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Allergy, Asthma & Clinical Immunology
Published in: Allergy, Asthma & Clinical Immunology 1/2014

Open Access 01-12-2014 | Research

Examination of genetic variants involved in generation and biodisposition of kinins in patients with angioedema

Authors: Jonathan Levy, Georges-Etienne Rivard, Eric Wagner, Don Beezhold, Noam Berlin, Li Fan, Zhao Zhang, Gordon L Sussman

Published in: Allergy, Asthma & Clinical Immunology | Issue 1/2014

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Abstract

Background

Angioedema (AE) is idiopathic in the majority of cases. We studied patients with AE for genetic variants of proteins involved with bradykinin generation and biodisposition.

Methods

One hundred sixty one patients with AE were recruited at a university hospital clinic. Patients were categorized according to the proposed pathogenesis of AE: low C1 inhibitor (C1-INH) and C4 levels, autoimmune disease, cancer, angiotensin-converting enzyme (ACE) inhibitor-induced, nonsteroidal antiinflammatory drug (NSAID)-induced, or idiopathic. In addition, each patient had a blood sample analyzed for a complement profile and enzymes (C1-INH and C4). Fifty-two of the patients were tested for genetic variants in factor XII, plasminogen-activator inhibitor-1 (PAI-1), ACE, and aminopeptidase P (APP).

Results

The cause of angioedema was identified in 59/161 (37%) of the cases: 3 (2%) patients had a low plasma C1-INH and C4; 20 (12%) were ACE inhibitor-induced; 12 (7%) were associated with autoimmune disorders; 7 (4%) were associated with malignancy; and 17 (11%) were associated with NSAIDs. In the remaining 102 (63%) patients the cause of angioedema was idiopathic. Of 52 patients with genetic analysis, 13 (25%) had a genetic variant in APP, 10 (19%) in ACE, 13 (25%) in PAI-1, and 0 in Factor XII.

Conclusions

In addition to related diseases and medications causing AE, certain genetic variants encoding proteins involved in bradykinin generation and/or catabolism pathways may be involved in the pathogenesis of AE.
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Metadata
Title
Examination of genetic variants involved in generation and biodisposition of kinins in patients with angioedema
Authors
Jonathan Levy
Georges-Etienne Rivard
Eric Wagner
Don Beezhold
Noam Berlin
Li Fan
Zhao Zhang
Gordon L Sussman
Publication date
01-12-2014
Publisher
BioMed Central
Published in
Allergy, Asthma & Clinical Immunology / Issue 1/2014
Electronic ISSN: 1710-1492
DOI
https://doi.org/10.1186/s13223-014-0060-y

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