Hereditary Angioedema
A Case Report and Clinical Review
DOI:
https://doi.org/10.70552/pjaai.26.1.17221Keywords:
hereditary angioedema, C1 esterase inhibitor, C1-INH deficiency, C1-INH inhibitor, C1 inhibitor deficiency hereditary angioedemaAbstract
Hereditary angioedema (HAE) is a rare genetic disorder characterized by recurrent angioedema without urticaria or pruritus, involving the skin, upper airway, and gastrointestinal mucosa; swelling resolves within two to five days, yet laryngeal involvement can cause life-threatening airway obstruction. HAE results from C1 esterase inhibitor (C1-INH) deficiency (Type I) or dysfunction (Type II), disrupting the complement and contact systems and leading to excessive bradykinin production, which increases vascular permeability and tissue swelling. Prevalence is ~1 in 50,000, with autosomal dominant inheritance and onset in childhood or adolescence, though late-onset cases occur. We report a 6-year-old Filipino boy with right facial swelling after a suspected insect bite on the upper eyelid; family history prompted referral to a Pediatric Allergologist. Initial diphenhydramine, hydrocortisone, and ranitidine maintained stability with improvement over two days; outpatient assays showed decreased C1-INH function and level, confirming HAE. Early recognition, timely diagnosis, appropriate management, and education, especially in resource-limited settings, are crucial for outcomes.
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Copyright (c) 2026 Giuseppe Danielle Jaring-Guerra, Celine Ng-Yapjuangco, Kassandra Elena Apaga
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