Hereditary angioedema (HAE) is a rare inherited disorder that causes recurrent episodes of swelling beneath the skin and in the lining of the airways, digestive tract, and other parts of the body. Unlike allergic swelling, HAE is not caused by histamine and does not usually respond to antihistamines, corticosteroids, or epinephrine. Early diagnosis and access to appropriate treatment are essential because swelling of the throat can become life-threatening. Early diagnosis, individualized treatment, and regular follow-up with a specialist can help reduce attacks, prevent complications, and improve long-term quality of life.
HAE is a genetic condition that most commonly results from changes in the SERPING1 gene, leading to low levels or poor function of the C1 inhibitor (C1-INH) protein.
This causes excessive production of bradykinin, a substance that increases blood vessel permeability and leads to swelling.
The condition is inherited in an autosomal dominant pattern, although some cases occur because of new genetic changes.
Symptoms usually begin during childhood or adolescence and may include:
The location and severity of attacks vary between individuals.
Although attacks may occur without warning, possible triggers include:
Avoiding known triggers may help reduce the frequency of attacks.
Diagnosis typically includes:
Because symptoms can resemble other conditions, diagnosis may sometimes be delayed.
Treatment focuses on stopping acute attacks and preventing future episodes.
Depending on the individual's needs, treatment may include:
Treatment plans are individualized based on attack frequency, severity, and overall health.
Healthcare providers may recommend strategies such as:
These measures may help reduce the risk of severe attacks.
Long-term management often includes:
Many people with HAE are able to manage the condition effectively with appropriate therapy.
Immediate medical attention is required if swelling affects:
Emergency evaluation is also important if severe abdominal pain occurs or symptoms worsen rapidly.
Hereditary angioedema is a rare genetic disorder that causes recurrent episodes of swelling affecting the skin, digestive tract, and airways. Although the condition can be serious, advances in on-demand and preventive therapies have greatly improved disease management.