Hereditary angioedema: The challenges of cross-border family investigation and treatment

Anna Trier Heiberg Brix, Trine Mehlbye Svensson, Malin Sandberg, Anette Bygum*

*Corresponding author for this work

Research output: Contribution to journalJournal articleResearchpeer-review

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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.

Original languageEnglish
Article number231906
JournalBMJ Case Reports
Volume13
Issue number4
ISSN1757-790X
DOIs
Publication statusPublished - 14. Apr 2020

Keywords

  • dermatology
  • ethics
  • ethnic studies

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