Frank M M, Gelfand J A, Atkinson J P
Ann Intern Med. 1976 May;84(5):580-93. doi: 10.7326/0003-4819-84-5-580.
Hereditary angioedema is manifested by attacks of swelling of the extremities, face, trunk, airway, or abdominal viscera, occurring spontaneously or secondary to trauma. It is inherited as an autosomal dominant trait and is due to deficient activity of the inhibitor of the activated first component of complement. The clinical diagnosis can be confirmed by the findings of low levels of C4 or C1 esterase inhibitor activity, or both. Therapy may be divided into three phases: long-term prophylaxis of attacks, short-term prophylaxis of attacks, and treatment of acute attacks. Long-term prophylaxis may be achieved with antifibrinolytic agents and androgens. Short-term prophylaxis with these agents and plasma transfusions has been successful. Specific therapy for acute attacks is not available, but good supportive care, together with a knowledge of the course of the disease, can prevent asphyxiation from airway obstruction. Before the advent of therapy, mortality was reported as high as 30%.
遗传性血管性水肿表现为四肢、面部、躯干、气道或腹部脏器的肿胀发作,可自发出现或继发于创伤。它作为常染色体显性性状遗传,是由于补体激活的第一成分抑制剂活性不足所致。临床诊断可通过C4水平低或C1酯酶抑制剂活性低或两者皆低的结果来确诊。治疗可分为三个阶段:发作的长期预防、发作的短期预防和急性发作的治疗。长期预防可用抗纤维蛋白溶解剂和雄激素。用这些药物和输血进行短期预防已取得成功。目前尚无针对急性发作的特效疗法,但良好的支持治疗以及对疾病病程的了解,可预防气道阻塞导致的窒息。在治疗方法出现之前,据报道死亡率高达30%。