A global movement in action

After the short movement break, the first of a packed day of dedicated patient leader and advocacy sessions commenced in the main auditorium.

On stage were Fiona Wardman, Executive Vice President (EVP) and Chief Advocacy Officer, and Jørn Schultz-Boysen, EVP and Chief Operating Officer. Both took the opportunity to highlight some of the hotly anticipated sessions on the agenda, including spotlight sessions on educating and engaging young people in advocacy through the HAEi LEAP program and an afternoon of breakout sessions where advocates from similar geographies will be able to pool their knowledge and share experiences to improve the lives of those they serve.

Before all that, Jørn and Fiona welcomed their Executive colleagues, Henrik and Tony back to the stage.

‘We honor the persistent commitment to advocacy that everyone in this room brings to the table.’

– Tony Castaldo, HAEi CEO and Chairman of the Board

Telling the assembled delegates how incredible they are, Tony made clear that the entire community knows they are the ones who show up when it counts, fighting for access to HAE therapies and making sure no patient feels alone or overlooked.

The family of Member Organizations continues to grow, with the network now spanning 106 countries worldwide. HAEi, Tony remarked, recently welcomed new advocacy organizations in Vietnam, Trinidad and Tobago, Niger, Namibia, and Sri Lanka. Still, every member country, whether newly established or not, represents a story of real courage and persistence.

That network of Member Organizations isn’t just growing, but succeeding. According to Henrik, there are compelling stories of advocacy in action from all corners of the world. He highlighted just a few to the audience:

• In Tunisia, an HAEi workshop brought together 70 patients and caregivers for the first time
• In Pakistan, an HAEi-supported medical webinar reached more than 40 physicians who had never received HAE training
• In Panama, a joint effort between the Member Organization, physicians, and HAEi led to the country approving its first official HAE treatment guideline, and each hospital in the country is now putting the guideline into practice
• In Poland, sustained advocacy secured reimbursement for a new preventive therapy
• In Argentina, a coordinated community effort reversed a negative government recommendation on access to a critical medicine
• In Armenia, patients who had never had access to modern medication enrolled in a clinical trial that opened treatment options for the very first time

All these advances were, according to Henrik, the result of people like those in the room, who exhibited a never-give-up attitude and spirit.

Tony and Henrik shared an overview of the current treatment landscape, which they reminded the audience makes HAE a leader in rare diseases and something everyone involved in advocacy should be extremely proud of. They outlined the following medicines:

• CSL Behring offers Berinert and Haegarda, both plasma-derived C1-inhibitor therapies for on-demand treatment and prevention of attacks, respectively
• Takeda offers Cinryze, another C1 inhibitor concentrate for on-demand treatment and prevention, as well as Firazyr for on-demand treatment. Additionally, the company offers Takhzyro for routine prevention and Kalbitor, which is an acute treatment primarily available in the United States
• From Pharming, there is Ruconest, a recombinant C1 inhibitor concentrate to treat attacks, which is also primarily available in the United States
• BioCryst produces Orladeyo, which is an oral, once daily, preventive therapy
• Icatibant, which is a generic form of Firazyr, is available from a variety of manufacturers

Additionally, the community saw a remarkable three new medicines become available in 2025. These were:

• CSL Behring’s Andembry, which inhibits Factor 12 and is given once a month for the prevention of HAE attacks
• Ionis launched Dawnzera, which works to prevent HAE attacks by targeting pre-kallikrein with dosing every four or eight weeks
• KalVista made Ekterly available, which is an oral plasma kallikrein inhibitor for the on-demand treatment of HAE attacks

Adding to all this good news, five more companies are developing new HAE therapies:

• ADARx is progressing a medicine called onvuzosiran, which uses short-interfering RNA (siRNA), in trials to prevent attacks with dosing every three or six months
• Argo Biopharma’s investigational new treatment, known by the codename BW20805, is another siRNA therapy targeting pre-kallikrein to prevent attacks, with dosing every three and six months being tested
• Astria, now part of BioCryst, is developing navenibart, a plasma kallikrein inhibitor currently tested for attack prevention, taken every three or six months
• Intellia is currently testing lonvoguran ziclumeran, a gene-editing therapy based on CRISPR-Cas9 technology. This therapy, which is in Phase-3 trials at present, aims to inactivate the gene that makes pre-kallikrein with the goal of long-term attack prevention
• Pharvaris is developing deucrictibant, an oral therapy trialed for both on-demand treatment and attack prevention.

These companies, Tony made clear, are here at this conference for a reason: “They are here because they want to hear from you.” Tony encouraged everyone present to engage with the company representatives, share the unique needs of people with HAE, and ask for commitment and support for their individual organizations.

Tony and Henrik concluded by warmly welcoming everyone present and said how much they looked forward to personally greeting everyone over the coming two days.

An agenda built by you, for you

Fiona returned to the stage to provide context on the agenda and to introduce the Regional Patient Advocates (RPAs) who would deliver much of the program.

Fiona made clear that HAEi shaped the agenda for this conference based on feedback from previous meetings.

‘We read every response, and all that input shapes the program you will experience. We build sessions that reflect your priorities and support the work you do within your organizations.’

– Fiona Wardman, EVP and Chief Advocacy Officer

Reflecting on what she called the ‘voice of our community’, Fiona highlighted some key topics:

• Access to HAE medicines and treatments
• Improving diagnosis
• Patient engagement
• Building a strong organization
• Reaching children and their families
• Mental health
• Patient education
• Research
• Partnership

All of these areas are at the heart of every session, Fiona confirmed, as she invited Michal Rutkowski, HAEi Director, Regional Advocacy Program, to join her on-stage and introduce the RPAs who will lead discussions and learning on the topics above.

Michal asked the audience to give a warm welcome to HAEi’s RPAs:

Javier Santana, Central America and Caribbean; Patricia Karani, Sub Sahara Africa; Maria Ferron, Mediterranean, North Africa, Benelux and British Isles; Fernanda de Oliveira Martins, South America and Mexico; Natasa Angjeleska, South Eastern Europe; Fanny Schappler, Central and South Asia, Germany, Austria, Switzerland, and Israel; and Yong Hao Lim, for East Asia.

Turning first to Javier, Michal asked him about the challenges facing countries in his region in improving access to medication. Javier answered that the resistance from government authorities was the first obstacle, and a lack of cooperation from some doctors who don’t want to work with patient groups. In his session, Javier will discuss this topic with patients and Member Organization leaders to hear their plans and strategies to increase access to modern therapies.

Ways to work with doctors and health systems to improve diagnosis and care were the next priority, and one where Natasa will facilitate a session. She shared some initial thoughts on practical steps to engage with doctors, such as asking your own doctor for assistance. She told the audience that her session will feature some amazing guests sharing their success stories and case studies in partnering with physicians.

