The Road to 2026: New Criteria for the Diagnosis of Ehlers Danlos Syndrome

What is the road to 2026 for Ehlers-Danlos syndrome?

The Road to 2026 is an initiative led by the Ehlers-Danlos Society to update the classification, diagnosis, and treatment pathways for Ehlers-Danlos syndromes (EDS) and hypermobility spectrum disorders (HSD). Building on the 2017 International Classification of EDS and HSD, this project is set to conclude in 2026, with a focus on enhancing global understanding, reducing diagnostic delays, and improving patient care.

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Purpose and Goals of The Road to 2026 Initiative

The key goals of the Road to 2026 initiative include:

• Updating Classification Criteria: Revising the 2017 framework to incorporate the latest research findings and clinical experiences.
• Establishing Diagnostic Pathways: Developing clear diagnostic guides for healthcare providers, especially those less familiar with EDS and HSD.
• Creating Assessment and Treatment Guidelines: Providing practical recommendations on symptom management and care to improve the quality of life for individuals with EDS and HSD.

These goals aim to make diagnosis and care more accessible, ensure that new insights into EDS and HSD are reflected in clinical practice, and empower patients and their families with knowledge and resources.

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How will the Diagnostic Criteria for hEDS and HSD Change in 2026?

The diagnostic criteria for EDS and HSD will almost certainly change in 2026. Nobody can predict with 100% certainty what will change, but I anticipate there will be at least four changes: One, genes identified between 2017 and 2026 will be factored into the criteria which may lead to new types of EDS. Two, the Beighton score criteria will be reviewed and possibly revised. Three, the diagnosis of EDS vs HSD will be clarified. Four, Hypermobile EDS will likely be split into additional subtypes based on clusters of symptoms and genetic markers. I dive into each of these below:

1. New Genetic Markers for EDS:‍

Ongoing studies, including research into the Kallikrein gene family and others, may identify genetic markers that could serve as diagnostic criteria for hEDS. This genetic basis would bridge a major gap, allowing for more definitive diagnoses and validating hEDS as a genetically distinct subtype rather than solely a clinical diagnosis. Many experts believe multiple genes may contribute to hEDS, so future findings may not offer a single definitive gene for diagnosis.

2. Review of the Beighton Score:‍

Criticisms of the Beighton Score, particularly its limited scope in capturing generalized joint hypermobility (GJH) and its variable sensitivity, may lead to revised diagnostic tools. New assessments could evaluate hypermobility across a broader range of joints, consider hypermobility-related functional impairment, and adjust criteria based on age and sex to avoid false positives or negatives.

3. Clarification of the hEDS and HSD Split:‍

The distinction between hEDS and HSD has been widely discussed by patients and clinicians. Given the new genetic discoveries and ongoing work in phenotyping EDS, criteria revisions may further differentiate these conditions or provide more clarity on the diagnostic distinctions.‍

4. New Subtypes of Hypermobile Ehlers-Danlos Syndrome:‍

The inclusion of newly identified genes and symptom clusters may lead to identifying new EDS subtypes. Most likely, these would be delineated from hypermobile EDS, as hEDS encompasses various multisystemic presentations. Formal integration of multisystemic symptoms into diagnostic criteria could further support early diagnosis and multidisciplinary management.

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The Road to 2026: Key Components of the Program

1. Delphi Study for Expert Consensus

The committee will use a Delphi study—a research method involving multiple rounds of surveys to reach expert consensus on key topics. The process involves:

• Round 1: Experts complete a questionnaire on important issues for EDS and HSD, helping identify areas of agreement and topics needing more discussion.
• Round 2: Experts review responses from Round 1, refining their views on unresolved issues.
• Additional Rounds: If needed, further rounds will be conducted until consensus is achieved.

2. Literature Review and Research Integration

The committee will conduct an in-depth review of all relevant literature and research since the 2017 classification update. This includes insights from:

• HEDGE (Hypermobile Ehlers-Danlos Genetic Evaluation) Study: A significant genetic study focused on hypermobile EDS.
• hEDS/HSD Criteria Review Study: Research re-evaluating diagnostic criteria for EDS and HSD.
• Other recent studies on various types of EDS and HSD.

The team will examine existing data, upcoming research findings, and any recent developments in the field, setting the groundwork for a comprehensive update.

