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Hereditary angioedema.

Helen Lesser1, Jason E Cohn2

  • 1Department of Otolaryngology-Head and Neck Surgery, Philadelphia College of Osteopathic Medicine, 4190 City Line Avenue, Philadelphia, PA, 19131, USA.

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|July 30, 2021
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Summary
This summary is machine-generated.

A young patient experienced sudden lip swelling due to a rare C1 esterase inhibitor gene mutation, a form of hereditary angioedema. Prompt medical care improved symptoms but genetic testing confirmed the underlying cause.

Keywords:
AngioedemaHereditary angioedemaLip swellingPediatric otolaryngology

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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.