HAE in EMEA: Perspectives

The first session was a chance for representatives from countries in the diverse regions of Europe, the Middle East, and Africa to describe the local situation and their perspectives on HAE management.

Northern Europe

The representative from northern Europe was Ass Prof Emel Aygören-Pürsün from Germany. She started by describing a situation in Germany where around 1600 diagnosed HAE patients are treated in 22 centers. The German HAE patient association was one of the earliest patient communities, and the first HAEi meeting took place in the German city of Frankfurt.

Turning to treatment, Germany was able to access effective long-term prophylaxis in 2011, but C1-inhibitor concentrate had been available since 1979. Many modern forms of prophylaxis are now licensed and reimbursed in Germany, including home administration of intravenous C1-inhibitor. Studies indicate that home-based treatment led to earlier treatment and faster initial symptom relief.

Southern Europe

Dr Mauro Cancian, from the Conference host nation, Italy, spoke about the experience in Southern Europe.

He opened by acknowledging the fundamental importance of a good relationship between patients and clinicians to managing HAE. The ITACA network is the result of this in Italy, where doctors and patients collaborate to raise awareness and educate about the disease.

Dr Cancian highlighted in particular the efforts they make to educate pediatric doctors about the disease, as HAE is commonly spotted in childhood, but there is often a delay in diagnosis. There are now about 1150 patients diagnosed with HAE in the Italian HAE registry, with new patients added regularly.

For the management of HAE, Dr Cancian spoke of plasma-derived C1-inhibitor, icatibant, lanadelumab, and berotralstat. He expressed hope that garadacimab and sebetralstat will soon be available. Despite this positive picture, there were continuing issues, Dr Cancian said; the average interval from EMA approval to availability is 2 years due to price negotiations. There are also limits on treatment, with only more severely affected patients being prescribed certain medicines. Regional variations across Italy’s north, south, east, and west also limit access.

Africa

Dr Leith Belkahia from Tunisia was the representative from Africa. Speaking via video, he began by noting that before 2008, no cases of HAE had been reported in Tunisia. In the years since, 78 patients have been diagnosed across 15 families, which, he said, really supports the importance of family screening. Despite these advances, the average diagnostic delay remains 21 years, reflecting limited disease awareness and a lack of diagnostic tools.

In terms of management, Dr Belkahia indicated that a multi-disciplinary team of doctors and nurses has been trained to improve patient care, and dedicated weekly consultations provide specialized care to families with suspected HAE. Currently, there is only one laboratory (in Tunis) capable of conducting functional C1 inhibitor testing, which limits diagnosis.

Fresh-frozen plasma has been used successfully to treat abdominal and laryngeal attacks, and icatibant has received some approval.

A pilot project in which a small team of doctors travels to more remote parts of Tunisia to screen families for HAE was also described. This was described as a promising development, but Dr Belkahia concluded by saying that HAE remains a little-known disease in Tunisia, with a high mortality and a long diagnostic delay. He called for continued screening efforts and made clear that long-term prevention remains limited to tranexamic acid and danazol.

Middle East

The final perspective came from Prof Elham Hossny of Egypt. In contrast to the preceding situations, Prof Hossny told the audience about Egypt’s vast population, some 100,000,000 people. Despite this, she said, at her tertiary referral clinic, they have diagnosed 23 children. Her adult colleagues have identified around 38 cases. This lack of diagnosed cases, she suggested, can be attributed to a lack of awareness amongst healthcare professionals. However, the picture is improving. In 9 years, only 17 cases were diagnosed. In the last 18 months, there have been 6 children diagnosed with HAE.

Dr Hossny drew attention to the challenges of undiagnosed or late-diagnosed HAE. She referenced that 6 of her patients had a positive family history, and 5 of these reported a death in the family. Indeed, in one family, 3 children had died from HAE. This is why, she said, they are screening the families of children with HAE. They also screen patients with recurrent unexplained angioedema.

In terms of treatment, plasma-derived C1-inhibitor and lanadelumab are available, along with fresh frozen plasma and danazol. However, Dr Hossny indicated, not every patient can access long-term therapy unless they have severe attacks.

A major challenge for Egypt in managing HAE is the cost and availability of diagnostic tests. In pediatrics, Dr Hossny highlighted the significant impact HAE can have on the lives and ambitions of young people. One young girl told her she didn’t want to go to school as she feared attacks and had no treatment. But even in adults, the burden can be extreme. Dr Hossny described how she was moved to tears when a mother told her, ‘I saw my husband die in front of me from suffocation. I don’t want to see my child die.’

This burden is part of the reason Dr Hossny works so hard to support the HAE community. She indicated that she is in daily contact via WhatsApp with a group of more than 800 members who ask questions about HAE. Additionally, she and her colleagues in Egypt have already conducted 21 training events for healthcare professionals. Dr Hossny is a core part of efforts to improve care in the country.

Members of the Scientific Committee joined our presenters, and a panel question-and-answer session followed the four perspectives. Questions were raised about the pricing of HAE therapies, the availability of medicines in Gulf countries such as Oman, and the importance of implementing local guidelines for HAE treatment. Another topic for discussion was the risk of viral transmission using fresh frozen plasma. The panel suggested that this could be mitigated through robust testing of blood bank stocks.