可能是遗传性血管性水肿吗-来自不同医学专业的观点。

IF 4.6 2区 医学 Q2 ALLERGY
Markus Magerl, Anna Sala-Cunill, Christina Weber-Chrysochoou, Susanne Trainotti, Ilaria Mormile, Giuseppe Spadaro
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引用次数: 0

摘要

遗传性血管性水肿(HAE)是一种罕见的常染色体显性遗传疾病,患者在得到正确诊断之前,往往会出现多年的相关症状。这些症状极大地影响了患者的生活质量(QoL),包括剧烈的腹痛和皮肤和粘膜下层的血管性水肿。在未确诊的患者中,喉部血管性水肿是一个显著的死亡风险,并且很大一部分HAE患者接受了错误的诊断和不必要的手术。HAE特异性治疗除了可以改善生活质量外,还可以控制和预防急性危及生命的发作,强调早期诊断对患者的价值。诊断延迟可能是由于医疗专业人员缺乏HAE意识,以及HAE症状与更常见疾病的症状相似,使鉴别诊断复杂化。这种疾病的多方面性质可能会导致就诊于许多不同的医疗环境之一,例如:急诊室、儿科、全科医生、耳鼻喉科、胃肠科和皮肤科。因此,至关重要的是,多个医疗专业的医生要意识到这种疾病,以确保HAE患者得到及时诊断。本综述利用来自不同医学专业的患者案例,强调了跨专业了解HAE的必要性,并概述了可能遇到HAE症状患者的各种医疗保健专业人员的基本信息,以有效治疗和/或诊断HAE。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Could it be hereditary angioedema?—Perspectives from different medical specialties

Could it be hereditary angioedema?—Perspectives from different medical specialties

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.

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来源期刊
Clinical and Translational Allergy
Clinical and Translational Allergy Immunology and Microbiology-Immunology
CiteScore
7.50
自引率
4.50%
发文量
117
审稿时长
12 weeks
期刊介绍: Clinical and Translational Allergy, one of several journals in the portfolio of the European Academy of Allergy and Clinical Immunology, provides a platform for the dissemination of allergy research and reviews, as well as EAACI position papers, task force reports and guidelines, amongst an international scientific audience. Clinical and Translational Allergy accepts clinical and translational research in the following areas and other related topics: asthma, rhinitis, rhinosinusitis, drug hypersensitivity, allergic conjunctivitis, allergic skin diseases, atopic eczema, urticaria, angioedema, venom hypersensitivity, anaphylaxis, food allergy, immunotherapy, immune modulators and biologics, animal models of allergic disease, immune mechanisms, or any other topic related to allergic disease.
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