This article is part of an extensive feature on the 2023 HAEi Regional Conference EMEA, published in Global Perspectives #2 2023
Co-chair Welcome, Saturday Morning
Opening the Scientific Track, the Co-Chairs of the Scientific Committee, Prof. Henriette Farkas, Prof. Petra Staubach-Renz, and Dr. Danny Cohn, welcomed the more than 120 attending healthcare professionals from all across the region, from Algeria and Armenia to Ukraine and Zimbabwe.
The Young Researcher/Investigator Award was presented to Dr. Remy Petersen from the University of Amsterdam. Dr. Petersen discussed the award-winning research in the first oral presentation of the Scientific Track.
The audience heard plenary talks from two HAE lead experts, and after that, there was a session to illustrate the hurdles physicians face and encourage discussion.
Click on each topic to read more:
Dr. Teresa Caballero took to the stage to present one of the two plenary talks. Focusing on diagnostic approaches, she indicated a wide range of classifications of angioedema and that diagnosis can be challenging.
She described four main diagnostic tools:
Anamnesis (Case history)
These include age of first symptoms, characteristics of the angioedema (such as color, temperature, any rash, duration, and frequency), presence of wheals or hives at any point, response to acute and maintenance treatment, and other symptoms.
Dr. Caballero also outlined the need to ask carefully about drugs used for other conditions, any potential allergies to food, alcohol, hormonal fluctuations, and reflux disease.
Physical examination
Of course, family history is vitally important, she told the audience, along with a full physical examination during an attack (with photos taken).
Blood analysis
Dr. Caballero outlined the value of different blood tests (including C1q/C3/C4 inhibitor, antigenic C1INH, functional C1INH, and Anti CiINH autoantibodies) in laboratory diagnosis of different forms of HAE and acquired angioedema.
Genetic study
Dr. Caballero discussed the value of genetic study in both HAE and HAE with normal C1-inhibitor. These were:
- Confirm HAE diagnosis in doubtful cases
- Differential diagnosis between HAE and Acquired angioedema
- Diagnose HAE with normal C1 inhibitor
- Diagnosis of relatives of patients with HAE
- Pre-implantation diagnosis of HAE in embryos
The seven known genes that cause HAE were outlined. These were L SERPING1, F12, ANGPT1, PLG, KNG1, MYOF and HS3ST6. SERPING1 is responsible for disease in an estimated 1,494 families. By contrast, for MYOF and HS3ST6, just one family had been identified with each genetic mutation.
In conclusion, Dr. Caballero described several ‘pseudo-angioedemas’ that can complicate diagnosis, such as an allergic reaction to using hair dye and cardiovascular problems leading to facial swelling. She left the audience with a slide describing a diagnostic decision tree with a wide range of differential diagnoses and required testing at each stage.
After the break, Associate Prof. Jonny Peter was invited to give the second plenary talk, which focused on diagnosing and managing HAE in low-middle-income countries.
A/Prof. Peter began by indicating that despite the success of ACARE, many countries still need an ACARE-accredited center, including 51 African countries and eight in Europe.
Using the Asia Pacific region as an example, he indicated that the lower reported prevalence rates of HAE are likely underdiagnosis and reporting of the disease. Turning to Africa, A/Prof. Peter showed that to date, across the whole of the continent outside of South Africa, there are 23 confirmed HAE cases, but in South Africa alone, where there is a registry, 110 cases are confirmed. The extent of competing priorities and limited resources in these countries was also outlined.
The various aspects of diagnosis, with or without the availability of laboratory / genetic testing, were also described by A/Prof—Peter, which you can read more about in his talk during the main track of the conference.
A/Prof also discussed some general and specific aspects of management in low-middle-income countries. Peter. These include the importance of diagnosis to reduce mortality and that most HAE management occurs outside specialist clinics, most commonly the emergency room. A/Prof. Peter stressed the importance of education as there can be fewer safety nets in case of life-threatening HAE attacks and that education should be targeted at emergency care professionals, paramedics, and primary care.
On-demand therapy generally relies on fresh or freeze-dried plasma. Access may be limited due to cost, even when targeted therapies are registered in a country. Most long-term prophylaxis remains limited to attenuated androgens and tranexamic acid despite considerable data on potential long-term side effects. There are now several registered prophylactic HAE treatments in Asia Pacific, but none in Africa.
A/Prof. Peter recommended that physicians and scientists in these countries work together with advocacy groups and try to publish local data to drive awareness and priority. The possibility of internet-based virtual clinics is also growing and should be explored.
A/Prof. Peter stressed the importance of strong patient advocacy, with data showing that no on-demand or prophylaxis treatment is available without a patient support group in a country. Projects in South Africa, such as angioedema telephone hotlines, aim to reach and support the diagnosis and management of HAE.
Concluding, A/Prof. Peter said that there are considerable challenges to HAE diagnosis and treatment in low-middle-income countries but that the following could improve the situation:
- Increase local data and advocacy
- Be creative in championing HAE
- Show scientists the opportunities for discovery
- Encourage the industry to invest
The three Co-Chairs then took to the stage for the next session, the goal of which was to illustrate the hurdles physicians face and to encourage discussion.
Prof. Staubach-Renz presented a case involving a newly diagnosed patient who was pregnant. She invited participants to consider the current treatment guidelines before considering how they would approach a management strategy for the patient. Participants voted for one of a selection of potential strategies, prompting comments and discussion from the audience.
She concluded by telling her peers that:
- Pregnancy can increase, decrease, or not affect HAE disease activity. However, the increase in hormonal levels and emotional stress can cause more attacks
- HAE treatment options are limited to plasma-derived C1-inhibitor in pregnancy and lactation
- Personalized treatment and delivery plans are highly recommended and should be developed in partnership with gynecology colleagues
- Weight gain during pregnancy can require an increase in the C1-inhibitor dose.
Dr. Danny Cohn presented the case of a 46-year-old patient with HAE. A widower with three children, she was self-isolating during the COVID pandemic. During a video conference consultation, Dr. Cohn questioned the patient about an action plan and the availability of acute treatment; he was told the patient had neither. In addition, when asked about laryngeal attacks, the patient confirmed that she was having one right now during the consultation. The patient could not leave home as she cared for children and lived approximately 45 minutes from a clinic.
Asking his audience, ‘What would you do?’, he gave them options such as to go personally to the patient, make them go to the emergency room, etc.
Ultimately, Dr. Cohn resolved the potentially life-threatening situation by couriering acute medicine directly to the patient in such a way that it could be posted through the door. Dr. Cohn was then able to instruct the patient on how to self-administer during the teleconsultation.
He encouraged those present to make sure patients are aware of the dangers of their condition and have an action plan and proper treatment. He said, “We must also make sure all clinicians understand better the disease and how to act.”
Finally, in a case with sadly a less favorable outcome, Prof. Farkas presented a fatal laryngeal attack. The patient was a young man with a positive family history of HAE. Despite suffering from 20-24 attacks, the patient had ignored follow-ups, and compliance with therapy was poor.
She asked the assembled physicians for their views about the cause of the patient’s death; was this lack of education or patient support, for example? The questions prompted much debate and discussion with the audience. All assembled agreed that any death from an attack is one too many. Prof. Farkas then provided three key recommendations:
- Education on the course of laryngeal attack. She made clear there is “no such thing as mild laryngeal edema”
- Education on treatment strategy and that all patients should have an action plan
- Education on drugs for acute treatment. Where possible, all patients should be taught to self-administer, and drugs for the treatment of two attacks should be available at all times
Find more feature articles from the 2023 HAEi Regional Conference EMEA:
