Next generation sequencing in HAE

Dr Samantha ChanDr Samantha Chan

Walter and Eliza Hall Institute (WEHI) of Medical Research

Hereditary angioedema (HAE) is a disease of the immune system that causes recurrent swelling of the face, limbs, gut and airways. It is an exceptionally rare condition, and as a result it is often missed. Many patients have symptoms of HAE for over 10 years before being correctly diagnosed.

The impact of delayed diagnosis on patients, their families and the healthcare system is substantial. Highly effective treatments for HAE are available throughout Australia, but they are inaccessible if the underlying disease has not yet been identified. Untreated HAE can lead to difficulty participating in school or work, multiple hospital admissions, unnecessary abdominal surgery and even death in the event of an airway attack. 

Following recent developments in genetic testing technology, DNA sequencing has come to the forefront as a fast, cost-effective tool for detecting many immune deficiencies. However, its role in HAE has been limited by its high rate of ‘false negatives’ for this condition (i.e. failure to identify HAE in patients known to have the disease).

This study will perform a panel of genetic tests on patients with HAE to identify which investigations are the most accurate. It will also explore how genetic changes lead to symptoms of disease, in order to better understand the mechanisms of this debilitating and sometimes life-threatening illness.

The research team from left - Dr Vanessa Bryant, Dr Samantha Chan, Dr Charlotte Slade and Dr Jo Douglass.

Dr Vanessa Bryant Dr Samantha Chan Dr Charlotte Slade and Dr Jo Douglass

Dr Chan is based at The Royal Melbourne Hospital and was awarded the 2019 AIFA Hereditary Angioedema Clinical Research Grant of $15,000 supported by CSL Behring.

Content created September 2019

©2019 Allergy and Immunology Foundation of Australasia