Hereditary angioedema

Helen Lesser,Jason E Cohn

doi:10.1186/s12245-021-00364-7

Abstract

A 14-year-old African American female presented to the emergency department with spontaneous, sudden-onset lip swelling for 1 h. On examination, there was significant water-bag edema of the upper lip extending to the philtrum and premaxilla. Nasopharyngeal laryngoscopy revealed a patent airway without edema. She was initiated on intravenous dexamethasone, famotidine, and diphenhydramine, after which her edema improved but did not resolve. She was subsequently transferred to a local pediatric hospital and upon further testing she was found to have a C1 esterase inhibitor de novo gene mutation. Angioedema causes localized, non-pitting edema of the dermis, subcutaneous and submucosal tissue, and often manifests in the lips, face, mouth, and throat. Signs of laryngeal involvement include change in voice, stridor, dysphagia, and dyspnea. When laryngeal edema is present, it may necessitate definitive airway management and patients should be monitored in the intensive care unit.

Highlights

A 14-year-old African American female presented to the emergency department with spontaneous, sudden-onset lip swelling for 1 h
* Correspondence: jcohnmed2729@gmail.com 2Department of Otolaryngology-Head and Neck Surgery, Division of Facial Plastic Reconstructive Surgery, Louisiana State University Health Sciences Center, 1501 Kings Highway, Shreveport, LA 71103, USA Full list of author information is available at the end of the article
Hereditary angioedema may be considered in the case of angioedema without urticaria, as this rare form involves the latter pathway

Summary

Introduction

Case presentation A 14-year-old African American female presented to the emergency department with spontaneous, suddenonset lip swelling (upper greater than lower lip) for 1 h. The patient and her mother indicated that she did not have any food allergies nor did she have any new or unusual exposures. There was no family history of angioedema. Nasopharyngeal laryngoscopy revealed a patent airway without edema.

Results

Conclusion