Page 70 - GPD-3-1

Gene & Protein in Disease

CASE REPORT
Hereditary angioedema: A case report

Youssef Bouzoubaa, Hamza Benghaleb*, Walid Bijou, Youssef Oukessou,
Sami Rouadi, Redallah Abada, Mohamed Roubal, and Mohamed Mahtar
Department of Otorhinolaryngology and Head and Neck Surgery, Faculty of Medicine and Pharmacy, Ibn
Rochd University Hospital, Hassan II University of Casablanca, Casablanca, Morocco

Abstract

Angioneurotic edema (ANE) is a frequently encountered presentation in the
emergency department. This condition manifests itself as sudden, unpredictable
episodes of edema in cutaneous and mucosal tissues, commonly affecting the eyes,
oral cavity, lips, and larynx. It is crucial to acknowledge that ANE is a component of
a range of allergic manifestations, often associated with urticaria and occasionally
of non-allergic origin. In some cases, this condition can lead to laryngeal edema,
causing airway obstruction and potentially fatal consequences if not diagnosed in
a timely manner. After 2007, the term ANE was replaced by the term angioedema
(AE) in the literature for its conciseness and wider recognition. The purpose of this
comprehensive article is to present a detailed analysis of a clinical case involving a
75-year-old patient diagnosed with AE, accompanied by a thorough examination
of relevant literature that has significantly contributed to our understanding of this
complex medical condition.

Keywords: Angioedema; Larynx; Facial; Treatment

*Corresponding author:
Hamza Benghaleb
(hamza.gus7@gmail.com) 1. Introduction
Citation: Bouzoubaa Y, Angioneurotic edema (ANE), also known as Quincke’s disease, is a medical condition
Benghaleb H, Bijou W, et al.
Hereditary angioedema: A case that poses a potential threat to one’s life. It is characterized by localized swelling in the
report. Gene Protein Dis. subcutaneous and submucosal tissues of both the upper respiratory and gastrointestinal
2024;3(1):2665. tracts. After 2007, the term ANE was replaced by the term angioedema (AE) in the
1
https://doi.org/10.36922/gpd.2665
literature for its conciseness and wider recognition. It is important to note that AE can
2
Received: January 7, 2024 be categorized into two distinct types: allergic AE and non-allergic AE. Furthermore,
3
Accepted: February 23, 2024
Published Online: March 25, 2024 non-allergic AE may be further subdivided into various subtypes, such as hereditary
AE (HAE), acquired AE (AAE), drug-induced AE, and idiopathic AE. Hereditary
Copyright: © 2024 Author(s).
This is an Open-Access article angioedema is a condition that can be inherited and is caused by mutations in genes
3,4
distributed under the terms of the that affect the production of C1-inhibitor. In the United States, ANE has a lifetime
Creative Commons Attribution prevalence rate of approximately 25%, resulting in over one million emergency
License, permitting distribution, 5
and reproduction in any medium, department visits on a yearly basis. It is worth mentioning that the majority of cases
provided the original work is (approximately 90%) can be attributed to allergic reactions, which are characterized
properly cited. by a rapid type 1 hypersensitivity response that activates mast cells and basophils. On
Publisher’s Note: AccScience the contrary, non-allergic AE, mediated by bradykinin inhibition, often presents with
Publishing remains neutral with a delayed onset, taking hours to days to manifest after exposure, and in some cases,
regard to jurisdictional claims in 6
published maps and institutional it may even take several months to become apparent. The excessive production of
affiliations. bradykinin, a potent vasodilatory mediator, contributes to the swelling of the mucosa
Volume 3 Issue 1 (2024) 1 https://doi.org/10.36922/gpd.2665