Giavina-Bianchi Pedro, Giavina-Bianchi Mara, Oliveira Martins Raquel de, Cristina Fortunato Maria, Guersoni Ana Claudia
Clinical Immunology and Allergy Division, University of São Paulo School of Medicine, Brazil.
Hospital Israelita Albert Einstein, São Paulo, Brazil.
World Allergy Organ J. 2024 Nov 7;17(11):100992. doi: 10.1016/j.waojou.2024.100992. eCollection 2024 Nov.
Hereditary angioedema (HAE) is a rare genetic disease characterized by recurrent, potentially life-threatening angioedema episodes. Despite its severity, including the risk of asphyxiation, HAE often remains underdiagnosed. The disease significantly impacts patient quality of life (QoL), leading to anxiety, depression, and avoidance behaviors due to the unpredictable nature of attacks. Understanding the perspectives of patients is crucial for identifying unmet needs in managing this complex condition.
This study aimed to gather real-world insights from Brazilian patients with C1 inhibitor deficiency HAE to identify their unmet needs and assess their perceptions of the effectiveness of current care in preventing and treating HAE attacks.
A cross-sectional study utilized a SurveyMonkey questionnaire distributed to HAE patients through ABRANGHE via email. Participants provided informed consent, and their responses were anonymous. The questionnaire, developed with input from experts and patients, covered aspects of HAE diagnosis, treatment experiences, and QoL assessments.
The survey included 178 HAE patients, predominantly female (81%), aged 30-50 years (58%), and college-educated (62%). The most common HAE defect was C1-INH deficiency (53%), followed by HAE-nC1INH (23%), with nearly a quarter unaware of their specific defect. Diagnosis delays were prevalent, with a significant number reporting 13-50 attacks annually (33%) and 15% experiencing more than 50 attacks per year. Laryngeal involvement was reported by 26% of respondents. Most patients (69%) attended regular follow-ups, with 72% on prophylactic treatment and 67% managing acute attacks. The most used acute treatment was Icatibant (49%), followed by pdC1INH (24%). However, confusion regarding medication use persisted, with 45% incorrectly believing that oral medications could effectively treat attacks. Key unmet needs identified included improved access to emergency rooms during attacks (73%), better availability of prophylactic treatment (69%), and enhanced access to specialized care (63%). Patients also emphasized the need for psychological support, increased awareness of HAE, and educational initiatives for patients and healthcare providers.
This study highlighted significant challenges in HAE management among Brazilian patients, particularly concerning delayed diagnosis, misconceptions about treatment, and inadequate access to specialized care and prophylactic treatments. The high frequency of emergency room visits underscores the difficulties in managing the disease. The substantial burden of HAE on QoL emphasizes the urgent need for improved physician education, streamlined diagnostic processes, and equitable access to effective medications and specialized care facilities Addressing these gaps is crucial to better support HAE patients, improve diagnostic timeliness, enhance treatment efficacy, and ultimately enhance the overall quality of life for individuals living with HAE.
遗传性血管性水肿（HAE）是一种罕见的遗传性疾病，其特征为反复发作、可能危及生命的血管性水肿发作。尽管病情严重，包括有窒息风险，但HAE常常仍未得到充分诊断。该疾病对患者生活质量（QoL）有显著影响，由于发作的不可预测性，导致焦虑、抑郁和回避行为。了解患者的观点对于确定管理这种复杂病症中未满足的需求至关重要。
本研究旨在收集巴西C1抑制剂缺乏型HAE患者的真实见解，以确定他们未满足的需求，并评估他们对当前预防和治疗HAE发作的护理效果的看法。
一项横断面研究使用通过电子邮件通过ABRANGHE分发给HAE患者的SurveyMonkey问卷。参与者提供了知情同意书，他们的回答是匿名的。该问卷在专家和患者的参与下制定，涵盖了HAE诊断、治疗经历和QoL评估等方面。
该调查包括178名HAE患者，主要为女性（81%），年龄在30至50岁之间（58%），受过大学教育（62%）。最常见的HAE缺陷是C1-INH缺乏（53%），其次是HAE-nC1INH（23%），近四分之一的人不知道自己的具体缺陷。诊断延迟很普遍，相当一部分人报告每年发作13至50次（33%），15%的人每年发作超过50次。26%的受访者报告有喉部受累。大多数患者（
