In short HAE means – Hereditary Angioedema.
“Hereditary” means “inherited” or in other words a condition that is passed down from a parent to his/her child.
“Angioedema” means swelling, that happens when fluid gathers under the skin.
HAE is a very rare genetic condition and only 1 out of 10 000 to 1 out of 50 000 people have it.
HAE patients have a defect or as some say “mutation” in the gene that controls a blood protein called C1 Inhibitor. This means that the protein (C1 Inhibitor) is not made properly or the amount your body produces is not enough.
Normal C1-Inhibitor helps to regulate blood systems. In HAE patients, C1-Inhibitor does not do its regulatory function, this causes an imbalance that leads to the capillaries releasing fluids into surrounding body tissue, causing swelling.
HAE symptoms include episodes of edema (also known as swelling) in various body parts including the hands, feet, face and airway. Patients may also have excruciating abdominal pain, nausea and vomiting caused by swelling in the intestinal wall.
Airway swelling is very dangerous and can be potentially life threatening.
For more information on HAE you can visit the HAE International’s website by clicking the button below!