dc.contributor
Institut Català de la Salut
dc.contributor
[Magerl M] Angioedema Center of Reference and Excellence (ACARE), Institute of Allergology, Charité–Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany. Fraunhofer Institute for Translational Medicine and Pharmacology ITMP, Allergology and Immunology, Berlin, Germany. [Riedl MA] Division of Allergy and Immunology, University of California—San Diego, La Jolla, Calif. [Arruda LK] Clinical Hospital of Ribeirão Preto Medical School, University of São Paulo, São Paulo, Brazil. [Bauer A] Department of Dermatology, University Allergy Center, University Hospital Carl Gustav Carus, Technical University Dresden, Dresden, Germany. [Berardi A] Instituto de Asma, Alergia y Enfermedades Respiratorias, Corrientes, Argentina. [Bernstein JA] University of Cincinnati College of Medicine, Division of Rheumatology, Allergy and Immunology and Bernstein Allergy Group and Clinical Research Center, Cincinnati, Ohio. [Guilarte M] Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Unitat d’Angioedema Hereditari, Servei d’Al·lergologia, Vall d’Hebron Hospital Universitari, Barcelona, Spain
dc.contributor
Vall d'Hebron Barcelona Hospital Campus
dc.contributor.author
Riedl, Marc
dc.contributor.author
Arruda, Luisa Karla
dc.contributor.author
Bauer, Andrea
dc.contributor.author
Berardi, Alejandro Miguel
dc.contributor.author
Bernstein, Jonathan
dc.contributor.author
Magerl, Markus
dc.contributor.author
Guilarte, Mar
dc.date.accessioned
2025-06-15T00:01:43Z
dc.date.available
2025-06-15T00:01:43Z
dc.date.issued
2025-05-30T12:34:22Z
dc.date.issued
2025-05-30T12:34:22Z
dc.identifier
Magerl M, Riedl MA, Arruda LK, Bauer A, Berardi A, Bernstein JA, et al. Global frequency, diagnosis, and treatment of hereditary angioedema with normal C1 inhibitor. J Allergy Clin Immunol Glob. 2025 Aug;4(3):100446.
dc.identifier
http://hdl.handle.net/11351/13179
dc.identifier
10.1016/j.jacig.2025.100446
dc.identifier
001475153900001
dc.identifier.uri
http://hdl.handle.net/11351/13179
dc.description.abstract
Hereditary angioedema; Diagnostics; Treatment
dc.description.abstract
Angioedema hereditario; Diagnóstico; Tratamiento
dc.description.abstract
Angioedema hereditari; Diagnòstic; Tractament
dc.description.abstract
Background: Hereditary angioedema (HAE) is a rare genetic disease, most frequently associated with deficiency or dysfunction in the C1 inhibitor protein. HAE with normal C1 inhibitor (HAE-nC1INH) lacks standardized diagnostic tests, limiting precise prevalence estimates and development of specific treatment guidelines.
Objective: This study sought to describe the global frequency, diagnostic pathway, and current treatment patterns of HAE-nC1INH.
Methods: Board-certified HAE-treating physicians from accredited Angioedema Centers of Reference and Excellence (ACAREs) were invited to complete a 27-item online survey between December 2022 and April 2023.
Results: Thirty physicians from 30 ACAREs across 15 countries reported a mean of 71 (range, 11-148) patients with HAE assessed/treated within the previous 12 months. On average, physicians estimated 24% (range, 2-44%) of patients with HAE were diagnosed with HAE-nC1INH, most of whom were adults (88%). To diagnose HAE-nC1INH, physicians most commonly assessed family history and plasma C4 levels (90% each), and C1 function and quantitative levels (87% each). On-demand and prophylactic treatment patterns varied widely across countries, with an average (range) of 56% (33-100%) of patients receiving on-demand treatment only, and 37% (0-67%) receiving both on-demand and prophylactic treatment. Physicians identified the greatest unmet needs in HAE-nC1INH management as treatment specifically indicated for this patient population and availability of an oral treatment.
Conclusion: HAE-nC1INH may be more prevalent than previously reported. Importantly, our findings revealed varying diagnostic and treatment approaches. Validated, accessible diagnostic biomarkers and clinical outcomes derived from rigorous clinical trials assessing mechanistically based treatments would advance understanding and management of HAE-nC1INH.
dc.format
application/pdf
dc.relation
Journal of Allergy and Clinical Immunology: Global;4(3)
dc.relation
https://doi.org/10.1016/j.jacig.2025.100446
dc.rights
Attribution 4.0 International
dc.rights
http://creativecommons.org/licenses/by/4.0/
dc.rights
info:eu-repo/semantics/openAccess
dc.subject
Pell - Malalties - Tractament
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Pell - Malalties - Diagnòstic
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Malalties congènites
dc.subject
DISEASES::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Angioedemas, Hereditary
dc.subject
Other subheadings::Other subheadings::/therapy
dc.subject
DISEASES::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Angioedemas, Hereditary
dc.subject
Other subheadings::Other subheadings::/diagnosis
dc.subject
CHEMICALS AND DRUGS::Amino Acids, Peptides, and Proteins::Peptides::Serpins::Complement C1 Inactivator Proteins::Complement C1 Inhibitor Protein
dc.subject
ENFERMEDADES::enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas::angioedemas hereditarios
dc.subject
Otros calificadores::Otros calificadores::/terapia
dc.subject
ENFERMEDADES::enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas::angioedemas hereditarios
dc.subject
Otros calificadores::Otros calificadores::/diagnóstico
dc.subject
COMPUESTOS QUÍMICOS Y DROGAS::aminoácidos, péptidos y proteínas::péptidos::serpinas::proteínas inactivadoras del complemento C1::proteína inhibidora del complemento C1
dc.title
Global frequency, diagnosis, and treatment of hereditary angioedema with normal C1 inhibitor
dc.type
info:eu-repo/semantics/article
dc.type
info:eu-repo/semantics/publishedVersion
