Department of Internal Medicine, Division of Immunology/Allergy Section, University of Cincinnati College of Medicine, Cincinnati, OH 45267-0563, USA.
Postgrad Med. 2012 May;124(3):91-100. doi: 10.3810/pgm.2012.05.2552.
Hereditary angioedema (HAE) is a rare disorder generally caused by a deficit in the activity of C1-esterase inhibitor (C1-INH). Symptoms manifest as recurrent episodes of nonallergic, nonpruritic, and nonpitting edema. Attacks commonly occur on the extremities, trunk, genitalia, abdomen, or head and neck--the latter 2 locations are associated with the greatest morbidity and mortality. In the United States, there has been a considerable void in effective HAE treatments and emergency management guidelines. Clinical outcomes using agents such as fresh-frozen plasma, attenuated androgens (danazol), or plasmin inhibitors (aminocaproic acid) have not been ideal. Recent years have seen progress with US Food and Drug Administration (FDA) approval of several products for acute HAE treatment. Plasma concentrate of C1-INH has long been the treatment of choice in many parts of the world, and a pasteurized formula received FDA approval in October 2009 for treating attacks. Ecallantide, a plasma kallikrein inhibitor, and icatibant, a bradykinin receptor antagonist, were approved in December 2009 and August 2011, respectively, for treatment of acute attacks. A recombinant C1-INH product is in late development stages for treating acute attacks. These new treatments provide symptom relief within hours, dramatically shorten attack duration, and decrease mortality from airway compromise. For the first time, US physicians have rapid-acting and highly effective treatments for managing acute HAE attacks.
遗传性血管性水肿（HAE）是一种罕见的疾病，通常由 C1-酯酶抑制剂（C1-INH）活性缺乏引起。症状表现为反复发作的非过敏性、非瘙痒性、非凹陷性水肿。发作通常发生在四肢、躯干、生殖器、腹部或头部和颈部——后两者与最大的发病率和死亡率相关。在美国，有效的 HAE 治疗和紧急管理指南存在相当大的空白。使用新鲜冷冻血浆、减毒雄激素（danazol）或纤溶酶抑制剂（氨基己酸）等药物的临床结果并不理想。近年来，美国食品和药物管理局（FDA）批准了几种用于急性 HAE 治疗的产品，这方面取得了进展。C1-INH 血浆浓缩物在世界许多地区一直是首选治疗方法，2009 年 10 月，一种巴氏灭菌配方获得 FDA 批准用于治疗发作。血浆激肽释放酶抑制剂 ecallantide 和缓激肽受体拮抗剂 icatibant 分别于 2009 年 12 月和 2011 年 8 月获得批准，用于治疗急性发作。一种重组 C1-INH 产品处于治疗急性发作的后期开发阶段。这些新的治疗方法可在数小时内缓解症状，显著缩短发作持续时间，并降低气道阻塞导致的死亡率。美国医生首次拥有了用于管理急性 HAE 发作的快速起效和高效治疗方法。
