具有遗传性血管性水肿（HAE）的人会经历软组织肿胀的情节。这种情况发生在手，脚，胃肠道，生殖器，脸部和喉咙中。

This article details the stages of an HAE attack and how to treat it.

在HAE攻击过程中，遗传基因突变导致一系列导致肿胀的事件。肿胀不同于过敏攻击。

Mutations occur in theSerping1gene

炎症是您身体对感染，刺激或受伤的正常反应。在某个时候，您的身体需要能够控制炎症，因为太多会导致问题。

有three different types of HAE。这two most common types of HAE (types 1 and 2) occur due to mutations (errors) in a gene calledSerping1。

This gene provides instructions for making the C1 esterase inhibitor protein (C1-INH). C1-INH helps reduce inflammation by blocking the activity of proteins that promote inflammation.

C1 esterase inhibitor levels reduce in amount or function

这mutation that causes HAE会导致减少在血液中的C1-INH水平（1型）中。尽管C1-INH水平正常（2型），但它也可能导致C1-INH无法正常运行。

Kallikrein activates

这next step in the chain of events leading to an HAE attack involves an enzyme in the blood known as kallikrein. C1-INH suppresses kallikrein.

Without enough C1-INH, the body cannot inhibit kallikrein activity. The kallikrein then separates (cleaves) a substrate known as high-molecular-weight kininogen.

半阳性生产过多

当kallikrein拆分差异时，它会导致一种称为Bradykinin的肽。Bradykinin是一种血管扩张剂，它可以打开（扩张）血管腔。在HAE攻击过程中，人体会产生过量的心动激肽。

血管泄漏过多的液体

Bradykinin allows more fluid to pass through blood vessels into body tissues. This leakage and the blood vessel dilation it causes result in lower blood pressure.

液体积聚在身体组织中

如果没有足够的C1-INH来控制这一过程，则液体会在人体皮下组织中积聚。

多余的液体积聚会导致严重的肿胀。

3型HAE中会发生什么

第三种非常罕见的HAE（3型）发生在不同的物质中。3型由位于5号染色体上的不同基因中的突变产生F12。

该基因提供了制作称为凝血因子XII的蛋白质的说明。该蛋白质参与血液凝结，还负责刺激炎症。

一个突变F12gene creates a factor XII protein with increased activity. This, in turn, causes more bradykinin production. Like types 1 and 2, the increase in bradykinin makes blood vessel walls leak uncontrollably, which leads to episodes of swelling.

没有治疗，人们可能会经历HAE攻击1至2周。Each instance may last for 3 to 4 days.

在某个时候，您的身体将需要C1-INH来帮助控制炎症。某些HAE攻击没有任何明确的理由。也有 触发器 that increase your body’s need for C1-INH. The triggers vary from person to person, but common triggers include:

  • 重复的体育活动
  • 在身体一个区域造成压力的活动
  • 冻结天气或天气变化
  • 高太阳暴露
  • insect bites
  • emotional stress
  • infections or other illnesses
  • 手术
  • dental procedures
  • 激素变化
  • certain foods, like nuts or milk
  • blood pressure-reducing medications, known as ACE inhibitors

HAE攻击的主要症状是反复肿胀。这最常见的位置因为这种肿胀包括：

  • the face
  • 四肢
  • airways
  • 肠道

People typically first experience HAE attacks during childhood, and symptoms may worsen throughout adolescence.

顾名思义，海是遗传状况。

It occurs when a genetic defect means a person does not have enough C1-INH in their blood or the protein does not work correctly.

C1-INH水平或功能的短缺意味着身体不能调节其某些炎症反应，从而导致攻击期间过度肿胀。

Knowing what happens during an HAE attack has led to improvements in treatments.

To stop fluid from building up, people with HAE需要服药。HAE drugs either prevent swelling or increase the amount of C1-INH in the blood.

这些包括：

  • 直接输注捐赠的新鲜冷冻血浆，其中包含C1酯酶抑制剂
  • medications that replace C1-INH in the blood, such as Berinert, Ruconest, Haegarda, and Cinryze
  • 雄激素疗法，例如一种称为Danazol的药物，可以增加肝脏产生的C1-INH酯酶抑制剂的量
  • Ecallantide（Kalbitor），这是一种抑制kallikrein裂解的药物，从而阻止了缓激肽的产生
  • iCatibant（firazyr），它阻止激进激素与其受体结合，Bradykinin B2受体拮抗剂

HAE攻击的发生与过敏反应不同。结果，您可能会用来治疗过敏反应的药物，例如抗组胺药，皮质类固醇和肾上腺素，将无法在HAE攻击中起作用。

Hereditary angioedema (HAE) is a hereditary condition that causes recurrent swelling.

HAE occurs due to a C1-INH protein dysfunction. During an attack, these proteins cannot regulate your body’s inflammatory responses as they should, which leads to uncontrolled swelling.

Most people with HAE will cycle between periods of flare ups, where symptoms worsen, and periods of remission, where no swelling occurs.

Typically, HAE flares will occur once every1至2周最后3到4天。