Hereditary angioedema.

Area of Science:

• Pediatrics
• Genetics
• Emergency Medicine

Background:

• Angioedema presents as localized, non-pitting edema affecting the skin, subcutaneous, and submucosal tissues.
• Commonly affects the lips, face, mouth, and throat, with potential for laryngeal involvement.

Purpose of the Study:

• To report a case of angioedema in a pediatric patient.
• To highlight the diagnostic process and genetic findings in a case of de novo C1 esterase inhibitor mutation.

Main Methods:

• Clinical presentation and examination of a 14-year-old female with acute lip swelling.
• Nasopharyngeal laryngoscopy to assess airway patency.
• Initiation of intravenous dexamethasone, famotidine, and diphenhydramine.
• Genetic testing to identify the underlying cause.

Main Results:

• The patient presented with sudden-onset upper lip edema.
• Initial treatment provided partial symptom relief.
• Nasopharyngeal laryngoscopy confirmed a patent airway.
• Genetic analysis revealed a de novo C1 esterase inhibitor gene mutation.

Conclusions:

• Sudden lip swelling in pediatric patients warrants thorough investigation for angioedema.
• A de novo C1 esterase inhibitor gene mutation can manifest as acute angioedema.
• Early diagnosis and genetic identification are crucial for appropriate management of hereditary angioedema.