Department of Dermatology, Johannes Gutenberg University, Langenbeckstr. 1, 55131 Mainz, Germany.
Expert Rev Clin Immunol. 2011 Nov;7(6):723-33. doi: 10.1586/eci.11.72.
Hereditary angioedema is a relatively rare genetic disorder affecting between one in 10,000 and one in 50,000 individuals worldwide. The most common clinical symptoms observed are relapsing swelling of the skin and abdominal pain attacks. However, more serious and potentially fatal laryngeal attacks can also occur. Hereditary angioedema is most frequently caused by a deficiency of C1-inhibitor. Replacement therapy with Berinert, an intravenous pasteurized C1-inhibitor concentrate derived from human plasma, is a recommended treatment for rapid resolution of acute attacks of hereditary angioedema due to C1-inhibitor deficiency. Prophylactic therapy with C1-inhibitor is also available. Future advances may improve morbidity and mortality associated with hereditary angioedema.
遗传性血管性水肿是一种相对罕见的遗传性疾病,影响全球每 10000 至 50000 人中的 1 人。最常见的临床症状是皮肤和腹痛反复发作性肿胀。但是,也可能发生更严重且潜在致命的喉头发作。遗传性血管性水肿最常由 C1 抑制剂缺乏引起。贝林特(一种源自人血浆的静脉内巴氏灭菌 C1 抑制剂浓缩物)是治疗 C1 抑制剂缺乏引起的遗传性血管性水肿急性发作的推荐疗法,可用于迅速缓解症状。也可进行 C1 抑制剂预防性治疗。未来的进展可能会改善与遗传性血管性水肿相关的发病率和死亡率。