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F12-related hereditary angioedema with normal C1Inh

Disease definition

Hereditary angioedema type 3 (HAE 3) is a form of hereditary angioedema (see this term) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.

ORPHA:100054

Classification level: Subtype of disorder
  • Synonym(s):
    • F12-related HAE with normal C1 inhibitor
    • HAE 3
    • HAE-III
    • Hereditary angioedema type 3
    • Hereditary angioneurotic edema type 3
    • Inherited estrogen-associated angioedema
    • Inherited estrogen-associated angioneurotic edema
    • Inherited estrogen-dependent angioedema
    • Inherited estrogen-dependent angioneurotic edema
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: Adult
  • ICD-10: T78.3
  • OMIM: 610618
  • UMLS: C1960459
  • MeSH: D056828
  • GARD: -
  • MedDRA: -

Summary

Epidemiology

Prevalence is unknown as there have been very few reported cases (occurring mostly in individuals of French, German and British descent).

Clinical description

Contrary to HAE types 1 and 2, HAE type 3 occurs mainly in women and attacks are often associated with increased estrogen levels (pregnancy, oral contraception, hormonal replacement therapy).

Etiology

It may be caused by a gain of function mutation in the F12 gene, encoding the coagulation factor 12 (Hageman factor). These mutations cause an increase in factor 12 activity (while C1 inhibitor serum levels and C1 activity remain normal) leading to an increase in bradykinin formation.

Management and treatment

There is no licensed treatment for HAE 3 but bradykinin receptor antagonists and C1-INH concentrate have been successful in several cases. Prophylaxis with tranexamic acid is more likely to prove effective than danazol.

Expert reviewer(s):  Pr Laurence BOUILLET - Last update: May 2013

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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.