10 things HAE patients need to know

Dr Hilary Longhurst, an HAE specialist in Auckland, New Zealand, stepped on stage to give the first of 4 much-anticipated healthcare professional talks.

She introduced her talk as the ’10 things HAE patients need to know’, compiled from the questions frequently asked by HAE patients.

The first questions she addressed were: Why me? What causes HAE attacks? The short answer, she said, was that most people with HAE have a faulty gene called SERPING1. This faulty gene means people don’t have sufficient C1 inhibitor protein. Dr Longhurst told everyone that blood vessels are designed to be leaky at the right time and allow oxygen and nutrients to enter our tissues and cells. In people with HAE, the body produces too much of a substance called bradykinin because the C1 inhibitor protein is absent. The bradykinin tells the blood vessels to leak, which in turn leads to angioedema, and that’s what causes HAE.

The following questions were: How can I recognize the early signs of an HAE attack? What should I do immediately?

Dr Longhurst asked the audience if they knew when an attack was coming, and quite a few people said they did. Dr Longhurst noted that this is something that happens, and seemingly more so in younger people. The things that happen include ring-like rashes or patches on the skin, feeling irritable, numbness at the site of a forthcoming attack, and sometimes an overwhelming sense of fatigue. “That fatigue is perhaps not surprising,” she said, “your body is putting oxygen and energy into parts where it shouldn’t be.”

All of these and many others are examples of prodromal or warning symptoms.

Attack warning signs are individual to each person, Dr Longhurst suggested, and the biggest mistake is when patients leave it too late to treat. “Perhaps they felt some stomach discomfort and tried to sleep it off,” she said. The problem can be two-fold: (1) It can take a lot longer for everything to settle down after treatment, and (2) there can be a higher chance of the attack coming back. Dr Longhurst advised the audience that, where possible, “Treat early. You don’t know how bad that attack is going to be.”

“Know in your head what needs to happen if you have an attack. Get your paperwork together. If you have it, find your attack medication. Plan your day, because there may be disruption.”

Next up was the question: When should I seek emergency medical help?

The first thing to think about, Dr Longhurst said, was pain. If you’ve got such incredible pain you can’t function, just go to the hospital. Dial the emergency number for your hospital.

The next area of immediate concern is throat attacks. These are very, very dangerous, Dr Longhurst said. Although rare, you need to know what to do to protect yourself. If you feel something not quite right in your throat, she said, treat any swelling inside the mouth immediately.

“If you are having a throat attack, get to the hospital. Don’t finish what you’re doing. Don’t finish your shopping trip. You need to go straight to the hospital.”

When you get to the hospital, this is where a letter from your doctor or the HAEi emergency cards come in. You might not be able to speak. These cards, available in many languages, can be easily shown to doctors.

Dr Longhurst tackled triggers: What common triggers should I avoid to prevent HAE attacks? She started by indicating that medicines called ACE inhibitors will almost always lead to more HAE attacks. Although ACE inhibitors are commonly used for blood pressure treatment, doctors can prescribe other effective drugs. The second is medicines containing the female hormone estrogen, such as birth control pills, hormone replacement treatment, and some cancer treatments. There will be alternatives, except perhaps in rare cancer cases where your doctor will help you manage the risks.

Beyond these medicines, for patients on preventative treatment, Dr Longhurst didn’t think patients should avoid potential triggers. “Proper prophylaxis means you can do normal things,” she said.

However, she acknowledged that you can’t always avoid certain triggers. Stress and menstruation (with its associated hormonal fluctuations) were 2 examples. Dr Longhurst’s advice was if in doubt, take your medication. She also used this opportunity to answer the question: What should I do if I run out of medicine or can’t access medical help easily? Plan ahead, was her advice. The guidelines recommend that people have at least 2 treatments. “Keep that treatment with you, especially when you don’t think you’ll need it,” said Dr Longhurst, “as that will be exactly the time an attack might start.”

‘Why is it important to get my family tested for HAE?’ was the next question Dr Longhurst faced. The simple answer is that if you have a diagnosis, your chance of dying from HAE -even if you don’t have treatment- is very, very much reduced. The more you know about HAE and what you can do to manage it, the less likely you are to die of it.

Even in a country with only basic treatments available, this can make a huge difference: using these treatments can reduce abdominal attacks and help you get the exam results you need or keep a job – all the things that make life worth living.

Dr Longhurst moved onto the question: Who can I turn to for help when I feel isolated or overwhelmed? Referencing the song forever linked with Liverpool Football Club, ‘You’ll Never Walk Alone,’ she told the audience that they, too, are not alone. “If you feel bad, contact HAEi, your family and friends, or your doctor. Email me,” she said, “I respond if someone emails for help.”

The last question was: Will my life ever feel normal with HAE? Dr Longhurst commented wryly that perhaps normality was overrated. Even before modern treatments, she had patients who became doctors, head teachers, and academics. People found a way to live their lives. She recalled a patient who sailed the South Pacific with her 2 teenage kids.

“You can still do a lot of things,” she said. “Life may not be normal, but life can be really full and fulfilling.”

Looking to the future, Dr Longhurst said that life will be normal or much closer to it: “We are working together to ask people to provide all HAE patients with what they need to restore normal health.”