• Fabry Disease
• HAE (Hereditary Angioedema)
• MLD (Metachromatic Leukodystrophy)
• Sanfilippo Syndrome (MPS III)

• Hereditary Angioedema
  • Overview
  • Disease Process
  • Signs and Symptoms
  • Other Types of Angioedema
  • Diagnosis
  • Inheritance
  • Management
• Personal Stories
• News Articles
• Resources

Inheritance of Hereditary AngioedemaNext Topic

The prevalence of HAE has been estimated to be between 1 in 10,000 to 1 in 50,000 people. The majority of people with HAE inherit a C1-INH defect from one of their parents. A parent with HAE has a 50% probability of passing the condition on to a child of either sex. In some patients, HAE is not inherited and results from new spontaneous mutation in the sperm or egg cell that created their specific pregnancy. In one analysis of patients without a family history of HAE, but with low levels of C1-INH and recurrent angioedema, 25% of newly diagnosed patients with HAE had C1-INH mutations that were new rather than inherited.

Figure 2: Inheritance Pattern of HAE: Autosomal Dominant

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