A session will focus on building stronger and more sustainable patient organizations. Fernanda felt that using HAEi Connect would help build a strong organization, as it offers security for patient data and helps Member Organizations to manage and communicate with their membership. For Fanny, making HAE TrackR more widely available would support building a better organization by fostering truly meaningful conversations between patients and physicians about HAE management.

Fernanda highlighted that she will lead a session on the practicalities of registering Member Organizations and showcase a pilot program, the HAEi Member Organization Growth and Impact Summit (MOGIS).

Fanny’s focus was on building regional networks within a country, and on how good governance, sustainability, and leadership can help an organization build effective collaboration and partnerships with other individuals and groups.

Maria commented on the importance of patient engagement in reaching more people living with HAE. She acknowledged that this is a global problem and a struggle for many and that she would be speaking with several great panelists to discuss immediate ideas to implement and future ways to think about patient engagement.

Patricia will focus on building a community in under-resourced countries. She felt that using an HAEi-hosted website was one way to address problems of mis- or under-diagnosis, by providing high-quality information.

Yong Hao will take that discussion further with a session on educating patients. He felt the two most important things were reliable and accessible content. In his session, the audience would hear from Member Organizations that have successfully educated patients in partnership with pharmaceutical companies.

Participant feedback raised the importance of mental health and quality of life, which would be the basis of a session led by Natasa. She felt that mental and physical health are intertwined; it is crucial to manage both, and Member Organizations will share their experiences.

Diamond sponsor session: BioCryst

Next onto the main stage were representatives of BioCryst, the diamond supporter of the 2026 Global Angioedema Leadership Conference: Diane Ramsey-Paige, the Patient Centricity Lead, and Danielle Petrangeli Potteiger, SVP, Marketing and Operations, Americas. Although both were new presenters at an HAEi conference, they weren’t new to many in the audience, who greeted them both warmly.

Danielle and Diane told the conference how they have met and learned from so many in the HAE community over the years, and that this knowledge has been a critical part of all BioCryst has been able to achieve.

“What we like to say at BioCryst is that we’re just getting started,” Danielle told the audience. She explained that listening to the HAE community has inspired everyone at the company to move faster, run harder, and maintain a deep commitment to the community. The result, she said, was the 2020 US launch of the first once-daily oral therapy for children with HAE aged two to 12: a product shaped by insights from people with HAE and their caregivers, and by the wholehearted participation in clinical trials.

‘We’re just getting started. We recently acquired Astria, which allows us to be even bigger and bolder, bringing additional therapies to the HAE community and better serving you.’

– Diane Ramsey-Paige, BioCryst

Praising the diversity of the HAE community, Danielle made clear how honored BioCryst was to be part of it and to hear about unmet needs. One of these is access to medicine. BioCryst’s product is now available in 45 countries and counting, but of course, she said, “We’re just getting started.”

BioCryst reiterated a longstanding promise: to make the therapy available around the globe, regardless of ability to pay. The speakers were keen to stress that this is not going to happen immediately, but rather something they are constantly striving for.

Concluding, Diane spoke for both when she said that this is a promise that neither of them takes lightly. She thanked the HAE community for all it had done.

‘No matter how many oceans are between us, where you live and what your HAE looks like, please know that BioCryst is dedicated to this HAE community for the long term.’

– Diane Ramsey-Paige, BioCryst

Member Organization spotlight: Engaging with young people and HAEi LEAP

Natasa Angjeleska, HAEi’s RPA for South Eastern Europe, facilitated a session on how Member Organizations (MOs) can reach and engage young people to recruit the advocates of the future. Natasa explored this subject with three MO representatives, two of whom had first-hand experience of the HAEi’s LEAP (Learn, Experience, Advocate, Pave the way) program and its impact on the individual participant and their MO:

• Monika Mackovikova of HAE Czech Jr
• Victoria Schultz-Boysen of HAE Scandinavia, HAEi LEAP Student participant
• Sarah L. Smith Foltz of HAE Spain, HAEi LEAP MO participant

Natasa turned first to Sarah from Spain, asking her to tell the audience about what HAEi LEAP has meant to her MO.

Sarah explained that as part of the HAEi LEAP education program, students commit to working with their MO on a project to help the HAE community. Since the HAEi LEAP program started, HAE Spain has encouraged at least one of their young people to apply. In 2025, the project “Drawing Stories” captured the experiences of HAE patients through AI-generated drawings in 10 short videos. HAE Spain now has two young people who have graduated from HAEi LEAP. The first young person is now responsible for managing the organization’s successful social media.

‘HAEi LEAP is a vital tool to get youngsters involved, interested, and committed to advocacy. Ultimately, this is how any organization is going to survive: by bringing youngsters into advocacy.’

– Sarah L. Smith Foltz, HAE Spain

Victoria brought the perspective of an HAEi LEAP participant. Her project was to create content that would support every member of HAE Scandinavia, using photos, videos, and podcasts, and to make it creative, engaging, and uplifting. Victoria explained that this eventually became a smartphone app, designed to be a ‘friend in your pocket’. She wanted to create a platform that gives you advice, makes you smile, gives you knowledge, and inspires you to have the best life you can, whether you have HAE or care for someone who does.

Monika shared how HAE Czech Jr has harnessed the potential of young people to build HAE awareness campaigns. She described an exhibition of children’s artwork, displayed at scientific conferences, medical faculties, plasma donation centers, and even the Czech Parliament building. After the exhibitions, visitor feedback was shared with the artists and their families. These encouraging words from policymakers, medical students, and scientists showed these children that their voices matter and that they can personally help raise awareness of HAE. Monika said, “For many children and teenagers living with HAE, this means a great deal as they feel seen, heard, and empowered to make a difference.”

Victoria’s personal experience as an HAEi LEAP student showed the value to an individual beyond advocacy. She remembers learning many skills she can use in her professional life, such as managing social media, developing a website, speaking in public, and conducting media interviews. Victoria acknowledged that these are also vital skills to help a young person grow as an advocate. She found the whole program really well-informed and put together.

Hearing these inspiring stories, Natasa asked Sarah about her hopes for the next generation. She said that with vastly improved treatment now and in the future, there may be less motivation for people to get involved in advocacy. But she has seen many young people stepping up to become active in HAE Spain, which is important to protect the achievements made to date and to fight for a better tomorrow.

Natasa asked Monika the same question. Monika saw that as HAE becomes a manageable condition, the next generation has the chance to reach their full potential. In time, she hopes that there will be top athletes, artists, scientists, global leaders and maybe Nobel Prize winners with HAE.

