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. 2024 May 21;19(1):210.
doi: 10.1186/s13023-024-03182-1.

Hereditary angioedema in Spain: medical care and patient journey

Teresa Caballero  1   2   3 , Carmen Alonso  4 , María Luisa Baeza  5   6 , Krasimira Baynova  7 , José Cabeza  8 , Isabel Cortés  9 , Danilo Escobar Oblitas  10   11 , Mar Guilarte  12 , Alejandro Joral  13 , Jesús Jurado Palomo  14 , María Ángeles Lara Jiménez  15 , Ana Martínez Virto  16 , Laura Medrano  17 , Emilio Monte Boquet  18 , Montserrat Navarro  19 , Diego Pérez  20 , María José Plá Martí  21 , Sara L Smith Foltz  17 , Coral Suero  22 , Carolina Zamora  17
Affiliations

Hereditary angioedema in Spain: medical care and patient journey

Teresa Caballero et al. Orphanet J Rare Dis. .

Abstract

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.

Keywords: Acute attacks; Hereditary angioedema; Long-term prophylaxis; Patient journey; Quality of life; Recommendations; Short-term prophylaxis.

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Conflict of interest statement

TC has the following conflict of interests: receipt of grants/research supports or participation in educational activities, research projects, scientific meetings (either attendance, speaking and/or delivering presentations) and advisory boards sponsored by AEDAF, Astria, BioCryst, CSL Behring, IONIS, Kalvista, Novartis, Octapharma, Pharming, Pharvaris and Takeda; and is a researcher from the IdiPAZ program for promoting research activities. MLB has the following conflict of interests: receipt of grants/research supports or participation in educational activities, research projects, scientific meetings (either attendance, speaking and/or delivering presentations) and advisory boards sponsored by CSL Behring, Novartis, Leti, Takeda, BioCryst and Pharming NV. KB has the following conflict of interests: receipt of grants/research supports or participation in educational activities, research projects, scientific meetings (either attendance, speaking and/or delivering presentations) and advisory boards sponsored by CSL Behring, Takeda, Pharming and BioCryst. MG has the following conflict of interests: receipt of grants/research supports or participation in educational activities, research projects, scientific meetings (either attendance, speaking and/or delivering presentations) and advisory boards sponsored by BioCryst, CSL Behring, Novartis, Pharming, Pharvaris and Takeda; and is a researcher from the VHIR program for promoting research activities. JJP has the following conflict of interests: participation in educational activities, research projects, scientific meetings (either attendance, speaking and/or delivering presentations) and advisory boards sponsored by CSL Behring. MALJ has the following conflict of interests: receipt of grants/research supports or participation in educational activities, research projects, scientific meetings (either attendance, speaking and/or delivering presentations) and advisory boards sponsored by GSK, Novartis, Behring, Takeda, Leti, Diater, Sanofi, ALK, Stallergenes, Bial, Allergy Therapeutics. AMV has the following conflict of interest: receipt of grants/research supports or participation in educational activities, research projects, scientific meetings (either attendance, speaking and/or delivering presentations) and advisory boards sponsored by CSL Behring and Takeda. LM has the following conflict of interests: participation in research projects from Tab Healthcare Research. EMB has the following conflict of interests: receipt of grants/research supports or participation in educational activities, research projects, scientific meetings (either attendance, speaking and/or delivering presentations) and advisory boards sponsored by Abbott/Abbvie, Amgen, Astellas, Astra Zeneca, Baxalta, Bayer, Biogen, Boehringer Ingelheim, Bristol-Myers Squibb, Celgene, Chiesi, CSL Behring, Eisai, Fresenius, Gilead, GSK, Ipsen, Janssen, Leo Pharma, Lilly, MSD, Merck-Serono, Novartis, Pfizer, Roche, Sanofi, Shire, Takeda, Theramex, UCB and ViiV. DP has the following conflict of interests: participation in research projects by CSL Behring. MJPM has the following conflict of interests: participation in educational activities, research projects, scientific meetings (either attendance, speaking and/or delivering presentations) and advisory boards sponsored by CSL Behring, GSK, AstraZeneca, Takeda, Allergy Therapeutics, Roxall, LETI. IC is employed by CSL Behring. CA, JC, ADE, AJ, SLSF, MN, CS and CZ declare that they have no competing interests.

Figures

Fig. 1
Fig. 1
Patient journey: Pre-diagnostic phase. AE: angioedema; ICU: intensive care unit
Fig. 2
Fig. 2
Patient journey: Diagnostic phase. C1q: complement component C1q; C4: complement component 4; C1INHf: C1-inhibitor function; C1INHc: C1-inhibitor concentration
Fig. 3
Fig. 3
Patient journey: Treatment phase. LTP: long-term prophylaxis; SC: subcutaneous; IV: intravenous; pdC1INH: plasma-derived C1-inhibitor concentrate
Fig. 4
Fig. 4
Patient journey: On-demand treatment phase. PC: primary care; URT: upper respiratory tract; ICU: intensive care unit; ENT: Ear, Nose and Throat
See this image and copyright information in PMC

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