x

Search for a rare disease

* (*) mandatory field

Other search option(s)

Suggest an update

(*) Required fields.

Attention

Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Orphanet doesn't provide personalised answers. To get in touch with the Orphanet team, please contact

Information provided in your contribution (including your email address) will be stocked in .CSV files that will be sent as an email to Orphanet's teams. These emails might be conserved in the teams' mailboxes, in our backoffice servers but will not be registered in our databases (for more information see our section General Data Protection Regulation and data privacy (GDPR) and Confidentiality).

Captcha image

Hereditary angioedema type 2

Disease definition

Hereditary angioedema type 2 (HAE 2) is a form of hereditary angioedema (see this term) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.

ORPHA:100051

Classification level: Subtype of disorder
  • Synonym(s):
    • HAE 2
    • HAE-II
    • Hereditary angioneurotic edema type 2
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: All ages
  • ICD-10: D84.1
  • ICD-11: 4A00.14
  • OMIM: 106100
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Summary

Epidemiology

Prevalence is unknown. HAE 2 is the less common form of HAE, accounting for 15% of HAE cases and is seen equally in men and women.

Clinical description

Like HAE 1 and 3 (see these terms) it occurs generally in childhood with symptoms becoming more severe in adolescence. Precipitating factors of HAE 2 thought to trigger attacks include: trauma, anxiety, puberty, infection, alcohol consumption, exercise and stress.

Etiology

It is caused by deletions, frameshift or splice mutations in the SERPING1 gene encoding the C1 inhibitor (C1-INH). These mutations cause a decrease in C1-INH activity (while C1 inhibitor serum levels remain normal) leading to an increase in bradykinin formation.

Management and treatment

Treatment usually consists of intravenous C1 inhibitor concentrate or subcutaneous administration of the orphan drug icatibant (bradykinin receptor antagonist). Prophylaxis with danazol is often given before surgical procedures.

Expert reviewer(s):  Pr Laurence BOUILLET - Last update: August 2011

  A summary on this disease is available in Deutsch (2011) Español (2011) Français (2011) Italiano (2011) Nederlands (2011) Greek (2011, pdf) Polski (2011, pdf)

Detailed information

General public

Guidelines

Disease review articles

Disability

Clinical Outcome Assessment (COA)

  • Patient-Centered Outcome Measures (PCOMs)
  • English (2023) - PROQOLIDTM
ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

Newborn screening

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.