Improving Diagnosis: The Next Frontier in Hereditary Angioedema Management

This satellite symposium took place on 12th June 2016, as a part of the European Academy of Allergy and Clinical Immunology (EAACI) Congress in Vienna, Austria

Chairperson: Stephen Jolles1
Speakers: Stephen Jolles,1 Marco Cicardi,2 Coen Maas3

1. University Hospital of Wales, Cardiff, UK
2. University of Milan, Luigi Sacco Hospital, Milan, Italy
3. University Medical Center Utrecht, Utrecht, Netherlands

Disclosure: Dr Stephen Jolles has received support including travel and research grants, consultancy and speaker honoraria from Baxter, Binding Site, Biotest, BPL, CSL Behring, Octapharma, Grifols Phadia/ Thermofisher, Shire, SOBI, UCB Pharma, and LFB. Prof Marco Cicardi has received speaker, member of an advisory board, or consultant for Biocryst, CSL Behring, Dyax, Pharming/SOBI, and Shire/ViroPharma. Dr Coen Maas has received speaker honoraria from Bayer and Shire.
Acknowledgements: Writing assistance was provided by Dr Joan Thomas of ApotheCom.
Support: The symposium and publication of this article was sponsored by Shire. Authors received honoraria for preparation and delivery of their presentations. The views and opinions expressed are those of the authors and not necessarily Shire.
Citation: EMJ Allergy Immunol. 2016;1[1]:37-43.

Meeting Summary

Hereditary angioedema (HAE) is a rare autosomal dominant condition caused by a deficiency or dysfunction of C1 esterase inhibitor (C1-INH) that normally blocks activation of C1, the first component of the complement cascade. The condition manifests as recurrent self-limiting episodes of angioedema, without urticaria or pruritus, most commonly affecting the skin or mucosal tissues of the upper respiratory and gastrointestinal tracts.1 Symptoms are disabling and can be life-threatening when affecting the upper airways.1 Low awareness of the condition and its resemblance to other disorders typically leads to delays in diagnosis.2 Multiple mutations of the human C1-INH gene ( SERPING1 ) have been identified, some of which cause HAE and some of which do not.1 Genetic testing alone is therefore not diagnostic of HAE and needs to be supplemented with biochemical testing and hereditary information. There are mixed opinions among clinicians and scientists on the utility of genetic testing for diagnosis of HAE. The objective of this symposium was to raise awareness of HAE and its diagnosis, along with the role of genetic testing, familial testing, and future diagnostic methods for this disorder.

Dr Stephen Jolles chaired the symposium and opened with a presentation on current diagnosis of HAE. Prof Marco Cicardi presented on biomarkers that enable earlier diagnosis of HAE; and in the final presentation, Dr Coen Maas discussed the future of HAE diagnosis. Interactive voting and question and answer sessions were used to elicit the opinions of the audience at intervals throughout the symposium, which was concluded with a general discussion session.

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