Other Names for this Disease
- Angioedema, hereditary
- Deficiency of C1 esterase inhibitor
- Hereditary angioedema type 1
What are the symptoms of hereditary angioedema?
How might hereditary angioedema be treated?
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.
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.
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.
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. 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.
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.
- Hereditary angioedema. Genetics Home Reference (GHR). 2009; http://ghr.nlm.nih.gov/condition/hereditary-angioedema. Accessed 1/24/2011.
- Dugdale DC, Henochowicz SI. Hereditary angioedema. MedlinePlus. 2010; http://www.nlm.nih.gov/medlineplus/ency/article/001456.htm. Accessed 1/24/2011.
- Frank MM. Hereditary Angioedema: Treatment & Medication. eMedicine. 2010; http://emedicine.medscape.com/article/135604-treatment. Accessed 1/24/2011.
- HAE Treatments. US Hereditary Angioedema Association. http://www.haea.org/treating-hae/treatments/. Accessed 1/24/2011.
- FDA News Release. U.S. Food and Drug Administration. August 25, 2011; http://www.fda.gov/NewsEvents/Newsroom/PressAnnouncements/ucm269616.htm. Accessed 11/11/2011.