3rd Department of Internal Medicine, Faculty of Medicine, Semmelweis University, H-1125 Budapest, Kútvölgyi út 4, Hungary.
Allergy Asthma Clin Immunol. 2010 Jul 28;6(1):19. doi: 10.1186/1710-1492-6-19.
Hereditary angioedema is a rare disorder with a genetic background involving mutations in the genes encoding C1-INH and of factor XII. Its etiology is unknown in a proportion of cases. Recurrent edema formation may involve the subcutis and the submucosa - the latter can produce obstruction in the upper airways and thereby lead to life-threatening asphyxia. This is the reason for the high, 30-to 50-per-cent mortality of undiagnosed or improperly managed cases. Airway obstruction can be prevented through early diagnosis, meaningful patient information, timely recognition of initial symptoms, state-of-the-art emergency therapy, and close monitoring of the patient. Prophylaxis can substantially mitigate the risk of upper airway edema and also improve the patients' quality of life. Notwithstanding the foregoing, any form of upper airway edema should be regarded as a potentially life-threatening condition. None of the currently available prophylactic modalities is capable of preventing UAE with absolute certainty.
遗传性血管性水肿是一种罕见的疾病,具有遗传背景,涉及编码 C1-INH 和因子 XII 的基因突变。在一定比例的病例中,其病因尚不清楚。复发性水肿的形成可能涉及皮下组织和粘膜下层 - 后者可在上呼吸道产生阻塞,从而导致危及生命的窒息。这就是未确诊或处理不当的病例高死亡率(30%至 50%)的原因。通过早期诊断、有意义的患者信息、及时识别初始症状、先进的紧急治疗以及密切监测患者,可以预防气道阻塞。预防措施可以显著降低上呼吸道水肿的风险,也可以提高患者的生活质量。尽管如此,任何形式的上呼吸道水肿都应被视为一种潜在的危及生命的情况。目前可用的任何预防方法都不能绝对预防 UAE。