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BMJ Case Reports 2018; doi:10.1136/bcr-2018-225825
  • Reminder of important clinical lesson
  • CASE REPORT

Hereditary angioedema: a mother diagnosing her child using Google as a diagnostic aid

  1. Anette Bygum3
  1. 1Department of Dermatology, Zealand University Hospital, Roskilde, Denmark
  2. 2Department of Clinical Immunology, University Hospital of Odense, Odense, Denmark
  3. 3Dermatology and Allergy Center, University Hospital of Odense, Odense, Denmark
  1. Correspondence to Dr Anette Bygum, anette.bygum{at}rsyd.dk
  • Accepted 5 September 2018
  • Published 3 October 2018

Summary

Hereditary angioedema (HAE), due to C1-inhibitor deficiency, is a rare autosomal dominant and potentially life-threatening disease characterised by recurrent oedema attacks of skin, mucosa and viscera. Due to the rarity and the fact that symptoms of HAE imitate other forms of angioedema and other conditions, HAE may be misdiagnosed, especially in emergency settings. Consequently, patients with HAE may experience significant delays in diagnosis. Without an accurate diagnosis patients with HAE may not receive proper treatment. At times ’Doctor Google' may be an important tool in establishing the diagnosis. The aim of this case report is to emphasise the importance of listening to patients and relatives and being humble to ’Doctor Google'. Furthermore, the aim is to remind all healthcare personal of HAE and the importance of considering the rare differential diagnoses to common symptoms.

Footnotes

  • Contributors TS: planning, research and writing main body of the article. MAJ: research and editing. AB: planning, editing and supervision.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Patient consent Obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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