作考虑制定个性化的管理计划，要求对患者的发作频率和发作严重程度，疾病负担和治疗控制进行全面评估。尽管已经发表了一些有关HAE诊断和治疗的指南和共识性文件，但是在评估该患者人群的疾病负担和生活质量（QoL）方面，仅有有限的具体临床指导。实践指导对于支持HAE的有效长期临床管理和改善患者预后至关重要。这篇综述的目的是为HAE患者的疾病负担和生活质量的个性化评估提供循证指南。2020年2月29日举行了共识会议，由来自美国和欧洲的9位HAE专家组成，他们在HAE的治疗方面拥有丰富的临床经验。共识声明是根据初步的文献回顾和共识会议的讨论而制定的。最终声明反映了专家组的共识，包括对发作严重程度的评估，疾病负担的评估以及由C1酯酶抑制剂缺乏引起的HAE的长期临床管理。有患者报告的评估HAE发作严重程度和频率的结果指标，并且是有价值的工具；然而，除非在更广泛的范围内评估对个体患者的QoL的影响，否则发作频率和严重程度不足以作为疾病严重程度的标志。QoL评估应针对每位患者进行个性化评估，并且至少应解决HAE对工作，学校，社会，家庭和身体活动的干扰以及获得HAE治疗和负担的问题。HAE疗法的进步为全面，个性化的治疗计划提供了机会，使患者可以将发作负担降到最低，同时减少疾病和治疗负担。这份共识报告以现有指南为基础，扩大了对HAE患者的疾病负担评估和QoL措施。QoL评估应针对每位患者进行个性化评估，并且至少应解决HAE对工作，学校，社会，家庭和身体活动的干扰以及获得HAE治疗和负担的问题。HAE疗法的进步为全面，个性化的治疗计划提供了机会，使患者可以将发作负担降到最低，同时减少疾病和治疗负担。这份共识报告以现有指南为基础，扩大了对HAE患者的疾病负担评估和QoL措施。QoL评估应针对每位患者进行个性化评估，并且至少应解决HAE对工作，学校，社会，家庭和身体活动的干扰以及获得HAE治疗和负担的问题。HAE疗法的进步为全面，个性化的治疗计划提供了机会，使患者可以将发作负担降到最低，同时减少疾病和治疗负担。这份共识报告以现有指南为基础，扩大了对HAE患者的疾病负担评估和QoL措施。使患者获得最小的发作负担，同时减少疾病和治疗负担。这份共识报告以现有指南为基础，扩大了对HAE患者的疾病负担评估和QoL措施。使患者获得最小的发作负担，同时减少疾病和治疗负担。这份共识报告以现有指南为基础，扩大了对HAE患者的疾病负担评估和QoL措施。