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Hereditary angioedema with normal C1 inhibitor
1Department of Dermatology, Johannes Gutenberg University, Langenbeckstr. 1, 55131 Mainz, Germany.
Immunology and Allergy Clinics of North America
|November 2, 2013
Summary
Hereditary angioedema is not solely caused by C1 inhibitor deficiency. New forms involve normal C1 inhibitor levels, with estrogen-containing therapies and pregnancies potentially triggering symptoms in women.
Area of Science:
- Immunology
- Genetics
- Hematology
Background:
- Hereditary angioedema (HAE) was traditionally linked exclusively to C1 inhibitor deficiency.
- Recent findings reveal HAE subtypes with normal C1 inhibitor activity and protein levels.
Purpose of the Study:
- To investigate the emerging understanding of hereditary angioedema beyond C1 inhibitor deficiency.
- To identify potential triggers and genetic factors in HAE patients with normal C1 inhibitor levels.
Main Methods:
- Case reporting and family studies of hereditary angioedema patients.
- Analysis of patient histories for triggers such as hormonal therapies and pregnancy.
- Genetic analysis, including screening for mutations in the coagulation factor XII gene.
Main Results:
- Numerous families with HAE and normal C1 inhibitor levels have been identified since 2000.
- A majority of affected individuals in these families are women.
- Estrogen-containing therapies (oral contraceptives, hormone replacement) and pregnancy frequently trigger HAE symptoms in these women.
- Mutations in the coagulation factor XII (Hageman factor) gene were identified in some HAE families with normal C1 inhibitor levels.
Conclusions:
- Hereditary angioedema encompasses subtypes not solely dependent on C1 inhibitor deficiency.
- Hormonal factors, particularly estrogen exposure, play a significant role in symptom manifestation in some HAE patients.
- Genetic variations, such as in the factor XII gene, contribute to the pathophysiology of certain HAE forms.
Keywords:
Coagulation factor XIIHereditary angioedema type IIIHereditary angioedema with normal C1 inhibitorKallikrein-kinin pathwayMutations in the F12 geneMore Related Videos
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