Victoria’s hope for the future was rooted in HAEi LEAP’s success. She praised Nevena and Debs from HAEi, who lead the program, and feels a sense of hope with every generation that takes part. As part of the HAEi Youngsters’ Community, Victoria also sees how, every day, young people talk, connect, and support each other. It is this ability for everyone in the community to learn from one another that inspires her.

For Sarah, her final thought encapsulated the session and the aim of HAEi LEAP. She told the audience, “We all need to educate children. Don’t hide information from them. Through education, they will develop the skills to carry on and take over.”

Member Organization spotlight: It all starts with good practices

After a well-earned coffee break, the next session focused on another key Member Organization (MO) priority: How to set up good governance and the difference this can make to patients and carers.

The moderator for this panel discussion was Michal Rutkowski, joined by Evelien de Bruin from HAE Australasia, Peter Strahl from HAE Hungary, and Olena Mykal of HAE Ukraine, all of whom brought their own experience of putting in place principles to support good governance.

Michal asked the panelists why good governance principles are important to them. Peter, Evelien, and Olena all agreed that greater trust results from good governance. Evelyn suggested this was especially important as there are so many stakeholders involved: patients, carers, healthcare professionals, governments, and pharmaceutical companies. They all need to believe in and trust an organization before they can work together.

Olena explained that the basis of trust is transparency. A well-run organization is transparent in its dealings and activities, which are clearly visible to everyone.

Peter concurred, believing that a clear policy, with a mission and goals, means the organization dedicates its efforts to serving patients, which is consistent even if personnel or volunteers may change over time. Peter shared some concrete examples from HAE Hungary. He started with the three elected officials who jointly make decisions on behalf of their patients and registered members. They are also clear with these decisions through their website and social media channels.

According to Evelien at HAE Australasia, the organization’s legal registration is very important. Their MO is a charitable organization that confers tax benefits, but it also defines what the organization can and can’t do. Abiding by these conditions is important, and is guided by a five-person board of directors that hosts annual general meetings, takes notes, and reports its finances to ensure the all-important transparency.

Olena expanded on how to retain the community’s confidence. She suggested that communication is paramount; it is important to communicate openly and transparently with a clear single message for all stakeholders.

Michal invited Peter to consider how strong governance opened up opportunities for HAE Hungary. His perspective was that a transparent and professional organization will always receive more opportunities for collaboration, something which Evelien agreed with. In Australasia, the distances to travel to meetings are vast. By establishing clear financial processes and objectives, they developed the necessary proposals to secure financial support from pharmaceutical companies in the region and to follow up with a report demonstrating how the organization used the funds, fostering further trust.

For Ukraine, their organization can work with the Government and the pharmaceutical industry to address the registration of medicines for patients, which is only possible because of their clear governing principles.

Finally, Michal asked the panel to share their advice to other organizations. Evelien suggested that documentation was a vital first step. “Write everything down,” she advised. “When you are developing your mission and your strategy, write it down.” She felt documentation meant everyone could see and understand it, thereby building the organization’s long-term sustainability. Peter felt that a simple structure was helpful, but keeping finances in mind was important, as this puts the organization on a long-term footing.

Michal concluded by thanking the panel and summarizing that good governance isn’t just about rules, it is about trust, sustainability, and credibility, which are critical to effective advocacy. He also reminded the audience that HAEi has produced Principles for Good Governance, which you can find here.

Member Organization spotlight: Regionalizing advocacy to better reach patients and carers

Fanny was the facilitator for an all-female panel, comprising Member Organization (MO) leads from the Netherlands, India, and Poland. The topic for discussion was how RPAs support MOs and how individual countries could replicate this example to meet local and regional representation needs.

Turning first to Ravleen Kaur from HAE India, Fanny asked about the regional representative model in the country and the motivation behind it. Ravleen told the audience that India’s vast scale, as well as the unique needs of different states and regions, such as language, meant that they could not support every patient with a small central team. As a result, they worked to establish on-the-ground contacts who understood the local language and healthcare system, and provided a point of contact for patients whenever required.

Dominika Słodka suggested that the work of HAEi RPAs inspired HAE Poland. Their organization has grown rapidly, and they needed to maintain proximity to their members. In a similar way to the Indian experience, having local people on the ground enabled connection at a more personal level. Asked about practical considerations, Dominika suggested that COVID had led them to more virtual meetings to keep regional advocates informed, and this has now become monthly calls, which work best for them.

In India, in practice, State Representatives become the first point of contact for patients. So as soon as someone new contacts the organization, they speak with that person and are guided by them to doctors, diagnoses, etc. The system in India is still evolving to serve HAE patients, and there is a lack of good clinics. As a result, the representative is there to support and guide them within the health infrastructure.

Shifting towards the role of the HAEi RPA, Marijk Beekman-Kortekaas from HAE Netherlands explained how her relationship with her RPA had changed over time. When Marijk first started, she was new to advocacy. Her RPA at that time, Michal, provided vital introductions to people, which really helped her gain knowledge and confidence. Now, she works in partnership with her RPA, Maria Ferron, sharing ideas and insights. Maria challenges her to progress her thinking, and is there whenever needed. Sometimes this will be daily contact. She suggests this support is especially helpful in the Netherlands, a small country that benefits greatly from the wider European region.

In India, according to Ravleen, her RPA, who incidentally is Fanny, supports by bridging the gap between the MO and pharmaceutical companies. Her experience helps connect Ravleen with other organizations and share what is working for them, which is a great help for a growing organization like hers. Dominika’s perspective on her RPA was that it’s important to know that someone has your back. There’s always someone there to help you.

‘HAEi RPAs - it’s a huge benefit knowing there’s always someone just one phone call away, who’s willing to help you.’

– Marijk Beekman-Kortekaas, HAE Netherlands

Member Organization spotlight: Member Organization Growth & Impact Summit

Last year, HAEi launched a pilot initiative, the Member Organizations’ Impact Growth Summit (MOGIS), which brought together Member Organizations (MOs) from South America and Mexico for a working meeting in Brazil. On stage to discuss what participants gained from the MOGIS meeting were Alejandra Menendez of HAE Argentina, José Ignacio Contreras of HAE Chile, and Ana Cristina Rojas of HAE Colombia. The session was entirely in Spanish, with simultaneous translation provided via the Wordly app.

HAEi RPA Fernanda de Oliveira Martins, the session facilitator, asked the assembled MO leads about their motivation for taking part. Alejandra said that she believes that no single country has the solution to all the problems we face. She said: “Coming together is always a learning experience, not only to pass on years of experience but also to hear about other realities and see how we can collaborate to resolve issues.” For Ana Cristina, the draw to attend was the opportunity to strengthen their association and learn from others, just like Alejandra.

