Department of Medicine, UCLA David Geffen School of Medicine, Los Angeles, Calif.
J Allergy Clin Immunol Pract. 2013 Sep-Oct;1(5):427-32. doi: 10.1016/j.jaip.2013.06.004. Epub 2013 Aug 2.
Hereditary angioedema (HAE) with normal C1 inhibitor (C1-INH), also known as HAE type III, is a familial condition only clinically recognized within the past three decades. Similar to HAE from C1-INH deficiency (HAE types I and II), affected individuals experience unpredictable angioedema episodes of the skin, gastrointestinal tract, and airway. Unique clinical features of HAE with normal C1-INH include the predominance of affected women, frequent exacerbation by estrogen, and a prominence of angioedema that involves the face and oropharynx. The underlying pathophysiology of HAE with normal C1-INH is poorly understood, but indirect evidence points to contact pathway dysregulation with bradykinin-mediated angioedema. Currently, evaluation is complicated by a lack of confirmatory laboratory testing such that clinical criteria must often be used to make the diagnosis of HAE with normal C1-INH. Factor XII mutations have been identified in only a minority of persons affected by HAE with normal C1-INH, limiting the utility of such analysis. To date, no controlled clinical studies have examined the efficacy of therapeutic agents for HAE with normal C1-INH, although published evidence supports frequent clinical benefit with medications shown effective in HAE due to C1-INH deficiency.
遗传性血管性水肿（HAE）伴正常 C1 抑制剂（C1-INH），也称为 HAE 型 III，是一种家族性疾病，仅在过去三十年中才在临床上得到认识。与 C1-INH 缺乏引起的 HAE（HAE 型 I 和 II）相似，受影响的个体经历不可预测的皮肤、胃肠道和气道血管性水肿发作。HAE 伴正常 C1-INH 的独特临床特征包括受影响的女性居多、雌激素频繁加重以及涉及面部和口咽的血管性水肿突出。HAE 伴正常 C1-INH 的潜在病理生理学尚未完全理解，但间接证据表明接触途径失调伴缓激肽介导的血管性水肿。目前，评估受到缺乏确认性实验室检测的困扰，因此通常必须使用临床标准来诊断 HAE 伴正常 C1-INH。仅在少数患有 HAE 伴正常 C1-INH 的人中发现了因子 XII 突变，限制了此类分析的效用。迄今为止，尚无对照临床试验研究过 HAE 伴正常 C1-INH 的治疗药物的疗效，尽管已发表的证据支持在因 C1-INH 缺乏引起的 HAE 中有效药物的频繁临床获益。
