Affiliation:
1. Institute of Allergology IFA Charité – Universitätsmedizin Berlin Berlin Germany
2. Fraunhofer Institute for Translational Medicine and Pharmacology ITMP Allergology and Immunology Berlin Germany
3. Allergy Section Internal Medicine Department Hospital Universitari Vall d’Hebron Barcelona Spain
4. Allergy Unit Dermatology Department University Hospital of Zurich Zurich Switzerland
5. Department of Otorhinolaryngology Klinikum rechts der Isar Technical University of Munich Munich Germany
6. Department of Translational Medical Sciences and Center for Basic and Clinical Immunology Research (CISI) University of Naples Federico II Naples Italy
Abstract
AbstractHereditary 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.
Subject
Immunology and Allergy,Immunology,Pulmonary and Respiratory Medicine