‘It’s very important that we stand united so our voice is stronger and we can continue to have access to medications. All the visibility we can achieve in South America is very important. The industry helps us scale up and gain greater visibility and a stronger voice.’

– José Ignacio Contreras, HAE Chile

The most valuable aspect of the meeting was the next subject for discussion. Ana Cristina felt that, in addition to the exchange of experiences and collaboration, the feedback inherent in the meeting structure enabled her to see her own organization from a different perspective.

José was pleased to see how similar the needs were and how connecting with other organizations helped. A key learning from the meeting was how to really embrace the tools offered by HAEi, such as HAEi Connect. Meeting in person with Fernanda, as well as Michal and Fiona, meant a lot to Alejandra, as it gave time for a full discussion of all HAEi support available.

A key element of the meeting was each organization’s creation of a 12-month roadmap. This was valuable for Ana Cristina as it provided clear objectives, priorities, and defined plans of action. This ability to precisely define the organization’s priorities was similarly valuable to the other MO leads on the panel.

The need to build in flexibility was top of mind for the whole panel. External factors can cause things to slow down, Ana Cristina felt, leading to a need to reorganize and restructure. With a long-term plan in place, you can adjust to changing circumstances, a sentiment with which José agreed.

Global Perspectives covered the MOGIS meeting in an earlier edition. You can read that article here.

Member Organization Collaboration Forum

On the first afternoon of the 2026 Global Angioedema Leadership Conference, the audience joined breakout sessions led by their RPAs. These sessions were planned to be more tailored to countries’ individual needs and issues and took the form of smaller, focused workshops, brainstorms, and discussions.

Global Perspectives dropped in on all these forums to get a flavor of the discussions and hear what really mattered to people. What was clear from all sessions was the appetite to learn more about HAEi’s tools and resources. In every group, live sessions helped Member Organization (MO) leads to get to grips with everything from adding patient data to HAEi Connect to encouraging people to use HAE TrackR.

Photo gallery: Enjoy a selection of snapshots from the breakout sessions – visit the password-protected photo gallery.

Password: galc2026.

Welcome to day two

After Fiona and Jørn briefly recapped day one and welcomed everyone back for the second day of the conference, the two HAEi Executive Team members introduced a full day of sessions and panel discussions on the theme of driving change worldwide.

Make a difference – driving change worldwide – registering organizations

The first session began at the start of an organization’s advocacy journey, covering the process of officially registering the organization. Fernanda de Oliveira Martins chaired the session, which heard from Member Organization (MO) leaders from the Dominican Republic, Ireland, Türkiye, and Paraguay.

Fernanda posed the first question to Ersan Sevinç from HAE Turkiye: What are the benefits of formally registering your MO? He responded that it represented the first step in establishing the organization’s credibility among the many individuals and groups it needed to reach. He referenced meetings with the Ministry of Health, which he felt just wouldn’t have been possible without them knowing that the HAE advocacy organization they are speaking to is a legitimate counterpart.

Turning to Yujin Yamamoto from HAE Ireland, Fernanda asked about their ongoing journey towards becoming registered and what prompted them to start the process. Yujin responded that registration was the means by which the organization could conduct more awareness-raising activities, as it would unlock sources of funding that would be unavailable to an informal organization. Ersan reinforced this benefit: “If we had not registered the organization, we would not be able to find funds or get funded by the different grants we have in the country.”

From HAE Dominican Republic, Andry Batista said the registration process has been ongoing for more than a year, with much time spent completing documentation and waiting for Government agencies to review it. Despite this, he encouraged people not to be discouraged, as the eventual benefits will mean people with HAE, like his own sister, can live better lives.

Yujin added to that point when asked about the process. He said that neither he nor HAE Ireland National Contact, Bettina, is a lawyer or tax accountant, so they sought out that expertise from firms that specialize in supporting not-for-profit organizations. There was a cost involved, supported by HAEi. Sometimes large companies do this work for free, and that’s worth exploring.

Concluding the session, Nathalia Portillo of HAE Paraguay told the audience that it is important to work step-by-step and progress a little at a time. She said the Paraguayan organization is already seeing the benefits.

‘I encourage any organization to engage with HAEi; they offer vital support and motivation with the registration process.’

– Nathalia Portillo, HAE Paraguay

Make a difference – driving change worldwide – the power of online visibility

The HAEi offers a service to all Member Organizations (MOs) that allows them to have a bespoke website produced in their local language(s) and hosted, completely free of charge. As the conference heard, the vast majority of MOs use this service, and four of these joined Patricia Karani on stage to tell their experiences.

Marjia Nikolic from HAE Montenegro told the audience that she felt very proud of having a website in her local language. It has enabled the organization to centralize its information, so people can find what they need. In addition, it has greatly helped people in Montenegro to learn more about the condition and the organization itself. She felt that their website gives HAE Montenegro greater visibility and that official decision-makers take them more seriously.

Fatoumia Said from HAE Comoros agreed that their online presence has definitely influenced how stakeholders perceive the organization. In addition, the website is a constantly available source of information and reassurance for patients.

Marjia returned to the importance of the website being in her local language, as few of their members speak English. Local language information was especially important for Yousra Seflioui from HAE Morocco, as people in her country speak Arabic, French, Moroccan Arabic, and sometimes a little English. Being able to offer information in all the relevant languages to people in the country is very powerful.

Patricia asked Fatoumia about the impact of having an HAEi-hosted website. Fatoumia said that it represents hope for recognition and that people can know that they are no longer alone in facing the disease.

‘A potential HAE patient who had initially been diagnosed with asthma thanked HAE Comoros for providing HAE information online. Without it, he would not be able to get answers about his condition.’

– Fatoumia Said, HAE Comoros

Patricia thanked all the participants for their time and insights. She reminded the audience that HAEi has a dedicated team of specialists to help them develop a website. You can find more details and contact HAEi here.

Make a difference – driving change worldwide – how to work best with pharmaceutical industry partners

HAEi RPA Yong Hao Lim led the next session, which focused on how Member Organizations (MOs) are working with the pharmaceutical industry. Joining him were Francisco Sánchez Hernández from HAE Spain, Renata Marchese from HAE Brazil, and Angela Metcalfe from HAE UK.

Renata kicked things off by telling the audience how the relationship with the pharmaceutical industry helped kickstart the Brazilian organization. She said that their MO was introduced through clinicians they worked with and via HAEi. Working with the pharmaceutical industry has meant access to financial support and expertise that really helped them as an organization. It is the means of sustainability, not just of existing as an organization.

