Magerl Markus, Sala-Cunill Anna, Weber-Chrysochoou Christina, Trainotti Susanne, Mormile Ilaria, Spadaro Giuseppe
Institute of Allergology IFA, Charité - Universitätsmedizin Berlin, Berlin, Germany.
Fraunhofer Institute for Translational Medicine and Pharmacology ITMP, Allergology and Immunology, Berlin, Germany.
Clin Transl Allergy. 2023 Sep;13(9):e12297. doi: 10.1002/clt2.12297.
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.
遗传性血管性水肿（HAE）是一种罕见的常染色体显性疾病，患者在得到正确诊断之前，往往多年来一直遭受相关症状的折磨。这些症状对患者的生活质量（QoL）有很大影响，包括剧烈的腹痛以及皮肤和黏膜下的血管性水肿。喉部血管性水肿对未确诊的患者构成重大死亡风险，而且很大一部分HAE患者被误诊并接受了不必要的手术。除了改善生活质量外，HAE特异性治疗还可以控制和预防危及生命的急性发作，这凸显了对患者进行早期诊断的重要性。诊断延迟可能是由于医疗保健专业人员对HAE缺乏认识，以及HAE症状与更常见疾病的症状相似，使鉴别诊断变得复杂。这种疾病的多面性可能导致患者前往许多不同的医疗科室就诊，例如：急诊室、儿科、全科医疗、耳鼻喉科、胃肠病科和皮肤科。因此，多个医疗专业的医生了解这种疾病至关重要，以确保HAE患者能得到及时诊断。本综述通过来自各个医学专业的患者病例，强调了跨专业了解HAE的必要性，并为可能遇到有HAE症状患者的各类医疗保健专业人员概述了基本信息，以便有效治疗和/或诊断HAE。