3. Key Topics for Discussion and Exploration

The committee will identify critical topics that may impact future updates to the classification criteria. This includes:

• Identifying Areas Needing Updates: Recognizing gaps in current criteria and deciding whether revisions are needed.
• Collaborating for Consensus: Engaging with clinicians, academics, and the wider community to ensure all relevant issues are explored and consensus is reached.
• Identifying Additional Research Needs: Highlighting areas where further research is essential to resolve outstanding questions.

4. Proposal of Changes and Stakeholder Feedback

Based on findings from research and expert feedback, the committee will propose potential changes to the classification criteria. They will:

• Gather Community Input: Actively seek opinions from the EDS and HSD communities to ensure changes align with patient needs.
• Testing Recommendations in Clinical Practice: If necessary, recommendations will be tested to confirm their effectiveness before implementation.

5. Scientific Peer Review

The final recommendations from the committee will undergo rigorous scientific peer review, ensuring they meet high standards of accuracy and relevance.

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Timeline and Key Milestones

The Road to 2026 initiative follows a structured timeline to ensure thorough research, discussion, and collaboration:

1. Spring 2024: Initial meeting in New York to start the Delphi study, involving expert consultation.
2. Summer 2024: Meeting in Philadelphia to advance diagnostic pathways and refine the Delphi study's first survey draft.
3. 2024-2025: Regular committee meetings to review and refine research findings, assess diagnostic pathways, and propose updates.
4. 2025 International Scientific Symposium: Committee members will gather in Toronto to present interim findings and discuss with the broader scientific community.
5. Late 2026: Final publication of a peer-reviewed, open-access special edition journal. The Ehlers-Danlos Society will also release accessible, multilingual resources based on the findings for both patients and clinicians.

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Publication and Dissemination Plans

The Ehlers-Danlos Society will ensure the results of the Road to 2026 are widely accessible:

• Open Access: The final publication will be made freely available so all healthcare professionals and community members can access it.
• Educational Materials: The Society will produce educational resources, available in multiple languages, to support patients and clinicians worldwide in applying the findings to clinical practice.
• Interactive Digital Platform: The Society aims to make the diagnostic pathways more accessible by developing an interactive digital platform, providing tools for healthcare providers unfamiliar with EDS and HSD.

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The Road to 2026 Committee Leadership and Members

The Road to 2026 committee comprises experts from the International Consortium on EDS and HSD, representing a range of clinical and research expertise. They work alongside patient representatives to incorporate lived experiences into the initiative.

The Road to 2026 Committee members include:

• Jessica Bowen
• Dr. Peter Byers
• Professor Marina Colombi
• Dr. Serwet Dermidas
• Dr. Clair Francomano
• Assoc. Professor Dr. Alan Hakim
• Dr. Glenda Sobey
• Dr. Hanandi Kazkaz
• Professor Fransiska Malfait
• Dr. Roberto Mendoza
• Professor Marianne Rohrbach
• Dr. Sherene Shalhub
• Professor Lara Bloom, CNE
• Scarlett Eagle
• Rebecca Gluck, PA-C

This diverse committee works in collaboration with other healthcare professionals, researchers, and community representatives, ensuring a holistic and inclusive approach.

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Community Representation: "Nothing About Us, Without Us"

Patient voices are central to the Road to 2026. Representatives from The Ehlers-Danlos Society are included on the committee to advocate for the community, gathering input from patients and organizations to ensure that research and recommendations reflect real-world experiences and challenges.

Community Engagement and Feedback

The Ehlers-Danlos Society is committed to including the community throughout this journey. To ensure everyone’s voice is heard, a feedback form has been launched, available in nine languages. This form collects questions, concerns, and hopes from individuals with EDS and HSD and their families, which are shared with the Road to 2026 committee.

How to Participate

Your input is essential in shaping the Road to 2026. Click here to take part in the feedback form.

Conclusion

The Road to 2026 is an ambitious project by the Ehlers-Danlos Society, uniting experts, researchers, and the community to advance the understanding and care of EDS and HSD. By updating classification criteria, refining diagnostic pathways, and improving treatment guidelines, the initiative aims to empower patients and ensure that healthcare providers are better equipped to serve this community. With a commitment to inclusivity and accessibility, the Road to 2026 will lay the foundation for a new era in EDS and HSD care, benefiting patients and families around the globe.

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