Recognition, Evaluation, and Management of Pediatric Hereditary Angioedema.
Journal
Pediatric emergency care
ISSN: 1535-1815
Titre abrégé: Pediatr Emerg Care
Pays: United States
ID NLM: 8507560
Informations de publication
Date de publication:
01 Apr 2021
01 Apr 2021
Historique:
entrez:
29
3
2021
pubmed:
30
3
2021
medline:
19
8
2021
Statut:
ppublish
Résumé
Hereditary angioedema (HAE) is a rare, often underrecognized genetic disorder caused by either a C1 esterase inhibitor deficiency (type 1) or mutation (type 2). This leads to overproduction of bradykinin resulting in vasodilation, vascular leakage, and transient nonpitting angioedema occurring most frequently in the face, neck, upper airway, abdomen, and/or extremities. Involvement of the tongue and laryngopharynx has been associated with asphyxiation and death. Hereditary angioedema is an autosomal-dominant condition; therefore, there is a 50% chance an offspring will inherit this disorder. Any patient presenting with isolated angioedema should be screened with a C4 measurement, as 25% of cases have no family history of HAE. All patients with HAE will have a functional deficiency of C1 esterase inhibitor. Contributors that delay the diagnosis of HAE include recognition delay by clinicians who confuse this condition with histaminergic angioedema, the disease's varied presentations, and limitations to timely testing. Pediatric emergency clinicians should be knowledgeable about how to distinguish between bradykinin- and histamine-mediated angioedema, as there are significant differences in the diagnostic testing, treatment, and clinical response between these 2 different conditions. Evidence indicates that early diagnosis and treatment of HAE reduces morbidity and mortality. Clinician recognition of the mechanistically different problems will ensure patients are appropriately referred to an expert for outpatient management.
Identifiants
pubmed: 33780405
doi: 10.1097/PEC.0000000000002402
pii: 00006565-202104000-00006
doi:
Substances chimiques
Complement C1 Inhibitor Protein
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
218-223Informations de copyright
Copyright © 2021 Wolters Kluwer Health, Inc. All rights reserved.
Déclaration de conflit d'intérêts
Lippincott CME Institute has identified and resolved all conflicts of interest concerning this educational activity.
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