Hereditary Angioedema

R Gentry Wilkerson; Joseph J Moellman

doi:10.1016/j.iac.2022.10.012

Hereditary Angioedema

Immunol Allergy Clin North Am. 2023 Aug;43(3):533-552. doi: 10.1016/j.iac.2022.10.012.

Authors

R Gentry Wilkerson¹, Joseph J Moellman²

Affiliations

¹ Department of Emergency Medicine, University of Maryland School of Medicine, 110 South Paca Street, 6th Floor, Suite 200, Baltimore, MD 21201, USA. Electronic address: gwilkerson@som.umaryland.edu.
² Department of Emergency Medicine, University of Cincinnati College of Medicine, 231 Albert Sabin Way, MSB 1654, Cincinnati, OH 45267-0769, USA. Electronic address: https://twitter.com/edmojo.

PMID: 37394258
DOI: 10.1016/j.iac.2022.10.012

Abstract

Hereditary angioedema (HAE) is a rare autosomal dominant genetic disorder that usual results from a decreased level of functional C1-INH and clinically manifests with intermittent attacks of swelling of the subcutaneous tissue or submucosal layers of the respiratory or gastrointestinal tracts. Laboratory studies and radiographic imaging have limited roles in evaluation of patients with acute attacks of HAE except when the diagnosis is uncertain and other processes must be ruled out. Treatment begins with assessment of the airway to determine the need for immediate intervention. Emergency physicians should understand the pathophysiology of HAE to help guide management decisions.

Keywords: Bradykinin; C1-inhibitor; Complement; Difficult airway; Hereditary angioedema; Quincke disease.

Publication types

Review

MeSH terms

Angioedemas, Hereditary* / diagnosis
Angioedemas, Hereditary* / etiology
Angioedemas, Hereditary* / therapy
Complement C1 Inhibitor Protein / genetics
Humans

Substances

Complement C1 Inhibitor Protein