Hereditary angioedema: a clinical review for the otolaryngologist.

Ear Nose Throat J

Department of Otolaryngology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.

Published: January 2011

AI Article Synopsis

  • Hereditary angioedema (HAE) is a rare genetic disorder that involves low or dysfunctional levels of C1 esterase inhibitor, leading to episodes of swelling that can be mild or life-threatening due to potential airway blockage.
  • Accurate diagnosis in emergencies is challenging, as HAE must be differentiated from other forms of angioedema that require different treatments.
  • Management includes avoiding triggers and using medications, with new treatments like C1-INH now available, highlighting the importance of considering HAE as a potential diagnosis in cases of unexplained angioedema.

Article Abstract

Hereditary angioedema (HAE) is a relatively rare genetic disorder that is usually characterized by either low levels of C1 esterase inhibitor (C1-INH) or the presence of dysfunctional C1-INH. It can present with relatively mild and self-limiting symptoms, but it is also potentially fatal; the most common cause of death is asphyxiation secondary to edema of the upper airway. The diagnosis of HAE, especially in the emergency situation, is not straightforward. HAE must be distinguished from several other types of angioedema that require different management approaches. Management approaches include trigger avoidance and pharmacologic therapy; the latter has traditionally involved the administration of attenuated androgens and antifibrinolytics. Recently, a new class of agent-C1-INH-has been introduced in the United States. This article provides an update on the pathophysiology, clinical picture, diagnosis, prophylaxis, and acute treatment of HAE. We must keep HAE in mind as a possible diagnosis whenever we are faced with a case of unexplained angioedema if we are to take advantage of the effective and more specific therapies that are becoming available.

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Source
http://dx.doi.org/10.1177/014556131109000822DOI Listing

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