Published: 17/10/2018 Tags: The Ehlers-Danlos Society News

International Symposium Gathers in Ghent to Accelerate Understanding of Rare Connective Tissue Disorder, the Ehlers-Danlos Syndromes

GHENT — October 17, 2018 — The Ehlers-Danlos Society hosted the 2018 International Symposium on the Ehlers-Danlos Syndromes in Ghent, Belgium, on 26-29 September, bringing together more than 250 of the world’s leading scientific and clinical experts in EDS from 23 countries. The four-day meeting was packed with talks from 17 senior invited speakers, 51 plenary talks, and over 100 posters from research groups from around the world, covering each of the 14 subtypes of EDS, plus the hypermobility disorders.

“The International Symposium was a wonderful mix of science and clinical practice,” stated Dr. Alan Hakim, Director of Education for The Ehlers-Danlos Society. “From genes to collagen structures and the ‘chaperone’ proteins that make collagen, to other structural proteins, to tissue strength and elasticity, we heard about the latest and fascinating research into the biology of EDS. And we saw examples of how this knowledge is translating into novel ways of treating EDS. All the speakers were truly inspirational.”

Professor Anne De Paepe delivered the welcoming address, reflecting on the first Ehlers-Danlos symposium in 2012. She recognized the numerous advances in scientific knowledge, clinical knowledge, and collaboration in such a short time, as well as the opportunities for groundbreaking progress on the road ahead.

Day 1: From collagen biosynthesis to possible subtypes
Day 1 discussions centered on collagen biosynthesis and EDS. Speakers explored new insights to explain why collagen and other proteins behave differently in EDS. There were a number of fascinating insights on the complexity of collagen connective tissue disorders that may lead to better understanding of why tissues become damaged and how this might be influenced by treatment. One study examined proteins that help collagen strands make the triple helix structure of a collagen fibril and how these might be influenced to improve misshapen fibrils by mimicking these proteins with medicines – so-called ‘Chaperones’.

Several presentations explored the development and study of ‘mouse models’; mice bred with known genetic changes that look like EDS. There were also presentations on work that has looked at the Zebrafish. These models allow scientists to study how genetically modified tissues behave when stretched or injured, and also the effects of treatments on these tissues.

As clinical descriptions identify subtle differences between patient groups and genetic markers are found to be linked to these change, the apparent overlap between some types of EDS may actually become newly-described, unique EDS subtypes.

In one study, researchers have identified a possible new subtype in a group of individuals who present clinically with an overlap of hypermobile EDS and classical EDS symptoms, but who exhibit a unique mutation. While more research and collaboration on this finding will determine if an actual, distinct new subtype has been discovered, it is clear to all that more subtypes are waiting to be discovered and described.

Day 2: Classical EDS and Classical-like EDS, Pain, Hypermobile EDS, and HSD
On the morning of day 2, sessions on classical EDS and classical-like EDS discussed the presence of arterial complications in these types. Later presentations addressed new insights on the mechanisms of chronic pain and pain sensitivity and explored how this knowledge might lead to new treatments for managing the often debilitating pain experienced by individuals living with EDS/HSD.

In the half-day session on hEDS and Hypermobility Spectrum Disorder, the symposium discussed themes which recently emerged from clinician and patient surveys examining the usage of the 2017 criteria.

Dr. Alan Hakim presented the results of an international survey of patients and health professionals, stating, “Our survey on the use and pros and cons of the Hypermobile EDS 2017 criteria has received very helpful feedback from clinicians and patients from all over the world. We were able to identify a number of common themes from the responses.”

There were also presentations from groups that have been assessing the criteria through formal studies. “There was an agreement in general from the speakers and audience participants as to the need to refine the hEDS criteria. Work is already underway, but for now, the 2017 criteria remains the standard for making a diagnosis,” stated Hakim. The Ehlers-Danlos Society will be hosting a meeting in New York City in March to work on the reclassification of the hEDS criteria thanks to generous support from donors.

Hakim also discussed the work being undertaken by the Hypermobile Genetic Research Network and the Moonshot project, looking at candidate genes in hEDS. Ultimately, Hakim is “hopeful that this incredibly important and exciting work will be transformative. The ability to incorporate genetic markers into the hEDS diagnostic criteria would be a game changer. Until then, we will continue to explore and refine clinical-based diagnostic methods as thoroughly and accurately as possible so that those living with hEDS can obtain a proper diagnosis and access appropriate care.”