The Spanish situation was somewhat different, Francisco noted. HAE Spain has been around for 28 years. Sarah Smith was involved in building a network of industry contacts some years ago, which they still use today. Because HAE Spain is well-established, the pharmaceutical industry regularly approaches them. It is constructive, as due to the Spanish legislative situation, both pharmaceutical companies and the MO must work together to apply the necessary pressure to secure Government action on new treatments.

HAE UK also has a long history of working with the pharmaceutical industry, Angela said. Initially, as in Brazil, the connections came from doctors who told them about new medicines coming through and encouraged them to contact the company. That has now developed into a really important source of funding and support for their projects and campaigns. HAE UK and the industry are currently working together on projects to improve shared decision-making and also produce guides to mental health issues for people with HAE and those who care for them.

Another big plus from working with the pharmaceutical industry, according to Angela, is that you can really understand how a medicine works. It is really helpful, Angela felt, because it means you have the knowledge needed to talk with clinicians.

The changing landscape of HAE management has led to a shift from merely talking about medicine to addressing issues like mental health, Francisco suggested. Whereas projects would historically rightly focus on saving lives, it can now be about quality of life and supporting people to live a more normal life with HAE.

The group discussed the importance of having an international presence. The position of HAEi means there is strength in numbers worldwide, and it unlocks more opportunities to work with pharmaceutical companies than just one MO.

Francisco suggested the metaphor of a triangle. On one side is the patient association, on the second is the clinicians, and on the third is the pharmaceutical industry. Only by nurturing relationships and partnerships between the three groups, will people with HAE have better treatment and more normal lives.

In terms of advice for other MOs, Renata suggested that working with any pharmaceutical company is possible as long as help is given and accepted ethically and transparently, with relationships and financial support clearly declared. Angela echoed that sentiment. She said that in her experience, the pharmaceutical industry is not trying to sell you their product. Working with them means you and your patient community know more about available and forthcoming HAE medicines, which will help patients get the treatment that’s right for them, which is the goal of both the industry and every MO.

Make a difference – driving change worldwide – the power of HAE TrackR and HAE Companion to improve patients’ lives

A short question-and-answer panel session focused on HAE TrackR and HAE Companion, two tools designed to put patients more in control of their condition and their lives.

HAEi Regional Patient Advocate (RPA) Maria Ferron asked questions of Natasha Jovanovska from HAE Macedonia, Ann Helen Hellevik from HAE Norway, Troyce Venturella from the US HAEA, and Estera Białek from HAE Poland.

Everyone on the panel had seen firsthand the value of HAE TrackR and HAE Companion for patients in their country. Natasha felt that HAE TrackR had significantly changed and improved the way HAE is managed and treated in North Macedonia. Home administration of medication is allowed in the country, but patients must return empty vials and record their attacks. HAE TrackR provides an excellent way to do this, and they recommend it to all patients. Additionally, a user can use the app to compile these records into a report that physicians can review with the patient to assess how well their HAE is managed. The data also provides an opportunity for them to advocate for medication changes, for example, starting prophylaxis medicine where the data shows a patient is suffering a lot of attacks.

Troyce shared Natasha’s endorsement of HAE TrackR, noting that it also offers medication reminders. If someone is experiencing many breakthrough attacks, patients can share this information with their clinician.

Having HAE TrackR with you at all times, because it’s on your phone, was another big plus for the panel. Natasha remembered how hard it used to be to remember attacks, which almost always happened away from the clinic. Now, it turns a conversation with your doctor into something practical and evidence-based rather than just vague recollections. Ann Helen suggested that when patients are having a good period, it can be easy to forget. With HAE TrackR, it’s possible to achieve genuine shared decision-making, which has been the subject of many discussions throughout the conference.

Patients who are well controlled can also benefit from HAEi’s apps, Troyce suggested. One of the first things patients want to do when their HAE is under control is to think about travel. HAE Companion provides details on all HAE resources in a country, enabling people to plan and feel confident when they travel.

Maria asked Estera how she encourages patients in Poland to use these apps. She said that the daily reminders and practical help are very welcome, but equally important is the security of every patient’s data. She felt that the level of data security offered by the HAEi apps is much higher than that found in many hospitals, and that only the patient can ever use the data in the app.

Estera told the MO leaders present that the HAE TrackR has helped patients to gain better control over their condition.

‘HAE TrackR increases safety, awareness, and the patient’s quality of life.’

– Estera Białek, HAE Poland

Make a difference – driving change worldwide – accessing medications

The learning kept coming, with a session looking at the issues and challenges facing a selection of Member Organizations (MOs) as they worked to establish access to HAE medication in their countries. HAEi RPA Javier Santana spoke to representatives from HAE Costa Rica, HAE Serbia, and HAE Peru.

In Serbia, according to Sladjana Stamenkovic, access to a number of HAE-specific treatments is available, and some patients are participating in clinical trials. She puts this success down to the public awareness campaigns the organization has run over many years. A post about HAE from their country’s President led to a lot of media interest, with hundreds of articles in newspapers and TV shows eager to speak with people with the condition. As a pharmacist, she also recognizes the importance of educating healthcare professionals.

The panel also agreed that it is essential to build external support, especially among key decision-makers such as healthcare professionals, representatives from government, and, as mentioned earlier, journalists and the media, to ensure HAE remains visible. The community depends on cooperation between patients, healthcare professionals, and the pharmaceutical industry.

Carla Boulanger provided an overview of HAE medications in Peru; although two recently registered HAE medications are available, patients still do not have access to them. HAE Peru has been working for seven years now to gain access. She explained that in Peru, the country’s governance is subject to frequent change, which can set back campaigning. There are laws and budgets for rare diseases that give reason for optimism. Still, until pharmaceutical companies feel it is worthwhile to enter the Peruvian medical system, it will be difficult to gain access.

In Costa Rica, there are four available treatments, Istina Monturiol told the audience. Two of them were recently approved, after ten years of campaigning. All three speakers stressed that, despite the time it has taken to make progress, no matter how small, they remain persistent and forceful with their governments and health systems. The support of the HAEi has been very helpful, and they will continue working to secure more and better care for people with HAE.

Make a difference – driving change worldwide – working with health ministries

Building on the previous session, Natasa Angjeleska invited Verce Jovanovska Jankovska from HAE Macedonia, Michelle Coronado from HAE Panama, and Silvana Alkoci from HAE Albania to discuss their experiences working with health ministries to advance campaigning for access to HAE-specific medication.

The panel discussed that their efforts began with meetings where they had little more than hope that things could improve. Individual voices were easy to ignore. In North Macedonia, that all changed when the HAE organization partnered with other rare disease organizations to create a unified voice for all rare diseases. Eventually, this led to an invitation from the Ministry of Health. All of the panel members agreed that it was hugely important to work together with other individuals and organizations, both within their country and internationally, such as HAEi. Collaboration amplifies a small number of voices into something much more powerful.

