What is hereditary angioedema?
By Associate Professor Alberto Pinzon Charry
Paediatric allergist and immunologist in Woolloongabba, Brisbane
Most swelling in children is caused by common things like allergies, insect bites or infections. But in rare cases, repeated episodes of swelling may be caused by a condition called hereditary angioedema (HAE).
Because HAE is uncommon and can sometimes look similar to allergic reactions, many families have never heard of it before diagnosis.
What is hereditary angioedema?
Hereditary angioedema is a rare genetic condition that causes episodes of swelling in different parts of the body. The swelling happens because of a problem with how the body regulates inflammation and fluid leakage from blood vessels.
Unlike typical allergic swelling, HAE:
- is not caused by food allergies
- does not usually cause hives
- does not respond well to antihistamines or allergy medications.
What symptoms can HAE cause?
Symptoms can vary from person to person, but episodes of swelling commonly affect:
- the hands and feet
- face or lips
- stomach and intestines
- airways and throat.
Some children experience severe abdominal pain, nausea or vomiting during attacks, which can sometimes be mistaken for gastroenteritis or other stomach conditions.
Swelling episodes often develop gradually over several hours and may last for a few days before improving.
Why can HAE be serious?
Swelling affecting the throat or airways can become a medical emergency. Although HAE is rare, recognising symptoms early is important so families can access appropriate treatment and management.
Is hereditary angioedema inherited?
As the name suggests, hereditary angioedema is usually passed down through families.
Often, there is a family history of unexplained swelling, recurrent abdominal pain, or episodes of airway swelling. However, some children may be the first person in their family diagnosed with the condition
How is HAE diagnosed?
Diagnosis usually involves:
- a detailed medical history
- family history
- specialised blood tests.
Because HAE is uncommon, diagnosis can sometimes take time, particularly if symptoms are mistaken for allergies or other conditions.
How is hereditary angioedema managed?
While there is currently no cure for HAE, effective treatments are available to help manage attacks, reduce symptom severity and prevent future episodes. Management plans are tailored to each child and family, depending on symptoms and frequency of attacks.
The reassuring news
Although hereditary angioedema is a lifelong condition, many children and adults with HAE live active, healthy lives with the right diagnosis, treatment and support.
For families experiencing recurrent unexplained swelling, getting answers can make an enormous difference. If hereditary angioedema is suspected, children are usually referred to a paediatric allergist and immunologist for further assessment and specialised testing.
