New study helps explain what is going on in hyper mobile EDS

Piezogenic papules of EDS - Image credit "Piezogenic papules" by Audrey Effenberger is licensed under CC BY-SA 4.0.1Thumb hypermobility - Image credit - "Hypermobility-02" by Rollcloud is marked with CC0 1.0.2EDS stretchy skin - Image credit - "Hyperelastic skin in a case of Ehlers-Danlos syndrome (cropped)" by Whitaker JK, Alexander P, Chau DY, Tint NL is licensed under CC BY 2.5.3

There was a revealing new study published in September this year in the journal ImmunoHorizons. Titled “Proteomic discoveries in hypermobile Ehlers–Danlos syndrome reveal insights into disease pathophysiology” by Molly Griggs et al, it is building on the evidence base for tools to diagnose and treat this complex condition. 

This study looked at hypermobile Ehlers–Danlos Syndrome (hEDS), a condition that affects the body’s connective tissues, making joints very flexible and sometimes causing pain or other problems. Scientists still don’t fully understand what causes hEDS, and there’s no lab test to diagnose it yet.

To learn more, researchers compared blood samples from 29 women with hEDS and 29 women without it. They used advanced tools to look for differences in the proteins found in the blood. They discovered 35 proteins that were different in people with hEDS. Many of these proteins are connected to the immune system, inflammation, and blood clotting, especially the complement system, which helps the body fight infections.

Further tests confirmed that several key immune-related proteins were lower in people with hEDS. The researchers also found signs of immune system imbalance and unusual levels of cytokines, which are molecules that help control inflammation.

These results suggest that hEDS involve immune system problems, not just issues with connective tissue. Patients living with hEDS and their doctors are familiar with how issues with inflammation, and fighting infections can be a big and debilitating piece of the health picture with hEDS. It is validating to have the mechanisms behind the symptoms come into the light. This study may also help clinicians use more targeted interventions when trying to diagnose and treat these issues in the future. 

If you or a family member have hEDS or think that you might, connect with Dr. Boulter to discuss how we may be able to support you and your individual needs.

  1. Image credit: “Piezogenic papules” by Audrey Effenberger is licensed under CC BY-SA 4.0. ↩︎
  2. Image credit: “Hypermobility-02” by Rollcloud is marked with CC0 1.0. ↩︎
  3. Image credit: “Hyperelastic skin in a case of Ehlers-Danlos syndrome (cropped)” by Whitaker JK, Alexander P, Chau DY, Tint NL is licensed under CC BY 2.5. ↩︎
Kathryn Boulter