Bork Konrad, Anderson John T, Caballero Teresa, Craig Timothy, Johnston Douglas T, Li H Henry, Longhurst Hilary J, Radojicic Cristine, Riedl Marc A
Department of Dermatology, University Medical Center, Johannes Gutenberg University, Langenbeckstraße 1, 55131, Mainz, Germany.
Clinical Research Center of Alabama, 504 Brookwood Boulevard, Suite 250, Birmingham, AL, 35209, USA.
Allergy Asthma Clin Immunol. 2021 Apr 19;17(1):40. doi: 10.1186/s13223-021-00537-2.
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.
遗传性血管性水肿（HAE）是一种罕见疾病，其特征为不可预测的、可能危及生命的发作，给患者及其家庭带来巨大的身心负担。为了优化对HAE患者的治疗，应与医生合作制定个性化管理计划，这需要全面评估患者发作的频率和严重程度、疾病负担以及治疗控制情况。尽管已经发表了多篇关于HAE诊断和治疗的指南及共识文件，但针对该患者群体疾病负担和生活质量（QoL）评估的具体临床指导仍然有限。实用指南对于支持HAE的有效长期临床管理和改善患者预后至关重要。本综述的目的是为HAE患者疾病负担和QoL的个体化评估提供循证指南。
2020年2月29日召开了一次共识会议，参会人员包括9位来自美国和欧洲、在HAE治疗方面具有丰富临床经验的专家。基于初步文献综述和共识会议讨论制定了共识声明。
最终声明反映了专家小组的共识，包括发作严重程度评估、疾病负担评估以及由C1酯酶抑制剂缺乏引起的HAE的长期临床管理。用于评估HAE发作严重程度和频率的患者报告结局指标是可用且有价值的工具；然而，发作频率和严重程度不足以作为疾病严重程度的指标，除非在对个体患者QoL影响的更广泛背景下进行评估。QoL评估应针对每位患者进行个体化，至少应涉及HAE对工作、学校、社交、家庭和体育活动的干扰，以及HAE治疗的可及性和负担。HAE治疗的进展为制定全面、个体化的治疗计划提供了机会，使患者能够以减轻疾病和治疗负担的方式实现最小发作负担。
本共识报告在现有指南的基础上，扩展了对HAE患者疾病负担和QoL指标的评估。
