Skip to Accessibility Menu Skip to Login Skip to Content Skip to Footer

Hereditary Angioedema

What is Hereditary Angioedema?

Hereditary angioedema is a disorder that leads to recurring periods of severe swelling. The swelling usually occurs in the arms, legs, face, gut, and airway. Stress or a minor injury may trigger swelling, but more often there is no known trigger.(1) 

If the swelling occurs in the intestines, it causes severe pain, nausea, and vomiting. Swelling in the airways makes it hard to breathe and may lead to death. About 1 in 3 people with hereditary angioedema develop a rash that does not itch. This rash is called erythema marginatum.(1,2) 

Hereditary angioedema usually begins in childhood. There are 3 types. Mutations in the SERPING1 gene cause types 1 and 2. Mutations in the F12 gene are linked to some cases of type 3.(1,3)

Other condition names

  • Hereditary angioneurotic edema
  • C1-INH
  • C1NH
  • Complement component 1 inhibitor deficiency
  • Complement component C1, regulatory component deficiency
  • Esterase inhibitor deficiency
  • HAE
  • HANE

Inheritance type

Autosomal dominant, idiopathic

Prevalence

  • United States: Approximately 1 in 50,000

Age of Onset

  • Childhood or puberty

1. Hereditary angioedema. MedlinePlus. Available at https://medlineplus.gov/genetics/condition/hereditary-angioedema. Accessed 5/31/2023.

2. Zuraw B, Farkas H. Hereditary angioedema: Epidemiology, clinical manifestations, exacerbating factors, and prognosis. UpToDate. Available at https://www.uptodate.com/contents/hereditary-angioedema-epidemiology-clinical-manifestations-exacerbating-factors-and-prognosis. Accessed 6/6/2023.

3. Hereditary angioedema. National Organization for Rare Disorders. Available at https://rarediseases.org/rare-diseases/hereditary-angioedema. Accessed 5/31/2023.