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Hereditary angioedema in Spain: medical care and patient journey
Teresa Caballero1,2,3, Carmen Alonso4, María Luisa Baeza5,6
1Allergy department, Hospital Universitario La Paz, Madrid, Spain. mteresa.caballero@ciberer.es.
Insights
Understanding the hereditary angioedema (HAE) patient journey in Spain reveals key areas for improving diagnosis and treatment. Enhancing healthcare professional awareness and ensuring equitable access to self-administered therapies are crucial for better HAE management.
Area of Science:
- Rare diseases
- Genetics
- Immunology
Background:
- Hereditary angioedema due to C1 inhibitor deficiency (HAE-C1INH) is a rare genetic disorder causing recurrent swelling episodes.
- The unpredictable nature of HAE significantly impacts patients' quality of life.
Purpose of the Study:
- To elucidate the patient journey for Hereditary Angioedema (HAE) in Spain.
- To identify areas for improvement in HAE diagnosis and management.
Main Methods:
- A multidisciplinary committee of 16 HAE experts and 3 patient association representatives was formed.
- Literature review on HAE treatment was conducted.
- Semi-structured interviews with experts, patients, and caregivers were performed, followed by consensus meetings.
Main Results:
- The patient journey was mapped into pre-diagnosis, diagnosis, and treatment/follow-up stages.
- Identified needs include enhanced healthcare professional training, reduced referral times, and proactive family screening.
- Recommendations include equitable access to self-administered and prophylactic treatments, standardized guidelines, and further research.
Conclusions:
- Mapping the HAE patient journey provides critical insights for optimizing disease management.
- Addressing identified areas will lead to improved patient outcomes and quality of life.
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.
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