HAE overview

Liz
Diagnosed with
HAE in 2013

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:

Locations where hereditary angioedema attacks can occur Locations where hereditary angioedema attacks can occur

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.

1 in 10,000 to 1 in 50,000 people globally are estimated to be living with HAE. 1 in 10,000 to 1 in 50,000 people globally are estimated to be living with HAE.

For me, getting diagnosed was a long and complicated road because HAE is so rare.

LizDiagnosed with
HAE in 2013

Types of HAE

There are 3 types of HAE. They have similar symptoms but result from different genetic mutations.

Type 1 hereditary angioedema results from a mutation that causes there to be a low level of C1 esterase inhibitors but the C1 esterase inhibitors function normally.  This is the most common type of hereditary angioedema, affecting 85% of the population of people with HAE.
Type 2 hereditary angioedema results from a mutation that causes there to be a normal level of C1 esterase inhibitors, but the C1 esterase inhibitors do not function normally. This is a less common type of hereditary angioedema, affecting less than 15% of the population of people with HAE.
Hereditary angioedema with normal C1-INH (previously known as Type 3 HAE)  results from a mutation that causes HAE even when there are normal levels of C1 esterase inhibitors that function normally. This is an extremely rare type of hereditary angioedema, affecting less than 1% of the population of people with HAE.

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