Day 3: Vascular EDS and Rarer Types of EDS
Day 3 focused on vascular (vEDS) and rarer types of EDS. Presenters discussed several new treatments approaches that may strengthen vascular tissue and lead to treatments that reduce the risk of vascular complications in vEDS patients.

Researchers discussed a unique link between periodontal EDS (pEDS) and inflammation arising from the complement pathway. The complement system is a number of proteins found in the blood that generate inflammation and help immune cells to clear infections and abnormal cells from the body. Several abnormalities of the pathway are seen in systemic lupus erythematosis (SLE). This discovery adds a new area for exploration and discovery into underlying issues found in pEDS-and, in turn, how to identify effective treatments-and opens up collaboration opportunities with other research groups exploring complement pathways, as researchers seek to understand this unique rare type of EDS,” stated Hakim

Day 4: Current Diagnostic Approaches, Unmet Needs, and the Way Forward
The final day of the symposium offered a look ahead, as researchers discussed future needs and plans for continued collaboration. The Ehlers-Danlos Society updated the meeting on all its activity over the last two year—and its ongoing plans for increasing awareness, improving patient-centered care, and the opportunities in education and clinical research for patients and medical communities globally.

The Symposium participants explored ways in which healthcare professionals can be educated and supported in their quest to improve diagnosis and care for people with EDS and HSD. Speakers described several programmes of work, including a Swedish group’s development of tools to help doctors improve care, the UK General Practitioner Toolkit, and the Ehlers-Danlos Society’s plans to build a global pathway for both diagnosis and management, as well as details of Project ECHO.

Closing remarks by Professor Fransiska Malfait and Dr. Peter Byers emphasized the need for good clinical studies, maintaining strong clinical observation, and devoting greater resources to research on cardiovascular disease, pain management, and increased focus on the paediatric EDS population—“all of this achievable, over time, with the types of collaboration between clinicians and researchers seen at the symposium,” observed Hakim.

Physiotherapy Workshop
Day 4 continued with an optional physiotherapy workshop, which drew 120 healthcare, medical, and exercise professionals, and patients. Led by a team of internationally recognized clinicians and researchers in the field of physiotherapy for patients with joint hypermobility and tissue fragility, workshop attendees learned from hands-on exercise demonstrations, videos of patients, and in-depth discussion on a variety of topics from shoulder instability to mind-body work and the challenges of building an exercise plan for patients with dysautonomia.

“All speakers were excellent and very knowledgeable, and the workshop was presented in an approachable way for all attendees,” stated Jeannie Di Bon, a Pilates and rehabilitation teacher and Ghent Patient Day speaker. “Dr. Wandale and Dr. Rombault’s presentations included novel exercises that were a big interest to everyone. I also found the discussion on mind-body work during Leslie Nicholson’s presentation particularly stimulating. During the ‘Meet the Expert’ session at the end, presenters broke into groups and encouraged attendees to ask questions in a more personal environment. All of us, especially patients, loved this opportunity to chat in depth. I thoroughly enjoyed this afternoon.”

“It was wonderful to offer specialized training to physiotherapists this year,” stated Lara Bloom, International Executive Director of The Ehlers-Danlos Society. “We hope to do more targeted events like this in the future. Having this workshop immediately following our Symposium was particularly poetic as we moved full circle from molecular-level discussions and research planned in the future to practical, hands-on training of clinicians who can use the tools they have learned to help patients now. It was a great reminder of why we do what we do.”

Patient Day
Following the Symposium and Physiotherapy Workshop, over 80 individuals from 12 countries attended the widely successful Patient Day, a one-day educational and networking event for patients living with EDS and HSD. This invaluable event allowed patients to learn directly from some of the leading experts in Ehlers-Danlos research and patient care, as well as others within their patient community. “Presentations covered a variety of topics aimed at empowering those with EDS/HSD achieve better symptom management and improve their quality of life,” stated Lara Bloom.

“From the incredibly productive and exciting research Symposium to the life-changing patient day, The Ehlers-Danlos Society is extremely proud of our time here in Ghent,” stated Bloom.

“New and potentially transformative avenues of research and patient care were explored. Collaborations were established between scientists from around the world who now have the opportunity to share findings and gain invaluable new insights. Patients are leaving with a sense of optimism and hope that the knowledge they gained at this meeting can help manage their condition and improve their lives. We couldn’t have imagined a more worthwhile and successful event, and we are encouraged and excited about the road ahead,” concluded Bloom.

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