4th Department of Pediatrics, Aristotle University of Thessaloniki, General Regional Hospital Papageorgiou, Greece.
Curr Opin Allergy Clin Immunol. 2010 Feb;10(1):20-5. doi: 10.1097/ACI.0b013e328334f629.
The purpose of the present review is to outline the clinical aspects and management of the upper airway involvement in the patients suffering from hereditary angioedema.
Molecular mechanisms of hereditary angioedema reviewed in the literature conclude that it is an autosomal dominant disorder, characterized by the deficiency of C1 inhibitor due to mutations of its gene (SERPING). Hereditary angioedema manifests as episodes of localized swelling in any site of the body from skin, gastrointestinal tract to the upper airway, where it is severe and life-threatening. The age of onset, frequency of attacks and the factors triggering upper airway swelling in hereditary angioedema are variable among different patients. Acute laryngeal edema should be managed in emergency with monitoring of airway patency. To avoid airway obstruction, therapy should begin early either with current treatment (C1 inhibitor concentrate) or with new drugs developed recently. In patients with recurrent upper airway swelling attacks, long-term prophylaxis is recommended.
The use of old and new treatment in acute attacks as well as in prophylaxis (long and short-term) has changed the outcome of patients with hereditary angioedema who present upper airway swelling.
本综述旨在概述遗传性血管性水肿患者上呼吸道受累的临床特征和处理方法。
文献中回顾的遗传性血管性水肿的分子机制得出结论，它是一种常染色体显性遗传疾病，其特征是由于基因（SERPING）突变导致 C1 抑制剂缺乏。遗传性血管性水肿表现为身体任何部位的局灶性肿胀，从皮肤、胃肠道到上呼吸道，其严重程度和危及生命。不同患者的发病年龄、发作频率和引发上呼吸道肿胀的因素各不相同。急性喉水肿应在急诊中进行监测气道通畅性的管理。为了避免气道阻塞，应尽早开始治疗，无论是使用当前的治疗方法（C1 抑制剂浓缩物）还是最近开发的新药。对于反复发生上呼吸道肿胀发作的患者，建议进行长期预防。
在急性发作以及预防（长期和短期）中使用新旧治疗方法改变了出现上呼吸道肿胀的遗传性血管性水肿患者的预后。
