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Hereditary angioedema

Other Names for this Disease
  • Angioedema, hereditary
  • Deficiency of C1 esterase inhibitor
  • HAE
  • HANE
  • Hereditary angioedema type 1
More Names
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What is hereditary angioedema?

What are the symptoms of hereditary angioedema?

How might hereditary angioedema be treated?

What is hereditary angioedema?

Hereditary angioedema (HAE) is an immune disorder characterized by recurrent episodes of severe swelling. The most commonly affected areas of the body are the limbs, face, intestinal tract, and airway.[1] HAE is caused by low levels or improper function of a protein called C1 inhibitor which affects the blood vessels.[2] This condition is inherited in an autosomal dominant pattern.[1]

There are three types of HAE, types I, II, and III. The types can be distinguished by their underlying causes and levels of C1 inhibitor in the blood. Type I and II are caused by mutations in the SERPING1 gene. Some cases of type III are associated with mutations in the F12 gene. Other genes are likely to be identified as the cause of other cases of HAE type III.[1]
Last updated: 5/25/2011

What are the symptoms of hereditary angioedema?

Hereditary angioedema is characterized by recurrent episodes of severe swelling (angioedema). The most commonly involved areas of the body are the limbs, face, intestinal tract, and airway. While minor trauma or stress may trigger an attack, swelling often occurs without a known trigger. Episodes involving the intestinal tract cause severe abdominal pain, nausea, and vomiting. Swelling in the airway can restrict breathing and lead to life-threatening obstruction of the airway. About one-third of people with this condition develop a non-itchy rash called erythema marginatum during an attack.[1]

Symptoms of hereditary angioedema typically begin in childhood and worsen during puberty. Untreated individuals may have an attack every 1 to 2 weeks. Most episodes last 3 to 4 days. The frequency and duration of attacks vary greatly among individuals with hereditary angioedema, even among those in the same family.[1]

Last updated: 1/24/2011

How might hereditary angioedema be treated?

Medical treatment of hereditary angioedema (HAE) consists of preventing attacks and managing acute attacks once they occur. During attacks, patients may require respiratory support. They also may require large amounts of intravenous fluids to maintain hemodynamic stability.[3]

Until recently, no effective agent for acute attacks existed in the United States. Now, however, several agents have been approved, and others are in the midst of the U.S. Food and Drug Administration (FDA) approval process.[3]

In October 2008, the US FDA approved the use of C1-INH (Cinryze) for prophylaxis to prevent attacks. In October 2009, the FDA approved C1-INH (Berinert) for the treatment of acute abdominal and facial angioedema attacks in adolescents and adults with HAE. In December 2009, ecallantide (Kalbitor), a kallikrein inhibitor, was approved for the treatment of acute attacks.[3][4]  In August 2011, the FDA approved Firazyr (icatibant) Injection for the treatment of acute attacks in people ages 18 years and older.  Firazyr can be self-administered through an injection in the abdominal area so patients can treat themselves when they realize they are having an  HAE attack.[5]

An article from the eMedicine Journal provides more detailed information on these medications and other methods of treating HAE at the following link. You may need to register to view the article, but registration is free. 

The US Hereditary Angioedema Association also provides additional information about treatment of HAE.

Orphanet, a database dedicated to information on rare diseases and orphan drugs, provides guidelines regarding emergency management of hereditary angioedema at the following link.

Last updated: 11/11/2011

  1. Hereditary angioedema. Genetics Home Reference (GHR). 2009; Accessed 1/24/2011.
  2. Dugdale DC, Henochowicz SI. Hereditary angioedema. MedlinePlus. 2010; Accessed 1/24/2011.
  3. Frank MM. Hereditary Angioedema: Treatment & Medication. eMedicine. 2010; Accessed 1/24/2011.
  4. HAE Treatments. US Hereditary Angioedema Association. Accessed 1/24/2011.
  5. FDA News Release. U.S. Food and Drug Administration. August 25, 2011; Accessed 11/11/2011.