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Hereditary angioedema type 1

Disease definition

A form of hereditary angioedema characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.

ORPHA:100050

Classification level: Subtype of disorder
  • Synonym(s):
    • HAE 1
    • HAE-I
    • Hereditary angioneurotic edema type 1
  • Prevalence: 1-9 / 100 000
  • 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 but HAE type 1 is the most common form of HAE accounting for 85% of the cases and is seen equally in males and females.

Clinical description

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

Etiology

It is caused by a missence mutation in the SERPING1 gene encoding the C1 inhibitor (C1-INH). These mutations cause C1-INH levels to decrease 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.