What is HAE?
Hereditary angioedema (HAE)
is a rare genetic disorder
HAE can cause repeated attacks of swelling that can be painful and disabling. HAE is called "hereditary" because it usually runs in families.
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.
What are the challenges in diagnosis?
DELAYS IN DIAGNOSIS
It’s thought that only about 1 in 50,000 people in the world have HAE. And it’s estimated that about 6,000 people have HAE in the United States. HAE is rare, and many doctors may never encounter a patient with HAE. However, there is a need for more members of the medical community to learn how to recognize, diagnose, and treat it.
It’s not unusual for people with HAE to go for years after they start experiencing symptoms before seeing a doctor who can correctly diagnosis them with HAE.
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 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.
Getting misdiagnosed with another condition can mean that it takes longer to get an accurate HAE diagnosis. And 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.