For Michelle, working with health ministries in Panama represents a particular test of patience. While their initial meetings were positive, with officials hearing about patients having severe attacks and even deaths, everything happened extremely slowly, and often personnel would change, making it feel like there had been no progress.

Silvana had the advantage of having worked at the Albanian Ministry of Health. This experience enabled him to articulate a clear platform of needs, as there had been no HAE treatment in the country for over 30 years. “This cost us lives,” Silvana said, and shared that he personally felt the absence of treatment as he had suffered from life-threatening attacks.

The support of a doctor or group of doctors was certainly an important element in working with government officials, according to the panel. In Panama, the situation was complicated when the country’s rare disease coordinator changed four times. Michelle admitted feeling totally discouraged, but she thought of children with HAE and how important it was for them to have a better life.

The panelists couldn’t overstate the importance of more than just emotional stories. For Silvana, this meant showing health officials that, by joining the EU, there would be a requirement to provide better care for people with rare diseases like HAE. In North Macedonia, every Monday morning, the group sent emails to the health authorities detailing the previous health issues faced by the country’s HAE community.

Eventually, with consistency and persistence, it was possible to open doors and to be heard by officials from their respective health ministries. Panelists also highlighted the help and support of many people within HAEi. Tony and Henrik, for instance, showed the way to many.

Silvana is proud to say that prophylactic medication is now available in Albania, saying, “I was the first patient to receive it last April.”

Make a difference – driving change worldwide – increasing patient engagement

HAEi RPA Maria Ferron led this panel session, joined by Michelle Cooper from HAE Canada, Makiko Matsuyama from HAE Japan, Lisa Facciolla from the US HAEA, and Tiina Kortesmäki from HAE Finland. The topic for discussion was the complex issue of getting and maintaining patient engagement with advocacy activities.

Fostering patient connections is clearly top of mind for all Member Organization (MO) leaders, none more so than those at the HAEA. Lisa made clear that everyone in the HAEA takes building an HAE family very seriously. It means that HAEA delivers every interaction, every program, and every service with compassion, empathy, kindness, and welcome. The aim is to make sure everyone who interacts with HAEA feels heard and supported, as that is the foundation of engagement.

Michelle from HAE Canada remarked that she’d felt that energy at HAEA events. In Canada, their issues with patient engagement are sometimes more related to the country’s size and its small population, who often live in rural or remote areas. To make a connection, she outlined three key points to address:

• First, people have to be able to find them. Their website and social media are prime tools, but they also partner with specialist clinics that make many referrals to them.
• Secondly, building a relationship. Every new member is contacted personally by someone within the MO to build a relationship.
• Thirdly, connecting individuals. Regional patient meetings, newsletters, and attending HAEi conferences are all great ways to bring people together.

Thinking more about the global patient community, Michelle paid tribute to the work of HAEi, saying that HAE Canada would not be here without them. In particular, she paid tribute to Tony Castaldo for his support. Tiina echoed this sentiment and thanked Henrik and Jørn for their support on behalf of everyone in Finland. Their help and the support of HAEi meant it was possible to set up an organization in such a small country.

The evolving nature of patient engagement was the next element discussed. Lisa agreed that people’s needs are shifting. To stay on top of that, they regularly listen to the community to uncover gaps and what people want and need. One example was a discussion during a youth training event about what is missing. The response focused on technical language, medical terms, and their meanings. As a result, HAEA developed simple videos to explain the science of HAE to young people and their parents. Lisa told the audience that the project simply wouldn’t have happened if they weren’t listening to the community. In a later break, the audience was treated to a sneak preview of one of the videos, which introduced the cast of characters behind HAE and attacks. We’ll all find out more on hae day :-)!

Makiko from HAE Japan was keen to stress that changes to HAE management had affected people’s expectations and needs. What patients wanted ten years ago is not what they expect now, she said. It is especially the case in major cities and for HAE with C1 inhibitor deficiency (previously known as HAE type 1 and type 2), where doctors provide extensive knowledge and access to medication. However, for HAE with normal C1 inhibitor and in regional cities, knowledge is more limited. As a result, some of the MO’s activities are shifting to helping patients in rural areas access treatment. They are also keen to stress the benefits of attending events, as they offer the opportunity to participate in global conferences, which is a big draw for Japanese people.

Turning attention to building trust as a key component of engagement, Michelle shared US author Charles Feltman’s four elements of trust: Care, sincerity, reliability, and competence. She said that this guides HAE Canada in all aspects of its work. For Tiina from HAE Finland, trust is built through constant communication and being as accessible as possible. They have distributed guides to 68 hospitals across Finland and reached out to many newly diagnosed patients and their families, offering humanity and compassion when they are shy and afraid.

Bringing the session to a close, Lisa remarked on the fantastic value of the HAEi LEAP program, as this really provides a way to engage with young people and future advocates. Makiko suggested that, as it is not common in Japan for people to build communities like this, it is important to promote the value of connecting with others.

Make a difference – driving change worldwide – translating HAEi guides and booklets

After a short dance break led by Michal Rutkowski, the audience was re-energized for the last sessions before lunch. First among these was a discussion of the value of having native-language patient information materials. HAEi RPA Yong Hao Lim discussed the topic with Konstantin Tzvetkov from HAE Bulgaria, Helene Saam from HAE Switzerland, and Nan Zhang from HAE China.

Yong Hao started by asking about the difference having patient information in local languages makes, especially in countries like Switzerland where multiple languages are spoken.

Helene agreed that because of the multiple languages spoken in Switzerland, not everyone speaks English well. That makes it important that medical information is available in multiple languages so patients can better understand their illness. She said that many patients tell her that brochures, such as the HAEi booklet Women with HAE, really help them explain their illness to family members, employers, and teachers. Nan Zhang, whom Yong Hao respectfully referred to as Madam Zhang, agreed, saying that addressing the specific needs of women with HAE is important in China, and that they are grateful to have the booklet in translation.

For Konstantin, the benefit is especially strong in the emergency room. When diagnosis and treatment need to be quick and efficient, having all the information readily available creates a kind of bridge. He told the audience that information about HAE makes up such a small part of a doctor’s medical knowledge, and bringing materials in the native language really helps a lot. Helene concurred with this, even outside of the emergency situation. She felt that, as consultation times can be short and there is little time to explain, doctors like the organization’s booklets and hand them out to newly diagnosed patients. That way, she said, people can read through everything at home, and it also improves communication between doctor and patient.

Madam Zhang explained that having HAE information in Mandarin means they can post on Chinese social media channels such as WeChat and Douyin, as these are the channels people rely on for information.

