What is hereditary angioedema (HAE)?
Hereditary angioedema (HAE) is a rare genetic disorder that can cause recurrent attacks of painful, disabling swelling. Attacks can occur in any part of the body, but characteristic locations include:
It's important to remember that an HAE attack that affects the throat is potentially life-threatening because it puts you at risk of suffocation. Make sure you have a plan in place for this type of attack and seek emergency care as soon as possible.
HAE usually runs in families, which is why it's called "hereditary." People with HAE are typically missing an important protein called C1 esterase inhibitor (C1-INH) in their blood, or it doesn't work the way it should. This can cause a cascade of events to occur in the body, which leads to the localized swelling and pain of an HAE attack.
HAE is rare
It's thought that only 1 in 10,000 to 1 in 50,000 people in the entire world have HAE. And it's estimated that only 6,000 people in the United States live with HAE.
For me, getting diagnosed was a long and complicated road because HAE is so rare.
Types of HAE
There are 3 types of HAE. They have similar symptoms but result from different genetic mutations.