Sufferers of the rare and potentially life-threatening disease Hereditary angioedema (HAE) are raising red flags because Australia is lagging behind on diagnosing and treating the disease. HAE allows the body’s immune system to attack blood vessels and causes severe swelling of the face, hands, feet, and abdomen. Attacks can come on without warning, and there is no cure. The most severe attacks can cause severe swelling and close a person’s airways, in some cases, causing death. It is believed that stress is one of the most common triggers.
HAE Australasia, a patient advocacy group, found that Australia needed major improvement in 14 of the 20 recommendations outlined by the World Allergy Organization (WAO).
Before effective therapy became available, about one in three HAE patients died from laryngeal attacks. Dr. Connie Katelaris, an immunologist and allergy expert said, “It is a devastatingly frightening condition from that point of view and many people, although they’re not swelling all the time, live with that fear every day,” she said. Although there are 120 Australians who have been diagnosed with HAE, Dr. Katelaris estimates the number is more likely closer to 500. People being misdiagnosed, or because of lack of awareness have no idea they have HAE, make up the discrepancy. “This is an incredibly rare disorder and most doctors won’t see a patient with this in their working lifetime,” she said.
Tom Flynn had unexpected pain and swelling for decades, and was finally diagnosed at the age of 38. Now 72, he would have terrible pain and swelling in his stomach. “That would last for about a day to three days,” he explained. Finding answers became even more important when two of his three children were diagnosed with HAE, and now two grandchildren, as well. His grandson, Ryan, has been hospitalized 25 times this year.
His mother, Tania, knows exactly what Ryan is experiencing because when she was a child, she suffered an attack where her tongue and airways swelled. Her mother later told her that she’d nearly died.
In Australia, finding proper treatment and affordable treatment is a challenge. HAE Australasia group president Fiona Wardman, who also has HAE, states that a simple genetic test can show if someone had the disease. “And then hopefully getting [the patient] to a GP then an immunologist who treats the disorder and getting them onto the right treatment.”
Tom Flynn acknowledges that doctor awareness of HAE is growing, and in the different treatments that are currently on the market. “Unfortunately, they’re so expensive. But, I live in hope that while I might not see it in my lifetime, there’ll be a – not so much a cure – but a treatment.”
