什么是遗传性血管性水肿以及如何治疗？
遗传性血管性水肿（Hereditary angioedema, HAE）是一种严重且可能危及生命的疾病，会导致急性肿胀（突然发作）、疼痛和生活质量下降。现已有几种新药被用来治疗HAE急性发作和防止其复发。有些药物是口服的，而另一些则是皮下注射，或通过静脉直接注入血液。
目前用于预防HAE发作的药物是人C1酯酶抑制剂（通常缩写为C1-INH）、贝罗司他、拉那芦人单抗、氨甲环酸和达那唑。此外，我们还发现了另一种药物（阿伏司他），其预防HAE发作的能力正在研究当中。
（图片来自scarysymptoms.com）
我们想知道什么？
我们调查了这些药物是否会减少HAE发作的次数，以及如果发作，那么发作的严重程度是否比不用药物时低。我们还研究了服用这些药物的人是否有更好的生活质量，以及这些药物是否会引起不必要的副作用。
我们做了什么？
我们在医学数据库中检索了针对患有HAE的儿童或成人的临床研究，这些研究将预防HAE发作的药物与安慰剂（一种假治疗）或其他药物进行了比较。
我们发现了什么？
我们找到了15项研究，共有912名受试者。除阿伏司他外的所有药物都减少了HAE发作的次数，即使确实发作了，使用了C1-INH和拉那芦人单抗的患者严重程度也较低（没有关于其他药物的结果）。我们发现大多数药物改善了HAE患者的生活质量，并且通常是安全的，因为它们不会增加严重和不太严重的副作用的数量。
尚无研究测试了氨甲环酸，只有一项研究测试了达那唑。尚无研究直接将一种药物与另一种药物进行比较。这意味着我们不能肯定地说一种药物是否比另一种更好。
结论
C1-INH、贝罗司他、拉那芦人单抗和达那唑似乎可以降低HAE发作的风险并提高HAE患者的生活质量。这些药物似乎不会导致副作用增加。
证据的局限性有哪些？
我们研究结果的局限性在于研究数量少和每项研究受试者人数少。因此，我们对这些结果的可信度为低。
证据的时效性如何？
证据截止至2021年8月3日。
作者结论:
现有数据表明，贝罗司他、C1-INH（皮下、血浆衍生、纳米过滤和重组）、达那唑和拉那芦人单抗可有效降低HAE发作的风险或发生率（或两者兼而有之）。此外，C1-INH和拉那芦人单抗降低了突破性发作的严重程度（其他药物的数据不可用）。阿伏司他、贝罗司他、C1-INH（所有形式）和拉那芦人单抗可提高生活质量，并且不会增加不良事件的风险，包括严重的不良事件。达那唑、皮下C1-INH和重组人C1-INH在降低突破性发作风险方面可能比贝罗司他和拉那芦人单抗更有效，但研究数量少和研究规模小意味着证据质量等级为低。这种情况以及缺乏头对头试验使我们无法就药物的相对疗效得出确切的结论。
作者:Beard N, Frese M, Smertina E, Mere P, Katelaris C, Mills K；译者：黄泽浩，Cochrane Hong Kong，香港中文大学医学院那打素护理学院；审校：牟焕玉，Cochrane Hong Kong，香港中文大学医学院那打素护理学院；编辑排版：索于思，北京中医药大学循证医学中心
【Cochrane Plain Language Summary】
Drug treatments for the prevention of attacks of hereditary angioedema
What is hereditary angioedema and how is it treated?
Hereditary angioedema (HAE) is a serious and potentially life-threatening condition that causes acute (sudden onset) attacks of swelling, pain and reduced quality of life. Several new medicines have been developed to treat acute attacks and prevent attacks from occurring. Some medicines are taken by mouth, whereas others are injected under the skin, or given by a vein directly into the blood.
The medicines currently given for preventing HAE attacks are human C1 esterase inhibitor (often abbreviated as C1-INH), berotralstat, lanadelumab, tranexamic acid, and danazol. In addition, we found a further medicine (avoralstat) that is currently being studied for its ability to prevent HAE attacks.
What did we want to find out?
We investigated whether these medicines reduce the number of HAE attacks, and if any attacks that do occur are less severe than they would otherwise be. We also looked at whether people taking the medicines experienced a better quality of life, and whether the medicines caused unwanted side effects.
What did we do?
We searched medical databases for clinical studies in children or adults with HAE that compared medications to prevent HAE attacks with placebo (a pretend treatment) or another medicine.
What did we find?
We found 15 studies with 912 participants. All medicines except avoralstat reduced the number of HAE attacks, and even when attacks did occur, they were less severe for C1-INH and lanadelumab (there were no results for the other medicines). We found that most medicines improved the quality of life of the people with HAE and were generally safe as they did not increase the number of serious and less serious side effects.
We found no studies that tested tranexamic acid, and only one study tested danazol. There were also no studies that compared one medicine directly with another. This means that we cannot say for sure whether one medicine is better than another.
Conclusions
C1-INH, berotralstat, lanadelumab and danazol appear to reduce the risk of HAE attacks and increase the quality of life in people with HAE. The medicines do not seem to result in an increase in side effects.
What are the limitations of the evidence?
Our findings are limited by the small number of studies and the small number of participants in each study. Therefore, our confidence in these findings is low.
How up to date is this evidence?
The evidence is current to 3 August 2021.
Authors' conclusions:
The available data suggest that berotralstat, C1-INH (subcutaneous, plasma-derived, nanofiltered and recombinant), danazol and lanadelumab are effective in lowering the risk or incidence (or both) of HAE attacks. In addition, C1-INH and lanadelumab decrease the severity of breakthrough attacks (data for other drugs were not available). Avoralstat, berotralstat, C1-INH (all forms) and lanadelumab increase quality of life and do not increase the risk of adverse events, including serious adverse events. It is possible that danazol, subcutaneous C1-INH and recombinant human C1-INH are more effective than berotralstat and lanadelumab in reducing the risk of breakthrough attacks, but the small number of studies and the small size of the studies means that the certainty of the evidence is low. This and the lack of head-to-head trials prevented us from drawing firm conclusions on the relative efficacy of the drugs.
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