背景:C1抑制剂缺乏症引起的遗传性血管性水肿(HAE-C1INH)是一种遗传性罕见疾病,其特征是复发性,短暂和不可预测的寒冷发作,非瘙痒性水肿,无相关荨麻疹。该疾病的特点对患者的生活质量有相当大的影响。这项研究的目的是增加对西班牙HAE患者旅程的了解。
方法:由16位HAE专家组成的多学科委员会(过敏,免疫学,急诊科,医院药学和护理)和西班牙遗传性血管性水肿患者协会(AEDAF)的3名患者或护理人员的代表参加了研究。对有关HAE治疗的出版物进行了综述。对HAE专家进行了半结构化访谈,病人,或看护者。与专家举行了三次会议,患者和护理人员被要求分享,讨论,并验证从文献和访谈中获得的数据,并建立模型。
结果:在整个项目中,病人的旅程已经制定,将其分为预诊断阶段,诊断和治疗/随访。已经确定了一些需要改进的地方。首先,有必要提高医疗保健专业人员对HAE的认识和培训,特别强调初级保健和急诊科人员。其次,应尽量减少患者转诊给过敏/免疫学专家的时间,确保及时获得适当的护理。第三,鼓励对确诊患者亲属的研究尽早发现潜在病例是至关重要的。第四,应确保公平获得自我管理的治疗,通过能够在家中提供药物以及对患者进行适当教育和培训的系统来促进。对于所有有需要的患者,也应优先考虑公平获得长期预防性治疗。为了规范HAE管理,制定减少临床实践变异性的共识指南至关重要.最后,应鼓励促进研究,以增强对这种疾病的认识,并使其治疗与医疗保健领域的新发展保持一致。
结论:对HAE患者旅程的了解使我们能够确定改善领域,最终目的是优化疾病管理。
BACKGROUND: Hereditary angioedema due to C1 inhibitor deficiency (HAE-C1INH) is a genetic rare disease characterized by recurrent, transient and unpredictable episodes of cold, non-pruriginous oedema without associated urticaria. The characteristics of the disease have a considerable impact on the quality of life of patients. The aim of this study was to increase understanding of the patient journey of HAE in Spain.
METHODS: A multidisciplinary committee of 16 HAE experts (allergy, immunology, emergency department, hospital pharmacy and nursing) and 3 representatives of the Spanish Hereditary Angioedema Patient Association (AEDAF) who were patients or caregivers participated in the study. A review of the publications on HAE treatment was performed. Semi-structured interviews were performed to HAE experts, patients, or caregivers. Three meetings with the experts, patients and caregivers were held to share, discuss, and validate data obtained from literature and interviews and to build the model.
RESULTS: Throughout the project, the patient journey has been drawn up, dividing it into the stages of pre-diagnosis, diagnosis and treatment/follow-up. Some areas for improvement have been identified. Firstly, there is a need to enhance awareness and training on HAE among healthcare professionals, with a particular emphasis on primary care and emergency department personnel. Secondly, efforts should be made to minimize patient referral times to allergy/immunology specialists, ensuring timely access to appropriate care. Thirdly, it is crucial to encourage the study of the relatives of diagnosed patients to early identify potential cases. Fourthly, equitable access to self-administered treatments should be ensured, facilitated by systems that enable medication delivery at home and proper education and training for patients. Equitable access to long-term prophylactic treatment should also be prioritized for all patients in need. To standardize HAE management, the development of consensus guidelines that reduce variability in clinical practice is essential. Lastly, promoting research studies to enhance knowledge of the disease and align its treatment with new developments in the healthcare field should be encouraged.
CONCLUSIONS: The knowledge of the patient journey in HAE allowed us to identify improvement areas with the final aim to optimize the disease management.