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Hereditary angioedema type 3

ORPHA100054
Synonym(s) HAE 3
HAE-III
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
  • D84.1
OMIM
UMLS
  • C1857728
  • C1960459
MeSH
  • D056828
MedDRA -

Summary

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.

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

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).

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.

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

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Detailed information

Summary information
Emergency guidelines
  • EN (2009,pdf)
  • ES (2009,pdf)
  • IT (2009,pdf)
  • FR (2009,pdf)
  • PT (2009,pdf)
Clinical practice guidelines
  • EN (2010,pdf)
Article for general public
  • EN (2011)
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