Literature DB >> 32295794

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

Anna Trier Heiberg Brix1,2, Trine Mehlbye Svensson1,2, Malin Sandberg2, Anette Bygum3,4.   

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. © BMJ Publishing Group Limited 2020. No commercial re-use. See rights and permissions. Published by BMJ.

Entities:  

Keywords:  dermatology; ethics; ethnic studies

Mesh:

Substances:

Year:  2020        PMID: 32295794      PMCID: PMC7199096          DOI: 10.1136/bcr-2019-231906

Source DB:  PubMed          Journal:  BMJ Case Rep        ISSN: 1757-790X


  24 in total

1.  The international WAO/EAACI guideline for the management of hereditary angioedema-The 2017 revision and update.

Authors:  M Maurer; M Magerl; I Ansotegui; E Aygören-Pürsün; S Betschel; K Bork; T Bowen; H Balle Boysen; H Farkas; A S Grumach; M Hide; C Katelaris; R Lockey; H Longhurst; W R Lumry; I Martinez-Saguer; D Moldovan; A Nast; R Pawankar; P Potter; M Riedl; B Ritchie; L Rosenwasser; M Sánchez-Borges; Y Zhi; B Zuraw; T Craig
Journal:  Allergy       Date:  2018-03-12       Impact factor: 13.146

2.  The movement of patients across borders: challenges and opportunities for public health.

Authors:  Matthias Helble
Journal:  Bull World Health Organ       Date:  2010-11-26       Impact factor: 9.408

3.  Challenges raised by cross-border testing of rare diseases in the European union.

Authors:  Pia Pohjola; Victoria Hedley; Kate Bushby; Helena Kääriäinen
Journal:  Eur J Hum Genet       Date:  2016-07-06       Impact factor: 4.246

4.  Classification, diagnosis, and approach to treatment for angioedema: consensus report from the Hereditary Angioedema International Working Group.

Authors:  M Cicardi; W Aberer; A Banerji; M Bas; J A Bernstein; K Bork; T Caballero; H Farkas; A Grumach; A P Kaplan; M A Riedl; M Triggiani; A Zanichelli; B Zuraw
Journal:  Allergy       Date:  2014-03-27       Impact factor: 13.146

5.  Health-related quality of life in Danish children with hereditary angioedema.

Authors:  Anne Aabom; Dan Nguyen; Niels Fisker; Anette Bygum
Journal:  Allergy Asthma Proc       Date:  2017-11-01       Impact factor: 2.587

6.  Health-related quality of life among children with hereditary angioedema.

Authors:  Batya Engel-Yeger; Henriette Farkas; Shmuel Kivity; Nóra Veszeli; Kinga Viktória Kőhalmi; Aharon Kessel
Journal:  Pediatr Allergy Immunol       Date:  2017-04-04       Impact factor: 6.377

7.  Before and after, the impact of available on-demand treatment for HAE.

Authors:  Sandra C Christiansen; Anette Bygum; Aleena Banerji; Paula Busse; Henry Li; William Lumry; Mark Davis-Lorton; Jonathan A Bernstein; Michael M Frank; Anthony Castaldo; Janet F Long; Marc Riedl; Bruce L Zuraw
Journal:  Allergy Asthma Proc       Date:  2015 Mar-Apr       Impact factor: 2.587

8.  Health-related quality of life in relation to disease activity in adults with hereditary angioedema in Sweden.

Authors:  Patrik Nordenfelt; Mats Nilsson; Anders Lindfors; Carl-Fredrik Wahlgren; Janne Björkander
Journal:  Allergy Asthma Proc       Date:  2017-08-30       Impact factor: 2.587

9.  Attitudes to and implementation of video interpretation in a Danish hospital: A cross-sectional study.

Authors:  Ida Nygaard Mottelson; Morten Sodemann; Dorthe Susanne Nielsen
Journal:  Scand J Public Health       Date:  2017-07-04       Impact factor: 3.021

10.  Estimation of EuroQol 5-Dimensions health status utility values in hereditary angioedema.

Authors:  Emel Aygören-Pürsün; Anette Bygum; Kathleen Beusterien; Emily Hautamaki; Zlatko Sisic; Henrik B Boysen; Teresa Caballero
Journal:  Patient Prefer Adherence       Date:  2016-09-06       Impact factor: 2.711

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  1 in total

Review 1.  Patient-reported Outcome Measures for Angioedema: A Literature Review.

Authors:  Anna Trier Heiberg Brix; Henrik Balle Boysen; Karsten Weller; Teresa Caballero; Anette Bygum
Journal:  Acta Derm Venereol       Date:  2021-05-19       Impact factor: 3.875

  1 in total

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