Department of Immunology, University Hospital of Wales, Cardiff, UK.
Clin Exp Immunol. 2014 Jan;175(1):59-67. doi: 10.1111/cei.12159.
Hereditary angioedema (HAE) and acquired angioedema (AAE) are rare life-threatening conditions caused by deficiency of C1 inhibitor (C1INH). Both are characterized by recurrent unpredictable episodes of mucosal swelling involving three main areas: the skin, gastrointestinal tract and larynx. Swelling in the gastrointestinal tract results in abdominal pain and vomiting, while swelling in the larynx may be fatal. There are limited UK data on these patients to help improve practice and understand more clearly the burden of disease. An audit tool was designed, informed by the published UK consensus document and clinical practice, and sent to clinicians involved in the care of HAE patients through a number of national organizations. Data sets on 376 patients were received from 14 centres in England, Scotland and Wales. There were 55 deaths from HAE in 33 families, emphasizing the potentially lethal nature of this disease. These data also show that there is a significant diagnostic delay of on average 10 years for type I HAE, 18 years for type II HAE and 5 years for AAE. For HAE the average annual frequency of swellings per patient affecting the periphery was eight, abdomen 5 and airway 0·5, with wide individual variation. The impact on quality of life was rated as moderate or severe by 37% of adult patients. The audit has helped to define the burden of disease in the UK and has aided planning new treatments for UK patients.
遗传性血管性水肿（HAE）和获得性血管性水肿（AAE）是由 C1 抑制剂（C1INH）缺乏引起的罕见危及生命的疾病。这两种疾病的特征均为反复发作、不可预测的黏膜肿胀，主要累及三个部位：皮肤、胃肠道和喉部。胃肠道肿胀导致腹痛和呕吐，而喉部肿胀可能致命。英国针对这些患者的数据有限，无法帮助改善实践并更清楚地了解疾病负担。根据已发表的英国共识文件和临床实践，设计了一个审核工具，并通过多个国家组织向参与 HAE 患者护理的临床医生发送了该工具。从英格兰、苏格兰和威尔士的 14 个中心收到了 376 名患者的数据。在 33 个家族中有 55 例 HAE 死亡，强调了这种疾病的潜在致命性。这些数据还表明，I 型 HAE 的平均诊断延迟为 10 年，II 型 HAE 的平均诊断延迟为 18 年，AAE 的平均诊断延迟为 5 年。HAE 患者每年平均有 8 次外周肿胀、5 次腹部肿胀和 0.5 次气道肿胀，个体差异较大。37%的成年患者认为其生活质量受到中度或重度影响。该审核有助于明确英国的疾病负担，并为英国患者的新治疗方法提供了依据。
