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International guideline on the diagnosis and management of pediatric patients with hereditary angioedema

  • Henriette Farkas
  • , Inmaculada Martinez-Saguer
  • , Konrad Bork
  • , Anastasios E. Germenis
  • , Anete S. Grumach
  • , Hanga Réka Horváth
  • , Andrea Luczay
  • , Andrea Zanichelli
  • , Markus Magerl
  • , Stephen Betschel
  • , Emel Aygören-Pürsün
  • , Jonathan A. Bernstein
  • , Isabelle Boccon-Gibod
  • , Teresa Caballero
  • , Mauro Cancian
  • , Sandra Christiansen
  • , Danny M. Cohn
  • , Francisco Contreras
  • , Sansanee Craig
  • , Camelia Isaic
  • Ankur Jindal, Constance H. Katelaris, Hilary J. Longhurst, Andrew MacGinnitie, Jonny Peter, Grzegorz Porebski, Avner Reshef, Dinh Van Nguyen, Bruce Zuraw, Anthony J. Castaldo, Henrik Balle Boysen, Timothy Craig, Hereditary Angioedema Working Group
  • Semmelweis University
  • HZRM Heamophilia Centre Rein Main
  • Johannes Gutenberg University Mainz
  • University of Thessaly
  • Centro Universitario Faculdade de Medicina do ABC
  • IRCCS Policlinico San Donato
  • University of Milan
  • Charité – Universitätsmedizin Berlin
  • Fraunhofer Institute for Translational Medicine and Pharmacology ITMP
  • University of Toronto
  • Goethe University Frankfurt
  • University of Cincinnati
  • Université Grenoble Alpes
  • Hospital La Paz Institute for Health Research (IdiPAZ)
  • Azienda Ospedaliera di Padova
  • University of California at San Diego
  • University of Amsterdam
  • Instituto Nacional de Pediatria
  • University of Pennsylvania
  • Children's Hospital of Philadelphia
  • HAE Junior Patient Organization
  • Manipal Academy of Higher Education
  • Campbelltown Hospital
  • Auckland District Health Board
  • Medical College of Wisconsin
  • University of Cape Town
  • Jagiellonian University Medical College
  • Barzilai University Medical Center
  • VinUniversity
  • Vinmec Times City International Hospital
  • Pennsylvania State University
  • VA Medical Center
  • Hereditary Angioedema International

Research output: Contribution to journalArticlepeer-review

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Abstract

Hereditary angioedema (HAE) with C1 inhibitor deficiency is a rare disease characterized by unpredictable episodes of tissue swelling (angioedema), which, in most cases, occur first under the age of 18 years, and entail a significant burden of disease not only for the patients but also for their families. Clinical symptoms of HAE are not specific, which may cause difficulties in differential diagnosis. Additionally, if not appropriately treated, HAE attacks can be life-threatening. The international HAE guidelines published so far have focused mainly on adults. A guideline that refers to the age-specific characteristics of pediatric patients, both in terms of diagnosis and management, was therefore needed. The International Steering Committee and Taskforce developed recommendations and provided evidence-based grading based on expert opinion and strength of evidence. Recommendations were presented to, discussed, and electronically voted by healthcare professionals during the 14th C1 Inhibitor Deficiency and Angioedema Workshop in Budapest, Hungary, 2025. This international guideline will ensure early diagnosis, standardized and up-to-date treatment, and promote the availability of effective therapies for all pediatric patients affected with this rare disease. It also draws attention to the importance of establishing HAE centers and registries, which solicit specialist care and research of the disease.

Original languageEnglish
Number of pages31
JournalAllergy: European Journal of Allergy and Clinical Immunology
DOIs
Publication statusE-pub ahead of print (In Press) - 2026

Keywords

  • acute treatment
  • bradykinin
  • C1 inhibitor deficiency
  • complement test
  • comprehensive care
  • genetic testing
  • hereditary angioedema
  • long-term prophylaxis
  • pediatric guideline
  • short-term prophylaxis

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