Hereditary angioedema (HAE) is a rare, genetic disorder that results in recurring swelling in various parts of the body, most commonly the face, intestines, throat, and larynx. HAE is caused by a genetic defect that results in a deficiency of a protein called C1 esterase inhibitor. Without sufficient C1 esterase inhibitor protein, the body does not break down a substance called bradykinin, and it accumulates in the body and causes swelling.

HAE is a chronic condition that has no cure and typically presents itself in the form of episodes of severe swelling. The swelling can last anywhere from a few hours to more than five days, depending on the severity of the episode. The most common symptom of HAE is non-itchy swelling of the face and tongue that occurs in the majority of cases. Other possible symptoms include abdominal pain, nausea, vomiting, and diarrhea.

In addition to the physical symptoms, HAE can have a profound psychological impact. It can cause anxiety as well as depression due to the unpredictability of the episodes. Although it is a rare disorder, the symptoms can be debilitating and cause a person to miss days or even weeks of school or work.

In order to diagnose HAE, a doctor will first rule out other causes of swelling and then order a blood test to measure the levels of C1 esterase inhibitor protein. There are other tests used as well to determine if HAE is the cause of the symptoms.

Treatments for HAE include medications to reduce bradykinin, antibiotics to treat any bacterial infections that may be present, and hemodialysis to filter the blood of excess bradykinin. In some cases, a tracheostomy may also be necessary to clear the larynx if the swelling becomes severe enough to obstruct the airway. In extreme cases, a tracheostomy can even help reduce the severity of the swelling.

Although HAE is a life-altering disorder with no cure, with the right treatment and support, those who suffer from it can lead a relatively normal life. When diagnosed early and monitored closely, people with HAE can lead an active lifestyle and manage the symptoms. Thus, it is important to seek medical attention if any signs or symptoms of HAE are present.