NH Rare Disorders Collaborative

MEETING ALERT! NH RDAC, June 12th at 10 am.
Link to the zoom meeting provided on the website.

Rare Disease Advisory Council The Rare Disease Advisory Council was established under New Hampshire Law Section 126-A:79 to promote public awareness of rare diseases within the state. The Council carries out this purpose by providing information, offering guidance, and making recommendations to the New Hampshire Department of He...

New discovery!
https://www.facebook.com/share/1Cn1NLpygP/

For years, hypermobile Ehlers-Danlos syndrome, or hEDS, has been understood primarily as a connective tissue disorder — a condition of loose joints, fragile skin, and collagen that does not function properly.

But two recent studies, one from Boston University and one from the Medical University of South Carolina (MUSC), are pointing toward a major shift in understanding: hEDS may not begin with collagen at all. It may begin with the immune system.

The Boston University study, conducted by Dr. Michael Holick (featured in COMPLICATED) analyzed genetic data from hEDS patients and found that the most common variants were not in collagen genes, but in immune system genes, particularly HLA genes, which help the body distinguish self from foreign invaders. These variants appeared in 74% of hEDS patients studied, more than double the rate found in unaffected family members.

Meanwhile, a separate team at MUSC (also featured prominently in COMPLICATED) took a different approach, studying proteins in the blood rather than genes. Their findings pointed in the same direction: 80% of the proteins that differed between hEDS patients and healthy controls were tied to immune, inflammatory, or coagulation pathways. Nearly half involved the complement system, a rapid-response arm of the immune system. Notably, collagen and other structural proteins were not among the major differences.

Together, these studies suggest a powerful new possibility: that collagen problems in hEDS may be downstream effects of immune dysfunction, not the original cause. In other words, the immune system may misfire first, driving inflammation that eventually affects connective tissue.

For patients, the significance is hard to overstate. These findings offer a possible biological explanation for the immune-like symptoms so many people with hEDS report — mast cell activation, inflammatory flares, sensitivities, and crashes after infection. They also suggest that future treatments may need to look beyond joints, braces, and pain management, and toward the immune pathways driving the illness.

The studies are still early and need to be confirmed in larger groups. But the convergence is striking: one team looked at genes, the other at proteins, and both found evidence that the immune system may be central to hEDS.

That is precisely the terrain COMPLICATED explores — the space between what patients have long known in their bodies and what medicine is only beginning to understand.

I am sharing a very important webinar that I received from ElevateRare on May 30, 2026. The webinar will take place on June 4 at 12 Noon EST.

Hi Jon,

I hope you are doing well. I'm trying to help promote the webinar we are having next week. Would you mind sharing about our webinar with your social media connections? It is on medical PTSD experienced by patients (and family) with connective tissue disorders. It is happening June 4 at noon ET.



I have attached a LinkedIN post and here are the links to the videos that we have created for the event.



[https://youtube.com/shorts/d46V3ISaadE](https://youtube.com/shorts/d46V3ISaadE)

[https://youtube.com/shorts/Iv2rDCgNZ6Y](https://youtube.com/shorts/Iv2rDCgNZ6Y)



Kindly,

Kathleen



Kathleen D. Hoffman, PhD MSPH

[www.linkedin.com/in/kathleenhoffmanphd](http://www.linkedin.com/in/kathleenhoffmanphd)

[https://youtube.com/shorts/d46V3ISaadE](https://youtube.com/shorts/d46V3ISaadE)

[https://youtube.com/shorts/Iv2rDCgNZ6Y](https://youtube.com/shorts/Iv2rDCgNZ6Y)