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A state-wide survey of patients with HAE in South Australia

AIFA Hereditory Angiedema Research Grant 2020 (supported by CSL Behring)

Associate Professor William Smith, The Royal Adelaide Hospital, South Australia.

A project to determine the population prevalence of Hereditary Angioedema (HAE) in South Australia to identify unmet needs for prevention of HAE attacks.

Dr William Smith

Hereditary angioedema (HAE) is a rare genetic condition, in which patients are subject to unpredictable attacks of swelling (angioedema) of various body parts including the hands, feet and face, gastrointestinal tract, and the tongue and airway. Swelling of the airway in HAE is potentially fatal if not rapidly treated. Recurrent attacks of swelling, as well as anxiety resulting from potential threat of airway swelling, impact substantially on functional capacity and quality of life of HAE sufferers.

The number of patients with HAE in the Australian population is not known. Population prevalence is estimated at anywhere between 1:10,00 and 1:150,000. In South Australia, there are three immunology units managing patients with hereditary angioedema, a unique statewide electronic health record system, and a single major public pathology laboratory. Dr Smith’s team propose to use a number of methods to determine the number of patients with HAE in South Australia, including collaboration with colleagues (immunologists and non-immunologists), tracing through families, examination of electronic health records, and pathology results.

“We believe we are in a good position to identify most if not all people with HAE in SA, to determine population prevalence of this condition”, states Dr Smith.

HAE is mild for some people, with very infrequent and mild attacks, whereas for other people, attacks are frequent, severe and disabling. The team will determine the proportion of mild, moderate and severe patients in the South Australian population.

The goal of improving the management of HAE is to prevent swelling attacks, preferably with safe, effective and convenient treatments. A number of treatments have been developed but not all are freely available. Dr Smith’s project will survey the SA HAE population to determine HAE severity, impact on quality of life, and unmet needs, particularly in the prevention of angioedema attacks. This will help to determine the best possible methods of management.

The AIFA Hereditary Angioedema (HAE) Clincial Research Grant of $15,000 was supported by CSL Behring.

 Results

This study on hereditary angioedema (HAE) in South Australia has been published in the World Allergy Organization Journal (2024) 17:100918 http://doi.org/10.1016/j.waojou.2024.100918 by Alexander Troelnikov, Karen Milburn, Pravin Hissaria, Thanh Thao (Adriana) Le, and William Smith. 


Results from the published study include:

  • Identification of 35 people with HAE in South Australia, yielding a population prevalence of 1 in 52,400, in line with average established international prevalence.
  • HAE was identified in 4 patients of Indigenous Australian heritage.
  • Seventeen of 31 adult patients completed an additional multi-questionnaire survey, revealing overall satisfactory disease control.
  • Most common prophylactic therapies were danazol, lanadelumab, and subcutaneous C1 inhibitor.
  • Many patients (mostly male) with milder disease had responded well to low-dose danazol with good tolerance and have continued to use it, whereas patients with higher disease burden are now using newer therapies, and overall satisfaction with current prophylaxis is high.

Updated July 2024