Hereditary angioedema-3 (HAE3) is a rare disorder characterized clinically by recurrent skin swelling, abdominal pain attacks, and potentially life-threatening upper airway obstruction. The disorder occurs almost exclusively in women and is often precipitated or worsened by high estrogen levels (e.g., during pregnancy or treatment with oral contraceptives). Both concentration and function of C1 inhibitor (C1NH; 606860) are normal (summary by Dewald and Bork, 2006).
For a discussion of genetic heterogeneity of HAE, see 106100. [from
OMIM]