In terms of the impact of translated materials, Helene suggested that they give patients more confidence, as they better understand their condition. The ability to explain their condition in plain language was a benefit for Bulgarian patients, according to Konstantin.

In the future, Madam Zhang wanted to address the stigma often surrounding rare diseases like HAE. She suggested that there is blame attached to the mothers of children with HAE, and that this should not be the case. She hoped for a resource that encourages people with HAE not to feel different from others; with medicine, they are just like everyone else.

Finally, Konstantin made it clear that, for him, the purest need for translated materials is in smaller countries whose language not many others speak. He said Bulgarian is rarely spoken outside their country, and that through HAEi, they can have great information on HAE freely available in their language.

‘Thanks to HAEi’s translated materials, even with 100 different languages, we can all understand each other.’

– Konstantin Tzvetkov, HAE Bulgaria

Talking treatment: Current and future medications for HAE

Joining the 2026 Global Angioedema Leadership Conference patient track from the scientific sessions was Professor Philip Li from the University of Hong Kong. Having watched the audience enjoy their dance break, Prof Li was happy to say that with disco music, this room was cool!

Returning to serious matters, Prof Li confessed that he can only share the perspective of a doctor. He can’t know what it’s like to live with HAE. The experts in that are the people in the room, the patients and carers. He told the audience that his job today is to talk about all the medications for HAE, from established therapies that have been around for many years to drugs in clinical trials.

He started by reminding the audience that HAE is a condition defined by leaky blood vessels. It is this, he said, which causes the swelling in HAE. He showed an image of the full pathway of what happens in an HAE attack, from kallikrein at the top to bradykinin at the bottom. He admitted that this might seem complicated, but it all starts with Factor XII (12), which ignites the whole kallikrein system, beginning with pre-kallikrein, then kallikrein, and finally high molecular weight kininogen. Ultimately, this leads to the overproduction of bradykinin and to the leaky blood vessels. All therapies that are here today and in the future target something in this system, Prof Li advised. Of course, he said, there are differences in the types of HAE people have, but in types 1 and 2, there is a problem with a protein called C1 esterase inhibitor; either the body doesn’t produce enough, or it doesn’t work properly. Without enough C1-inhibitor, the system overproduces bradykinin, creating a vicious cycle of attacks.

Turning to the medicines that target this system, Prof Li started with a warning. He said that in many countries, especially in Asia, people still use a lot of anti-allergy medication, which is completely wrong. It can look like an allergy, but you cannot treat HAE with medicines for allergic reactions. At best, they do no good and can be potentially harmful.

Moving back to specific medication for HAE, Prof Li used the well-known categories: on-demand, taken when an attack has started, and preventative, which reduces or eliminates attacks.

The first treatment in the expert guidelines for HAE, which Prof Li admitted were sometimes more aspirational for patients in many countries, is C1 inhibitor, which replaces the protein that is lacking in HAE patients. C1 inhibitor can be obtained from donated blood (plasma-derived) or from rabbits (recombinant). With the latter, people who are allergic to rabbits cannot use this medicine. A potential challenge here, Prof Li said, was that the treatment is injected into the bloodstream (intravenous or IV), which can be inconvenient. However, positively, these medicines can be taken by people of all ages and in various situations, even by pregnant women.

Alternatively, instead of replacing C1 inhibitor, medicines to stop attacks can target the end problem: bradykinin. An example of this is the medicine icatibant. You can self-administer this medicine after training. The earlier you use it, the better the response and the faster the attack is resolved. Another on-demand option is ecallantide, but this is restricted to use in the US.

Moving on to preventive treatment, or prophylaxis, Prof Li said we see some IV C1 inhibitor medicines again. Some preventive treatments can be injected into body fat (subcutaneous injection), which makes it easier to administer. Therapies like lanadelumab and subcutaneous C1 esterase inhibitor are examples. Berotralstat, which Prof Li said is not currently available in China, is another preventative medicine. It is a tablet and works against kallikrein.

Back to the future

Turning to the future, Prof Li outlined how HAE management is moving increasingly towards complete control and normalization of life. He said that doctors want patients to be in control of their disease. He recalled a patient who had access to icatibant but would save the medication due to concerns about cost or reserving it for her children’s attacks, and so would often be in the hospital due to attacks. Thanks to joining a clinical trial, when she has an attack, she treats it with a pill, and the attack resolves. That’s one thing that’s new on the HAE landscape, the on-demand pill in the pocket. An option called sebetralstat is now available in some countries. Another, called deucrictibant, has shown effectiveness in trials and is awaiting approval from authorities.

‘The future of the HAE medication landscape really is personalized care.’

– Prof Philip Li, University of Hong Kong

Moving on to the latest in prevention, there is garadacimab. It is a monthly injection to prevent attacks. Another, donidalorsen, targets the prekallikrein system mentioned earlier. It uses ‘anti-sense technology’ and needs to be taken once monthly, with the potential for this to become once every two months. According to Prof Li, we get closer to the goal of normalization when people don’t have to think about their disease for long periods. He suggested these new and forthcoming treatments are effective with freedom from attacks and improved quality of life. Referring back to deucrictibant, he also suggested this oral medicine may be effective as a preventive, with trials ongoing. Finally, he mentioned the potential of gene therapy to eliminate the problems of the kallikrein system, although this may sound scary. For people in current clinical trials, it has made a huge difference.

Recounting another patient, Prof Li explained how personalized care means understanding what each patient needs and wants. In China, he said, there is reluctance among some to take Western medicine in pills due to a belief that it damages the liver. In one patient, this meant she stopped taking one of the latest oral medications, leading to a return to many attacks. By talking with and understanding the patient, they found a solution. This patient moved to an injectable medicine, which was much more acceptable and led to her becoming attack-free.

In closing, Prof Li praised the advocates in the room for their hard work. He said that the work of the Hong Kong Member Organization is the only reason patients have reimbursed medication.

‘HAEi Member Organizations are the engine of change.’

– Prof Philip Li, University of Hong Kong

All about HAE with normal-C1 inhibitor

An increasingly important aspect of HAE management and advocacy is to support a very special group in our community, Tony Castaldo told the assembled HAE advocacy leaders. For that reason, he welcomed Professors Sandra Christiansen, Marc Riedl, and Bruce Zuraw onto the stage. All three specialize in the care of people with HAE at the University of San Diego and were central to the HAEi and HAEA-supported efforts to develop expert consensus on the diagnosis and management of people with HAE with normal C1, published in 2025.

