Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, 75390-8859, USA.
Allergy Asthma Proc. 2011 Jan-Feb;32(1):1-10. doi: 10.2500/aap.2011.32.3411.
Hereditary angioedema (HAE) is a rare disorder first described in 1888 by Sir William Osler. Since then, our understanding of this condition has increased tremendously. This article reviews the historical aspects, classification, pathophysiology, clinical presentation, and laboratory diagnosis of HAE. A review was performed of historical and current literature of HAE. HAE I and II are related to insufficient production of C1-esterase inhibitor (C1-INH) or production of a dysfunctional C1-INH protein, respectively. HAE III is not related to C1-INH deficiency and the pathogenesis is unknown. Bradykinin appears to be the main mediator responsible for angioedema in patients with C1-INH deficiencies. Angioedema of the extremities, face, and upper airway along with gastrointestinal angioedema are the most common clinical features in HAE. The laboratory tests that are most commonly used in the diagnosis of HAE include C4, C1-INH concentration, and C1-INH function. Advances in our understanding of the pathogenesis of HAE have led to several advances in the therapy of this disease. Despite our more thorough understanding of the genetics and pathophysiology of HAE, many questions remain unanswered.
遗传性血管性水肿（HAE）是一种罕见的疾病，于 1888 年由威廉·奥斯勒爵士首次描述。自那时以来，我们对这种疾病的认识有了极大的提高。本文回顾了 HAE 的历史方面、分类、病理生理学、临床表现和实验室诊断。对 HAE 的历史和当前文献进行了回顾。HAE I 和 II 分别与 C1-酯酶抑制剂（C1-INH）产生不足或产生功能失调的 C1-INH 蛋白有关。HAE III 与 C1-INH 缺乏无关，其发病机制尚不清楚。缓激肽似乎是导致 C1-INH 缺乏症患者血管性水肿的主要介质。四肢、面部和上呼吸道的血管性水肿以及胃肠道血管性水肿是 HAE 最常见的临床特征。最常用于诊断 HAE 的实验室检查包括 C4、C1-INH 浓度和 C1-INH 功能。我们对 HAE 发病机制的认识的提高导致了该疾病治疗的几个进展。尽管我们对 HAE 的遗传学和病理生理学有了更深入的了解，但仍有许多问题尚未得到解答。
