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Case report
Hereditary angioedema: the challenges of cross-border family investigation and treatment
  1. Anna Trier Heiberg Brix1,2,
  2. Trine Mehlbye Svensson1,2,
  3. Malin Sandberg2 and
  4. Anette Bygum3,4
  1. 1Falculty of Health Science, University of Southern Denmark, Odense, Denmark
  2. 2Department of Dermatology and Allergy Center, Odense University Hospital, Odense, Denmark
  3. 3Department of Clinical Genetics, Odense University Hospital, Odense, Denmark
  4. 4Clinical institute, University of Southern Denmark, Odense, Denmark
  1. Correspondence to Dr Anette Bygum; anette.bygum{at}rsyd.dk

Abstract

Hereditary angioedema (HAE) is a rare genetic disorder characterised by recurrent swellings involving subcutaneous and submucosal tissue that can be potentially life threatening in cases involving the upper airway. In this case report, we present a Syrian refugee family with HAE who have lived in Denmark since 2014. The index patient is an 8-year-old girl diagnosed with HAE after being hospitalised in Denmark with an angioedema attack. Her younger sister and father were diagnosed later, following investigation of the family. Exploring the family history, deaths due to suffocation were described in previous generations and other family members based in Sweden, Germany, Turkey, Saudi Arabia, USA and Syria could also potentially be affected. This highlights the need for a cross-border effort to diagnose and treat this inherited disorder.

  • dermatology
  • ethics
  • ethnic studies

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Footnotes

  • Contributors All four authors have been at the in-home visit with the patients. ATHB has written the article drafts, while TMS and MS have supported and contributed the process. AB is the supervisor and the physician who is responsible for diagnosing and treating the patients.

  • 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 ATHB has been involved in teaching activities with CSL Behring. AB has been involved in research and teaching activities with CSL Behring, Shire and Biocryst. MS has received travel grants from CSL Behring.

  • Patient consent for publication Obtained.

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

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