Hereditary Angioedema: The Importance of Clinical Suspicion and Proper Treatment
DOI:
https://doi.org/10.24950/rspmi/CC/146/1/2018Keywords:
Angioedemas, Hereditary, Complement C1 Inhibitor Protein, IcatibantAbstract
Hereditary angioedema (HAE) is a syndrome characterized
by episodic swelling of subcutaneous and submucosal tissues, due to a deficiency or dysfunctionality in functional
C1 esterase inhibitor (C1-inh). The authors present a case
of a 40 year-old man with a positive family history of HAE,
recurrent episodes of abdominal pain, nausea and vomiting.
The immunological study revealed low levels of C1-inh and
C4 and normal levels of C1q. Acquired angioedema was
excluded, making the diagnosis of type 1 HAE. The patient
presented several times to the emergency department with
severe abdominal pain, diffuse abdominal tenderness with
guarding. However, laboratory and imagiologic studies had
no alterations. A subcutaneous injection of icatibant was administered with resolution of symptoms. HAE is a rare and
potentially fatal disease, mainly during acute attacks. An early diagnosis and a proper treatment are fundamental.
Downloads
References
Viegas LP, Ferreira MB, Santos AS, Barbosa MP. Angioedema hereditário: Experiência com icatibant em crises graves. Rev Port Imunoalergol. 2012;20:128-38.
Lumry WR. Overview of epidemiology, pathophysiology, and disease progression in hereditary angioedema. Am J Manag Care. 2013;19:103-10.
Gompels MM, Lock RJ, Abinun M, Bethune CA, Davies G, Grattan C, et al. C1 inhibitor deficiency: consensus document. Clin Exp Immunol. 2005;139:379-94.
Bowen T, Cicardi M, Farkas H, Bork K, Longhurst HJ, Zuraw B, et al. 2010 International consensus algorithm for the diagnosis, therapy and management of hereditary angioedema.Allergy Asthma Clin Immunol. 2010 ;6:24.
Zuraw BL. Hereditary Angioedema. N Engl J Med. 2008;359:1027-36.
UC N, E F, WJ T. Hereditary angioedema: a broad review for clinicians. Arch Intern Med. 2001;161:2417-29.
Cicardi M, Zingale L. How do we treat patients with hereditary angioedema. Transfus Apher Sci. 2003;29:221-7.
Katelaris C, Smith W, Wong M, Jordan A. Position paper on hereditary angioedema (HAE). Australas Soc Clin Immunol Allergy. 2017:1-44.
Cadinha S, Castel-Branco MdG, Malheiro D, Lopes I. Protocolo de diagnóstico, tratamento e seguimento de doentes com angioedema hereditário. Rev Port Imunoalergol. 2005;13:377-93.
Agostoni A, Aygoren-Pursun E, Binkley KE, Blanch A, Bork K, Bouillet L, et al. Hereditary and acquired angioedema: Problems and progress: Proceedings of the third C1 esterase inhibitor deficiency workshop and beyond. J Allergy Clin Immunol. 2004;114:51-131.
Downloads
Published
How to Cite
Issue
Section
License
This work is licensed under a Creative Commons Attribution 4.0 International License.
Copyright (c) 2023 Medicina Interna
Open Access
