Hereditary angioedema (HAE) is a rare inherited and potentially life-threatening condition. About 1 in 10,000 to 1 in 50,000 people have HAE. Symptoms include episodes of swelling (edema) in various parts of the body including the hands, feet, face and airway. Patients also often experience excruciating abdominal pain, nausea and vomiting caused by swelling in the intestinal wall. Airway swelling is particularly dangerous and can lead to death by asphyxiation.
How is HAE diagnosed?
Laboratory analysis of blood samples or genetic testing is required to establish the HAE diagnosis. There are two specific blood tests that confirm HAE:
- C1-inhibitor quantitative (antigenic)
- C1-inhibitor functional