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Evolution of Guidelines for the Management of Hereditary Angioedema due to C1 Inhibitor Deficiency

Branco Ferreira M1,2*, Baeza ML3,4,5, Spínola Santos A1,2, Prieto-García A3,4, Leal R6, Alvarez J7, Caballero T8,9,10

1Serviço de Imunoalergologia, Centro Hospitalar Universitário de Lisboa Norte, Lisbon, Portugal
2Clínica Universitária de Imunoalergologia da Faculdade de Medicina, Universidade de Lisboa, Lisbon, Portugal
3Department of Allergy, Gregorio Marañón University General Hospital, Madrid, Spain
4Institute for Health Research Gregorio Marañón, IiSGM, Madrid, Spain
5Biomedical Research Network on Rare Diseases (CIBERER, U761), Madrid, Spain
6Medical Department Iberia, CSL Behring LDA, Lisbon, Portugal
7Medical Department Iberia, CSL Behring SA, Barcelona, Spain
8Department of Allergy, La Paz University Hospital, Madrid, Spain
9Hospital La Paz Institute for Health Research IdiPAZ – Group 44, Madrid, Spain
10Biomedical Research Network on Rare Diseases - CIBERER U754, Madrid, Spain

J Investig Allergol Clin Immunol 2023; Vol 33(5) : 332-362
doi: 10.18176/jiaci.0909

Hereditary angioedema (HAE) is a severe and disabling condition characterized by recurrent episodes of subcutaneous or mucosal swelling in the skin and respiratory and gastrointestinal tracts. HAE due to C1-esterase inhibitor deficiency (C1-INH-HAE) is the most prevalent subtype. The present Iberian study compared C1-INH-HAE treatment guidelines published between 2010 and 2022 to identify the main differences in therapeutic approaches for on-demand treatment and short- and long-term prophylaxis (LTP).
HAE guidelines evolved with the availability of new treatments and with a change in the management paradigm towards an individualized, patient-centered approach, where quality of life (QOL) is central. A parallel trend was observed towards increasingly frequent home-based treatment, which potentially facilitates timely interventions, provides greater flexibility and convenience, and is associated with increased QOL, enabling patients to lead more normal lives.
Most innovations over the years were made for LTP, together with the advent of new therapies and awareness of patients’ needs. Several prophylactic therapies with a high level of evidence became available, although formal head-to-head comparisons are lacking. The treatment goals became more ambitious, ranging from a reduction in the frequency, severity, and duration of attacks to achieving total disease control and normalization of patients’ lives. The document also addresses relevant items such as changes in terminology (eg, the introduction of designations as “first-line”) and the introduction of patient-reported outcome measures to assess patients’ perceptions of their self-experienced QOL and well-being. Unmet needs in the management of C1-INH-HAE are identified.

Key words: C1 inhibitor deficiency, Consensus document, Guideline, Hereditary angioedema treatment