Who: Lara Bloom, International Director of The Ehlers-Danlos Society
What: Ehlers-Danlos Society Learning Conference - Patient Day
Where: Macquarie University, Sydney
When: 7 December 2018
These are my notes from Lara Bloom's talk. I have tried to be as true as possible to what was said at the conference - please excuse any errors.
How did we get here? (History)
- Since the Villefranche criteria in 1997, the EDS world experienced 20 years of ‘neglect’ until the new 2017 criteria were created.
- Ghent, Belgium 2012
- Glasgow, Scotland 2015
- New York City 2016 International Symposium:
Creation of The Ehlers-Danlos Society (formerly Ehlers-Danlos National Foundation)
Creation of The International Consortium on Ehlers-Danlos Syndromes and Related Conditions
Creation of Steering Committee divided into Working Group interest areas such as Pediatrics, Orthopaedics, Allergy/Immunology, Pain, Physiotherapy, etc.
- March 2017: 18 articles in the American Journal of Medical Genetics created by 96 medical professionals
Ehlers-Danlos Syndromes expanded from 6 to 13 distinct types
Hypermobile Spectrum Disorders (HSD) introduced (more prevalent than EDS)
Included latest research, management and care guidelines
- Ghent 2018 International Symposium
Why were the new criteria introduced?
To prevent misdiagnosis and under-diagnosis - to make clinical diagnosis consistent.
To gain credibility and respect
To prevent over-diagnosis (in the patient world of ‘Dr Google’)
To introduce Hypermobility Spectrum Disorders, which allows them to be managed and validated
To gain better data in a global registry to help prove prevalence and find the genetics for hEDS
To help people who are dying and suffering and need to be better cared for
With the new criteria, it is important to note that HSD is NOT a down-graded diagnosis and does not mean someone with HSD is less sick than someone with hEDS. Both hEDS and HSD are on a spectrum. Currently there are no comorbidities in the criteria for HSD but that will likely be revised once scientific evidence is proven.
Where are we going? What is The Ehlers-Danlos Society currently working on?
- EDS Comorbidity Coalition: small working group in charge of coming up with the most important research needs (eg, poor response to local anaesthetics, MCAD); working on health pathways for the various comorbidities
- Education, Advocacy and Partnerships
- Research to find the gene(s) responsible for hEDS: $1 million major ‘moonshot’ gift to take Hypermobile Ehlers-Danlos research to new heights
- Medical Professionals Directory: all EDSers should encourage their health care providers to register on this international directory www.ehlers-danlos.com/medical-professionals-directory
- Global Registry EDS & Related Disorders: we need EVERYONE to register, including children www.ehlers-danlos.com/eds-global-registry
Will help understand the true prevalence worldwide
Will help hEDS and HSD research – especially to identify the responsible gene(s)
- Nutrition & EDS: hundreds of thousands of dollars being put into EDS diet research
- Project ECHO: EDS has been accepted for Project ECHO (through the University of New Mexico), which will put EDS experts in one room on a regular basis, where they will do an online teaching about EDS for medical professionals around the world and then open up for questions. This will give medical professionals around the world access to teaching and advice from EDS experts.