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F12-related hereditary angioedema with normal C1Inh
A rare hereditary angioedema characterized by normal serum levels and function of C1 inhibitor, normal C1 activity, and, clinically, recurrent subcutaneous edema, abdominal pain attacks, and episodes of potentially life-threatening upper airway obstruction. The disorder occurs almost exclusively in women, and episodes are often precipitated or worsened by high estrogen levels (such as during pregnancy or treatment with oral contraceptives).
ORPHA:100054
Classification level: Subtype of disorder
- Inherited estrogen-associated angioneurotic edema
- Inherited estrogen-dependent angioedema
- Inherited estrogen-dependent angioneurotic edema
- HAE 3
- HAE-III
- Hereditary angioneurotic edema type 3
- Inherited estrogen-associated angioedema
- Hereditary angioedema type 3
- F12-related HAE with normal C1 inhibitor
Source: PubMed ID 29128335
Prevalence: Unknown
Inheritance: Autosomal dominant
Age of onset: Adult
: produced/endorsed by ERN(s)
: produced/endorsed by FSMR(s)
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