Genetic analysis and etiology of angioedema

Details

• Personal Author:
  Beezhold, Donald H. ; Berlin N ; Fan L ; Levy J ; Rivard G-E ; Sussman GL ; Wagner E ; Beezhold, Donald H. ; Berlin N ; Fan L ; Levy J ; Rivard G-E ; Sussman GL ; Wagner E
• Description:
  Rationale: Angioedema (AE) without urticaria is idiopathic in the majority of cases. We studied patients with AE by genetic analysis for novel mutations of proteins interacting with the bradykinin pathway. Methods: 126 patients with AE were recruited at a university hospital clinic. Patients were categorized according the proposed pathogenesis of AE: C1 inhibitor deficiency and low C4 levels, autoimmune disease, malignant cancer, angiotensin-converting enzyme (ACE) inhibitor-induced, nonsteroidal anti-inflammatory drug (NSAID)-induced, or idiopathic. In addition, each patient had a blood sample analyzed for a complement profile and enzymes (antigenic and functional C1 inhibitor, C3, C4, CH 50), and immunologic parameters. A subset of 52 patients was tested for specific mutations in factor XII, plasminogen-activator inhibitor-1 (PAI-1), ACE, and aminopeptidase P (APP). Results: The cause of angioedema was identified in 52 (41%) of the cases: 3 (2%) patients had a low plasma C1 inhibitor and C4; 18 (14%) were ACE inhibitor-induced; 10 (8%) were due to autoimmune disorders; 5 (4%) were associated with malignancy; and 16 (13%) were due to NSAIDs. In the remaining 74 (59%) patients the cause of angioedema was idiopathic. In those with genetic analysis 13 (25%) had a specific genetic variant in APP, 10 (19%) in ACE, 13 (25%) in PAI, and 0 in Factor XII. Conclusions: In addition to related diseases and medications causing AE, certain genetic variants encoding proteins in the bradykinin generation and/or catabolism pathways may be implicit in the pathogenesis of AE. Further studies are ongoing. [Description provided by NIOSH]
• Subjects:
  Blood Enzymes Genetics Hematologic Tests Men Neoplasms Occupational Health Safety Women
• Keywords:
  Analytical-processes Autoimmunity Blood-analysis Blood-samples Cancer Catabolism Enzyme-inhibitors Humans Malignancy Mutation Pathogenesis Proteins Statistical-analysis Urticaria

  More +
• ISSN:
  0091-6749
• Document Type:
  Text
• Genre:
  Abstract or Summary ; Abstract or Summary
• Place as Subject:
  OSHA Region 3 ; West Virginia
• CIO:
  National Institute for Occupational Safety and Health (NIOSH) ; National Institute for Occupational Safety and Health (NIOSH)
• Division:
  HELD - Health Effects Laboratory Division ; HELD - Health Effects Laboratory Division
• Topic:
  Workplace Safety & Health ; Workplace Safety & Health
• Location:
  North America ; North America
• Volume:
  131
• Issue:
  2
• NIOSHTIC Number:
  nn:20042454
• Citation:
  J Allergy Clin Immunol 2013 Feb; 131(2)(Suppl):AB57
• Federal Fiscal Year:
  2013
• Peer Reviewed:
  False
• Source Full Name:
  Journal of Allergy and Clinical Immunology
• Supplement:
  Suppl
• Collection(s):
  National Institute for Occupational Safety and Health
• Main Document Checksum:
  urn:sha-512:7dfb9224ba74b587ebca7c250cac510ff23940b2dfdadeb1db6b4fea2bd427584ec78d661e833f74763ce9dee2be828edb3b75a696296cb1ea04abeb7791df24
• Download URL:
  https://stacks.cdc.gov/view/cdc/194677/cdc_194677_DS1.pdf
• File Type:
  [PDF - 37.40 KB ]