Today is HAE Day, for Hereditary Angioedema Awareness. HAE is a very rare and potentially life-threatening genetic condition that leads to painful swelling in various body parts. Sufferers and medical professionals are calling for access to affordable treatment, which is critical for managing the condition.
‘There is a huge difference between just surviving and properly living – and access to critical treatment is the difference between the two,’ said Jess Bogoyevitch, a 22-year-old with hereditary angioedema (HAE). Airway swelling is particularly dangerous and can lead to death by asphyxiation.
‘I was having daily swelling attacks in my stomach, hands, feet and sometimes my whole body,’ she said. ‘The swelling could last for days, causing excruciating pain and gut issues. It can be very scary living in constant fear of an attack occurring.
‘The attacks would also make me extremely sluggish. I was so sick that it was difficult to get out of bed for days at a time. It is really hard for people to comprehend the impact of living with HAE, where one day you can’t get out of bed and the next day you could be good again,’ said Ms Bogoyevitch.
‘Being such a rare condition, I have to do a lot of self-advocacy with paramedics and doctors – they just don’t know about it.’
Rare but nasty
Hereditary angioedema occurs in about one in 10,000 to one in 50,000 people. Symptoms include episodes of swelling in various body parts including the hands, feet, face and airway.
Patients often have bouts of excruciating abdominal pain, nausea and vomiting that is caused by swelling in the intestinal wall.
Jess Bogoyevitch had a breakthrough five years ago when a new treatment drastically improved her quality of life. ‘Having access to the right treatment is life-changing,’ she said.
‘I had tried a few different treatments over the years as they became available, but they tended not to last for long or were difficult to administer. Finally, I had access to one treatment that really made a huge difference and I have never been more stable. I rarely have a major attack anymore.’
Fiona Wardman, CEO of HAE Australasia, lives with HAE herself and says the disease is poorly understood and often misdiagnosed.
‘After many years of unexplained swelling attacks, I finally received a diagnosis 26 years after my first attack. This is not uncommon, with the average time to diagnosis historically being 13 to 21 years,’ said Ms Wardman.
‘Internal swellings are not very obvious and may be diagnosed as psychosomatic, resulting in referral for psychiatric evaluation, or misdiagnosed as other illnesses, such as irritable bowel syndrome or allergies. Some people go through the unnecessary trauma of exploratory surgery because abdominal HAE attacks mimic a surgical abdomen, yet a simple blood test will determine if a patient has HAE.’
The attack rate varies from family to family, but some people can have several attacks per month making it very difficult to sustain a job and live a normal life. For people with frequent attacks, preventive therapy can be administered on a short-term or long-term basis, but access and affordability present great challenges.
Experts advocate for equitable access to treatment
HAE Day focuses on raising awareness about this rare disease. This year, experts are calling for equitable access to life-changing treatment.
Professor Connie Katelaris, HAE expert and Chair of the HAE Working Party for the Australasian Society of Clinical Immunology and Allergy, said ‘All Australian patients should have access to state-of-the-art treatment. We now have great understanding of the biochemical pathways that lead to the swelling and a number of drugs have been developed to block key molecules in the pathway.
‘One of these is remarkably effective at blocking swellings and is now available in many countries for prophylaxis. For those who have frequent attacks, this drug will be a life changer enabling them to lead normal lives.
‘While the drug was registered by the Therapeutic Goods Administration at the beginning of 2019, it took almost two years for it to be PBS listed at the end of 2021,’ said Professor Katelaris.
‘This is one example of why we desperately need a more efficient approach for drugs for rare diseases. We need to limit the delay for all Australian patients to access state of the art treatment. Economic arguments alone are not appropriate for rare disease drugs,’ she continued.
Equitable access to novel therapies such as gene therapies needed
‘Gene therapy is being developed for a number of rare diseases including HAE and other primary immunodeficiencies. When the trials have been completed, we will need processes in place to allow equitable access to what will be curative therapy,’ said Professor Katelaris.
‘Clinical trial data is exceptionally difficult to obtain for rare diseases so we also need to set up structures to accept things such as genetic analysis and target molecule identification as an evidence base. Funding basic research for these rare diseases continues to be a priority as the benefits and knowledge gained flow to other areas of medicine as well.’
Ms Wardman agrees, adding ‘Treatment is improving all the time, but equitable access is critical – it can save lives. As an example, before therapy became available, the mortality rate for airway obstruction was reportedly as high as 30 percent.
‘Preventing or minimising attacks can also help people actually participate in life – it can enable people to do things that many of us take for granted, such as having a job, going to university or having a family.’
Access to improved treatment for primary immunodeficiencies, including HAE, is a key focus on the new ASCIA Immunodeficiency Strategy, developed in collaboration HAE Australasia, and is available at www.nationalimmunodeficiencystrategy.org.au.
Further information on HAE is available at https://haeaustralasia.org.au.
