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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
- OMIM: 106100
- UMLS: C0398775 C2717906
- MeSH: C538577
- 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.
Detailed information
Article for general public
Professionals
- Summary information
- Greek (2011, pdf)
- Polski (2011, pdf)
- Emergency guidelines
- Español (2017, pdf)
- Français (2021, pdf)
- English (2009, pdf)
- Italiano (2009, pdf)
- Português (2009, pdf)
- Review article
- English (2012)
- Clinical practice guidelines
- English (2010, pdf)
- Français (2021)
- Disability factsheet
- Français (2018, pdf)
Additional information