The statistics told a striking story at a recent European Parliament policy discussion, sponsored by CSL Behring, about the plight of European patients who live with the rare disease hereditary angioedema (HAE).
- Only 4% of primary care physicians and 12% of emergency room doctors have what patients consider a “very good” level of knowledge about HAE.
- HAE patients are often misdiagnosed with conditions such as appendicitis and receive unnecessary surgeries.
- Getting correctly diagnosed with HAE can take on average eight years or sometimes longer.
- Without diagnosis and treatment, swelling attacks that affect the mouth and throat are fatal 30% of the time.
Patients live with the physical burden and, also, an emotional one, said Dr. Mauro Cancian, who heads the allergy unit at the University Hospital of Padua, Italy. Before modern treatment became available, one-quarter of patients had a family history of someone dying of asphyxiation.
HAE, which can cause unpredictable swelling in a variety of body parts, is a genetic problem related to a protein called C1 esterase inhibitor (C1-INH). HAE patients are either missing C1-INH, have abnormally low levels of the protein or their C1-INH doesn’t function as it should.
“Most of our patients and the parents of young patients live in a constant state of anxiety waiting for the new attack,” Cancian said at the Parliament Events.
Play the video below to watch the full discussion.
Advocacy for HAE patients has brought progress, said Henrik Balle Boysen, President of HAE International (HAEi). In 2011, the organization had only 11 member countries and only about 40% of patients were getting diagnosed, Boysen said. Today, HAEi has 25 member countries and the diagnosis rate has increased to 53%, he said. When a specialist is in charge of their care, 80% of patients rate their doctor’s knowledge of HAE as “very good.”
But disparities exist and not all patients have full access to preventative treatment. Some patients must show they are having four attacks per month to qualify, Boysen said.
“When you consider the unpredictable nature of HAE and the risk of a fatal attack being the next one, this is simply not acceptable,” he said. “So, the goals are that we want to achieve a total control of attacks to normalize life. All modern treatments should be available universally with patients enabled for self-administration.”
CSL Behring’s Sujan Sivasubramaniyam agreed, saying that HAE has a profound impact on physical health, mental health and productivity.
“Quite frankly, we should consider one attack as one too many,” said Sivasubramaniyam, who is Senior Director, Global Advocacy and Policy, for CSL Behring, which makes medicines for rare and serious diseases, including HAE.
Toward an “attack-free ambition,” we should ask for more patient input and act on it. Let’s collaboratively create an environment where patients feel encouraged and comfortable to share the true impact of their attacks and their treatment burden, he said. Then doctors and patients can enter a shared decision-making conversation to make modifications to their treatment plans.
Other positive steps recommended by Sivasubramaniyam:
- Increase education and awareness among non-specialists to reduce the time to diagnosis.
- Improve access to specialist care.
- Give doctors all the tools in the toolbox by increasing patient access to modern long-term prophylaxis treatment in line with clinical guidelines without geographical inequalities or additional restrictive eligibility criteria.
- Continue research and innovation to ensure that there are incremental improvements to the standard of care, that the patient's quality of life increases and the disease burden decreases.
Stine Bosse, a member of the European Parliament representing Denmark, sees an opportunity to partner with industry to make scientific advancements that lead to faster diagnoses and improved quality of life for patients while also being responsible about costs. The time is right to focus on technology and data, she said.
“We can have many more clinical trials, cross borders, we can really attract also the industry to be into this really. I do think that there is light at the end of this tunnel and I am very clear that I really want to work on this and make it happen,” Bosse said.
Europe’s Reference Networks (ERNs), virtual organizations that aim to distribute knowledge and best practices about rare diseases, are a good step forward, but further coordination and collaboration is necessary across the EU, said Vytenis Andriukaitis, a member of the European Parliament representing Lithuania. The reason why? Europe’s 32 million rare disease patients.
We must keep health and health care topics high on the political agenda of European Parliament of European Commission of Councils, Andriukaitis said. The health care patients receive must be better coordinated and include more treatment options, he said. Cooperation between member states is essential. No country ought to go it alone.
Dr. Cancian said it’s time for the European medical community to shift its approach to rare disease education. He shared a slogan catching on in Italy: “Make the knowledge common. The disease is rare but we have to make the knowledge of this rare disease common.”
