2026-04-13T14:18:18Zhttps://recercat.cat/oai/request

oai:recercat.cat:11351/103892025-10-24T10:18:56Zcom_2072_378070com_2072_378040col_2072_378092

Could it be hereditary angioedema?—Perspectives from different medical specialties Magerl, Markus Sala Cunill, Anna Weber-Chrysochoou, Christina Trainotti, Susanne Mormile, Ilaria SPADARO, Giuseppe Inflamació Pell - Malalties - Diagnòstic Pell - Malalties - Aspectes genètics Malalties rares DISEASES::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Angioedemas, Hereditary Other subheadings::Other subheadings::/diagnosis ENFERMEDADES::enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas::angioedemas hereditarios Otros calificadores::Otros calificadores::/diagnóstico Bradykinin; Differential diagnosis; Hereditary angioedema Bradicinina; Diagnóstico diferencial; Angioedema hereditario Bradicinina; Diagnòstic diferencial; Angioedema hereditari Hereditary angioedema (HAE) is a rare autosomal dominant disease, with patients often suffering with associated symptoms for many years before receiving a correct diagnosis. The symptoms greatly impact a patient's quality of life (QoL) and include excruciating abdominal pain and angioedema of the skin and submucosa. Angioedema of the larynx represents a significant mortality risk in undiagnosed patients, and a large proportion of patients with HAE receive incorrect diagnoses and undergo unnecessary surgery. HAE-specific treatments can control and prevent acute life-threatening episodes, in addition to improving QoL, emphasizing the value of early diagnosis for patients. Diagnostic delay may be due to a lack of HAE awareness by healthcare professionals and the similarity of HAE symptoms with those of more common conditions, complicating differential diagnosis. The multifaceted nature of the condition may result in visits to one of many different medical settings, for example: the Emergency Room, pediatrics, general practice, otolaryngology, gastroenterology, and dermatology. Therefore, it is crucial that physicians in multiple healthcare specialties are aware of the disease to ensure that patients with HAE receive a timely diagnosis. Using patient cases from various medical specialties, this review highlights the necessity for cross-specialty awareness of HAE and outlines the essential information for the various healthcare professionals that may encounter a patient with HAE symptoms, in order to effectively treat and/or diagnose HAE. 2025-10-24T10:18:56Z 2025-10-24T10:18:56Z 2025-10-24T10:18:56Z 2023-10-02T10:17:54Z 2023-10-02T10:17:54Z 2023-09-19 info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion http://hdl.handle.net/11351/10389 Clinical and Translational Allergy;13(9) https://doi.org/10.1002/clt2.12297 Attribution 4.0 International http://creativecommons.org/licenses/by/4.0/ info:eu-repo/semantics/openAccess Wiley Scientia