Diagnosis delays put lives at risk

Media release: HAE AUSTRALASIA
May 15, 2015

Diagnosis delays put lives at risk for those with hereditary angioedema
Patient group calls for better treatment and diagnosis

Major improvement in the diagnosis of the life-threatening rare disease hereditary angioedema (HAE) is needed for New Zealand to meet international recommendations, says a patient advocacy group.
HAE Australasia president Fiona Wardman says Australia and New Zealand have not achieved any of the recommendations set out by the World Allergy Organisation (WAO) for the management of HAE .
“Our research shows Australia needs to make major improvements in 14 of the 20 recommendations outlined by the WAO,” says Ms Wardman. “Health professionals worldwide need to be more aware of the symptoms of HAE, make the right diagnosis, avoid unnecessary surgery and save lives.”
HAE is a chronic primary immune deficiency affecting about 60 New Zealanders and 480 Australians. The body’s immune response damages blood vessels, causing severe swelling called oedema.
Studies reveal the risk of death, mainly due to suffocation during laryngeal attacks, can be as high as 30-40 per cent in undiagnosed patients.Most patients experience at least one attack a month and symptoms of severe swelling around the face, hands, feet and abdomen can last for up to a week.
Ms Wardman says major improvements are needed to help HAE patients, from earlier diagnosis to better access to treatment. HAE patients often remain undiagnosed for an average of 13 years due to the rarity of the disease, putting them at increased risk. Some have unnecessary surgery because their abdominal attacks can mimic other medical conditions such as appendicitis.
“It can be difficult for health professionals to diagnose HAE ahead of other possible causes, but a simple blood test can determine if the patient has HAE, saving patients and medical staff precious time and resources.
“The public and healthcare professionals need to be more aware of the symptoms and how they can be mistaken for other conditions. If someone has been ill for a number of years with pain and swelling, and no clear diagnosis, they should talk to their GP about HAE.”
She says any patient suspected of having the disorder should be tested and referred to an immunologist for further assessment.
New Zealand immunologist Associate Professor Rohan Ameratunga says doctors can request specific blood tests for complement (C4) and C1-inhibitor which are abnormal in most HAE patients.
As HAE is genetic, children have a 50% chance of inheriting the disease from either parent. HAE can also result from a spontaneous mutation of the C1-inhibitor gene.
Associate Professor Ameratunga leads a group undertaking genetic testing for HAE and other primary immune deficiencies (PIDS). He says the customised genetic testing programme at Auckland Hospital offers rapid testing and has been helpful in treating these patients.
He will talk about this project at the HAE Australasia annual meeting in Sydney on Saturday, May 16, which is the day patient organisations worldwide celebrate hae day :-)
HAE Australasia supports 120 patients and their families throughout Australia and New Zealand. It is creating a patient registry to support people with HAE, help researchers study this rare disease, and provide information about the latest treatments.
HAE groups worldwide want faster diagnosis, better care and more research to help paients lead healthier lives. Untreated, patients with HAE lose up to 100 to 150 work days a year (or school days in children). There is no cure for HAE but treatment is available to prevent or minimise attacks.
“HAE patients often experience very poor quality of life, living in fear of their next attack,” says Ms Wardman. “Through hae day :-) and other activities we hope to educate more people so patients no longer have to wait so long for an accurate diagnosis and the right treatment.”
ENDS

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