Hereditary Angioedema

Hereditary Angioedema (HAE) is a rare hereditary disease that can cause attacks of swelling, and often pain, in specific parts of the body including the stomach, hands, feet, arms, legs, genitals, throat, and face. Depending on the severity of the disease, some people will have many attacks each month, while others will go months without an attack.
With the right medication, HAE-related swelling can be treated quickly and effectively. People with HAE have no or low levels of a protein called C1 esterase inhibitor (C1-inh). In some cases, C1-inh levels are high enough, but the protein’s function is impaired. The C1-inh defect is embedded in the genetic code. This means that, in most cases, hereditary angioedema is an inherited disease. New mutations do occur, but these are rarer. In this case, the genetic defect presents in the affected person for the first time and does not run in the family. Hereditary angioedema (HAE) is essentially divided into two types. People with a low C1-inh level in the body have type I HAE. If C1-inh does not function properly, it is type II HAE. Now, however, a new, extremely rare form with normal C1 inhibitor function has also been discovered.