2026-04-17T04:24:06Zhttps://recercat.cat/oai/requestoai:recercat.cat:11351/103892025-10-24T10:18:56Zcom_2072_378070com_2072_378040col_2072_378092
RECERCAT
author
Magerl, Markus
author
Sala Cunill, Anna
author
Weber-Chrysochoou, Christina
author
Trainotti, Susanne
author
Mormile, Ilaria
author
SPADARO, Giuseppe
2025-10-24T10:18:56Z
2025-10-24T10:18:56Z
2023-10-02T10:17:54Z2023-10-02T10:17:54Z2023-09-19
http://hdl.handle.net/11351/10389
Bradykinin; Differential diagnosis; Hereditary angioedemaBradicinina; Diagnóstico diferencial; Angioedema hereditarioBradicinina; Diagnòstic diferencial; Angioedema hereditariHereditary 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.
Attribution 4.0 International http://creativecommons.org/licenses/by/4.0/ info:eu-repo/semantics/openAccess
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
Could it be hereditary angioedema?—Perspectives from different medical specialties
info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion