Medicine and Health Sciences Commons^™

Hereditary Angioedema., Helen Lesser, Jason E Cohn

Otolaryngology (ENT) Resident Research

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 …