Tony facilitated the discussion around a set of key questions. Tony started by asking Dr Riedl about the differences between HAE with normal C1 inhibitor and HAE with C1 inhibitor deficiency or dysfunction. Dr Riedl indicated some key elements:

• People get severe protracted angioedema symptoms, but the first difference is that HAE with normal C1 affects many more women than men
• HAE with normal C1 inhibitor seems very sensitive to the hormone oestrogen, to the extent that occasionally removing any oestrogen-containing medication is enough to stop the symptoms
• The onset of symptoms seems to be during adult life, after the 20s and into the 30s and 40s. It differs from HAE types 1 and 2, which are more commonly seen first in children and teenagers.
• The location of the swelling seems to be different. With HAE with normal C1, there is more facial, head and neck swelling, and less abdominal symptoms and extremity swelling. For instance, in one variant called HAE plasminogen, there are prominent tongue swellings.
• Patients with HAE and normal C1 are less likely to have a strong family history, Dr Zuraw added. Men may be less affected and therefore appear to be ‘silent carriers’.

Dr Zuraw outlined the diagnostic criteria for HAE with normal C1 inhibitor. He acknowledged that diagnosis has long been a concern in the community. He said: “In a nutshell, we don’t have a good way to make it so you go in and see a doctor and walk out knowing the diagnosis. It’s a series of steps that the doctor and patient have to go through.” He outlined the steps as:

• If someone has recurrent angioedema, we measure C1 inhibitor and C4 to exclude HAE types 1 and 2.
• If that comes back negative, we will trial drugs for mast-cell (allergic) angioedema to see if they help. If that doesn’t work, then medicines such as montelukast or omalizumab are tried. All of this may take many months to rule out mast-cell involvement.
• If a strong family history is identified, the diagnostic path might immediately turn to genetic testing.
• Finally, medicines like icatibant are used to see if attacks respond. Genetic tests will likely be done at the same time. If the medicines work, then it’s bradykinin sensitive and an initial, tentative diagnosis of HAE with normal C1 inhibitor can be suggested. Then, if a known genetic mutation is identified, it can be confirmed.

Dr Christiansen reflected that the length of the answer Dr Zuraw needed to give was an indication of how complex it is to receive a diagnosis of HAE with normal C1. She described the need for biomarkers and laboratory tests that could confirm the presence of this type of HAE in a person. As mentioned earlier, a family history can even complicate things due to ‘incomplete penetrance’ (meaning that not everybody who you might think will exhibit the disease will show it). There are only six currently measurable genes and two more that also lead to hives, which means only a very small fraction have a known genetic variant.

Building on this, Dr Christiansen discussed the importance of genetic testing in HAE with normal C1 inhibitor. It varies greatly depending on where someone lives and the access to the tests. In the US, genetic testing is available, but even as it becomes more affordable, it remains out of reach for some people and some countries.

To the follow-up question, ‘Why is it important to look for genetic mutations?’ Dr Christiansen responded that if a faulty gene is found, it will be important to screen everyone in a family.

Turning to Dr Riedl, Tony asked why so many genes are implicated in HAE with normal C1 inhibitor. In his response, Dr Riedl referenced the six known genes and two others that may be involved. He described the system, which you can read about in Professor Li’s talk, as complicated, with many different places where it can go wrong, leading to problems with the bradykinin system and swelling attacks. He reminded the audience that historically, HAE with normal C1 might have been called type 3 HAE, but it is not a single type of HAE; rather, it is an umbrella term for many different genetic conditions.

The next question posed to Dr Zuraw was ‘What is the mediator for swelling in HAE with normal C1 inhibitor?’ Dr Zuraw highlighted that scientists are clear it’s not mast cells, and bradykinin is suspected as the mediator, borne out by the fact that medicines like icatibant seem to have an effect. Dr Zuraw said: “At the heart of it, I think, will be bradykinin.”

If a family doesn’t have a history of known mutation, what type of angioedema do they have? 

Dr Christiansen reminded the audience that even with HAE type 1 or 2, there is a one-in-four chance that no one else in a family will be affected. Some patients will have had a ‘de novo’ mutation in their genes, causing HAE. So, in HAE with normal C1, some patients may have no family members affected before. It may also be that some people, especially men, may have the gene defect but show no symptoms.

Tony asked: What are the on-demand treatments for HAE with normal C1 inhibitor?

Dr Riedl returned to the use of icatibant, as an indication that doctors use similar medicines as those for HAE with C1 deficiency or dysfunction. It includes C1 inhibitor concentrate and, in the US, ecallantide. Doctors lack large studies showing how effective these medicines are in HAE with normal C1, but the available data indicate that these medicines work about the same as in HAE types 1 and 2. In a similar vein, Tony asked about prophylaxis options for HAE with normal C1 inhibitor. Dr Zuraw suggested that, similar to on-demand, doctors largely turn to medicines developed for HAE due to C1 inhibitor deficiency. The main difference is tranexamic acid, which inhibits plasmin production, and this is useful because plasmin seems to generate bradykinin in HAE with normal C1. Additionally, due to the female focus of the disease, addressing levels of oestrogen, perhaps with progestin-only contraceptive pills, can help prevent attacks.

Taking this discussion further, Dr Christiansen suggested that with the Factor 12 variant, progestin appears particularly effective. The point of all this, Dr Christiansen said, is that as understanding improves, the likelihood of developing effective therapies will increase.

Still talking treatment, Tony asked: Why do treatments for HAE with C1 inhibitor deficiency work for HAE with normal C1? Using a video game analogy, Dr Christiansen suggested that in HAE with normal C1 inhibitor, the C1 inhibitor is swallowed up, or used up, during an attack.

Are there any clinical trials for HAE with normal C1 inhibitor?

The short answer, according to Dr Riedl, is no. Some patients were included in larger studies of ongoing treatment, but because diagnosing people with HAE with normal C1 inhibitor is difficult, there haven’t been any large clinical trials. At present, the focus is on ensuring reliable diagnostic tools are available before trials begin.

Might a laboratory test become available to make diagnosing HAE with normal C1 inhibitor easier?

Dr Zuraw acknowledged that this would be a Holy Grail, enabling accurate and quick diagnosis, but the answer is not yet. For a few patients, the genetic tests provide an answer. There are lots of people working on tests. Dr Zuraw concluded that he is hopeful, “I have to be optimistic that we’ll be able to develop such a test and finally be able to be much more effective in how we manage this disease.”

The last question was for Dr Christiansen. How difficult is it to obtain genetic testing for HAE with normal C1 inhibitor levels?

Dr Christiansen described the availability of genetic testing in their center as a luxury. They have their own laboratory and can also send it out to others. But you have to be able to access a lab and pay for the test. For some, we know it can be a big deal to have the blood samples taken, she said.

Tony concluded the discussion by reminding the Member Organization leaders present that this valuable information could help raise awareness and knowledge, and encouraged them to work with their physicians to ensure people with HAE with normal C1 inhibitor are well managed.