What is HAE?
Hereditary angioedema (HAE)
is a rare genetic disease
HAE can cause repeated attacks of swelling that can be painful and disabling. HAE is called "hereditary" because it usually runs in families. So, what causes HAE?
Typically, people with HAE are either missing an important protein in their blood called C1-inhibitor, or it doesn’t work the way it should. This can cause another protein, kallikrein, to become overactive. This increase in kallikrein activity results in too much bradykinin, the substance that causes HAE attacks.
TAKHZYRO decreases plasma kallikrein activity. See how it works here.
Understanding HAE Type I and II
Most people with HAE (about 85%) have HAE Type I. Some patients with HAE (about 15%) have HAE Type II. Doctors need a blood test to show whether a patient has HAE Type I or Type II because they can look very similar to one another. They both cause swelling attacks in different locations throughout the body, and both types occur because of a genetic mutation.
Can HAE be misdiagnosed?
Because HAE symptoms can look very similar to the symptoms of other, more common conditions, it can be easy to misdiagnose. In a 2010 survey of 313 people with HAE, up to 65% of the participants had been misdiagnosed with another condition prior to receiving their HAE diagnosis:
- Most commonly, skin attacks were mistaken for other skin conditions, like contact dermatitis, which can cause the skin to become irritated and swollen
- Abdominal attacks were also confused with appendicitis or irritable bowel syndrome
What can getting misdiagnosed with another condition mean?
- It can take longer to get an accurate HAE diagnosis
- People who are undiagnosed are at greater risk of receiving the wrong treatment
- In an emergency situation, like an HAE attack affecting the airway, getting the wrong treatment has the potential to be life-threatening