How Is Hereditary Angioedema Treated?

Hereditary angioedema (HAE) is a rare disorder in which a person has recurring, severe swelling. This swelling takes place in the arms, legs, intestines (gut), airways, and face.¹

HAE can be painful. It can cause nausea and vomiting when swelling takes place in the stomach area. When swelling occurs in the airways, it can cause breathing problems and be life-threatening. About 1 in 3 people also develop a non-itchy rash.^1,2

Symptoms usually begin in childhood and get worse in the teen years. Attacks may be triggered by minor surgery, dental work, or stress.^1,3

Without treatment, people with HAE average an attack every 1 to 2 weeks, with each attack lasting 3 to 4 days. How often attacks take place and how long they last varies widely between people, even within the same family.^1,3

What causes hereditary angioedema?

Hereditary angioedema is an autosomal dominant disease. This means that a person needs to inherit only 1 gene, from their mother or their father, to develop the condition.^1,3

HAE has 3 types. Types 1 and 2 are caused by changes (mutations) in the SERPING1 gene. These mutations lead to low levels or poor functioning of the protein C1 inhibitor in the blood. C1 inhibitors help control inflammation in the body. Most people with HAE, about 85 percent, have type 1.^1,3

Some people with type 3 have a mutation in the F12 gene. The F12 gene plays a role in blood clotting and stimulates inflammation. Experts do not know what causes other types of type 3.^1,3

Who gets hereditary angioedema?

The National Organization for Rare Disorders estimates that between 50,000 and 150,000 people worldwide have HAE. All genders are affected equally. The condition usually begins in childhood.³

Medicines for hereditary angioedema and its complications

There are several treatments approved by the U.S. Food and Drug Administration (FDA) to treat hereditary angioedema. These include:³

• Cinryze® (C1 esterase inhibitor) to prevent HAE attacks
• Berinert® (C1 esterase inhibitor) for swelling in the intestines, face, or throat
• Kalbitor® (ecallantide) to treat sudden, life-threatening fluid buildup related to HAE
• Ruconest® (C1 esterase inhibitor [recombinant]) for sudden or severe attacks
• Haegarda® (C1 esterase inhibitor subcutaneous [human]) to prevent HAE attacks
• Orladeyo® (berotralstat) to prevent HAE attacks

Only some of these treatments are approved for use in children.³

Other treatments

People with HAE may need short-term treatment before having surgery or dental work done.³

If airway swelling is severe and a person is having trouble breathing, doctors may create a small opening in the throat called a tracheotomy. A tracheotomy is usually temporary. The person may also be given oxygen.³