Learning you or a loved one has been diagnosed with hereditary angioedema (HAE) can be very unsettling. It’s a rare condition most people have never heard of. That’s why it’s important to know both what’s happening in the body during an HAE attack and your options for managing the disease.
HAE is a disease that has as its root cause, a defect in C1-inhibitor activity, usually as a result of a genetic condition. It affects about 1 in 10,000 to 1 in 50,000 people. Lack of C1-inhibitor leads to uncontrolled activity of an enzyme known as plasma kallikrein, which triggers excessive release of a peptide called bradykinin. This in turn can lead to episodic attacks of swelling (edema) in the hands, feet, gastrointestinal tract, face and larynx (airway).
An HAE episode with abdominal or intestinal wall swelling can cause severe pain, nausea and vomiting. Swelling that attacks the larynx can lead to suffocation and potentially life-threatening situations.