Reshef Avner, Leibovich Iris, Goren Avner
Allergy and Immunology Unit and Angioedema Center, Sheba Medical Center, Tel Hashomer, Israel.
Isr Med Assoc J. 2008 Dec;10(12):850-5.
Hereditary angioedema is a rare genetic disorder, manifested by recurrent edema leading to disfigurement, organ dysfunction and life-threatening respiratory impairment that may become fatal. The hallmark of HAE is C1 esterase inhibitor deficiency, but recent evidence points at bradykinin as the main mediator that causes hyperpermeability of small vasculature, leading to accumulation of edema fluid. Current therapeutic options for HAE are limited, and consist of drugs, replacement therapy, and supportive treatment. In view of many disadvantages of the current therapeutic modalities, new approaches to the treatment of HAE are now being offered. This review summarizes our experience with a new line of medications developed for the treatment of acute exacerbations and prophylaxis of HAE--icatibant: bradykinin receptor antagonist, ecallantide: kallikrein inhibitor, and two C1 INH preparations: Berinert-P, human plasma-derived concentrate, and Rhucin: novel recombinant C1-INH produced in transgenic rabbits. Preliminary results of these studies are encouraging and may bring new hope to the patients with this distressing condition. The exact number of HAE patients in Israel is unknown and because patients are treated individually and comprehensive laboratory assessment is partial, many cases might be missed or not treated according to accepted guidelines. We offer a new specialty center for HAE patients, addressing the medical and psychosocial needs of patients and their families.
遗传性血管性水肿是一种罕见的遗传性疾病，表现为反复发作的水肿，可导致容貌毁损、器官功能障碍以及危及生命的呼吸功能损害，甚至可能致命。遗传性血管性水肿的标志是C1酯酶抑制剂缺乏，但最近的证据表明缓激肽是导致小血管通透性增加、进而引起水肿液积聚的主要介质。目前遗传性血管性水肿的治疗选择有限，包括药物治疗、替代疗法和支持性治疗。鉴于当前治疗方式存在诸多弊端，现在正在探索遗传性血管性水肿的新治疗方法。本综述总结了我们在用于治疗遗传性血管性水肿急性发作和预防的一系列新药方面的经验——依卡替班：缓激肽受体拮抗剂；艾卡拉肽：激肽释放酶抑制剂；以及两种C1-INH制剂：贝林妥欧（Berinert-P），人血浆源性浓缩物；和Ruconest（Rhucin）：转基因兔产生的新型重组C1-INH。这些研究的初步结果令人鼓舞，可能会给患有这种令人痛苦疾病的患者带来新希望。以色列遗传性血管性水肿患者的确切数量尚不清楚，由于患者是接受个体化治疗且全面的实验室评估不完整，许多病例可能会被漏诊或未按照公认的指南进行治疗。我们为遗传性血管性水肿患者设立了一个新的专科中心，以满足患者及其家庭的医疗和心理社会需求。
