Hereditary angioedema

Hereditary angioedema is episodic and asymptomatic in most patients. There are 2 types of the disorder. In type I, representing 85% of patients, serum levels of C1NH are less than 35%. In type II, the levels are normal or elevated, but the protein is nonfunctional. The two types are clinically similar.

Alternative names

HANE

HAE

Angioneurotic edema, hereditary

C1 esterase inhibitor deficiency

C1 inhibitor deficiency

Hereditary angioedema type I and type II

Quinke's disease

Classification

  • Defects of complement regulatory proteins
    • Hereditary angioedema

Inheritance

Autosomal dominant

OMIM

#106100 Angioedema, hereditary; HAE

*606860 Angioedema, hereditary; HAE

Cross references

Phenotypically related immunodeficiencies

Incidence

1:50,000-150,000