Spotlight on Ehlers-Danlos Syndromes (EDS)

Written by: Bonnie Feldman, DDS, MBA, Anna Simon, Amanda Alise Price PhD, Ellen M. Martin

Autoimmune disease is an “invisible epidemic”. Despite affecting roughly 16% of the US population, autoimmunity remains under-recognized, under-researched and under-served. To combat this lack of awareness, as well as to connect patients, families, and caregivers with useful resources, we at Your Autoimmunity Connection are publishing a series of “spotlights” on autoimmune diseases or other diseases that are closely linked to immune dysfunction.

This time, the complex and rare group of Ehlers Danlos Syndromes takes the stage.

What are the Ehlers-Danlos Syndromes?

The Ehlers-Danlos Syndromes (EDS) are a group of 13 (as of 2017¹) inherited conditions characterized by defects in connective tissue. These defects trigger symptoms across multiple systems: joint hypermobility, easily damaged skin and slow wound healing, periodontal and gastrointestinal problems, fatigue, anxiety, and many others. EDS has been diagnosed in 1 in 5,000 people worldwide, with the hypermobility type being the most common. However, because of the variability of symptoms and the infrequency of diagnosis, the actual prevalence is probably much greater than currently recognized.

The cause of EDS is a defect in the production, structure or processing of collagen, the main protein component of connective tissue. To specify, EDS has been associated with mutations on 19 identified genes, some cases inherited through dominant (e.g., hypermobility type) or recessive (classical type) alleles, but also through spontaneous mutations not shared with parents and probably gene defects not already recognized.

How are Ehlers-Danlos Syndromes diagnosed?  

Unfortunately, diagnosis is difficult and often delayed because healthcare providers typically are unaware of or know very little about the condition. Therefore EDS are typically diagnosed during adulthood, even though symptoms may manifest much earlier. In particular, common symptoms include hyperflexible, loose and painful joints; soft (“velvety”), easily bruised or injured skin and slow wound healing, as well as less-specific symptoms like headaches, fatigue, skeletal, periodontal and GI problems.

Current criteria for diagnosis are hypermobile joints, systemic manifestations of a connective tissue disorder, and musculoskeletal involvement: chronic pain, recurrent joint injuries, early degeneration of joints, scoliosis, and flat feet. However, these criteria will be reassessed in 2019. Although a primary care doctor can make the diagnosis, since they are genetic conditions, a geneticist is best equipped to diagnose EDS.  In addition, rheumatologists are also often involved in the diagnosis and management of EDS, considering the significant musculoskeletal involvement and co-occurrence of arthritis and other rheumatic conditions.

We strongly believe that there is strength in numbers, and in raising awareness as an initial step towards action. Read on to find available statistics, research initiatives, supportive patient communities, and more resources. And check out our Facebook page and forum for more EDS-related updates!

EDS Types

There are 13 major types per the reclassification in 2017:

• Classical EDS
• Hypermobile EDS
• Vascular EDS
• Kyphoscoliosis EDS
• Arthrochalasia EDS
• Dermatosparaxis EDS
• Brittle Cornea Syndrome
• Classical-like EDS
• Spondylodysplastic EDS
• Musculocontractural EDS
• Myopathic EDS
• Periodontal EDS
• Cardiac-valvular EDS

Learn more about what characterizes the individual types here.

What do the numbers show?

Current available statistics estimate that…

• An estimated 1 in 5,000 people have EDS worldwide. This number is probably an underestimate, given the complex and heterogeneous symptoms and genetics.
• It is inherited either through an autosomal dominant or autosomal recessive manner. Some cases are caused by spontaneous mutations.
• EDS disproportionately affects women.
• Hypermobile EDS (hEDS) is associated with rheumatic diseases, many autoimmune in nature.²

Research on the EDS cluster is difficult, given the rarity of these conditions and the multiple genes already identified. More genes await discovery and EDS is likely one of many diseases where multiple genes are involved in each individual, making research even more challenging. While the Ehlers-Danlos Society, along with other leading organizations, works towards reevaluating the current state of mixed connective tissue disease, our team at Your Autoimmunity Connection is connecting patients with one another and with currently available resources.

The good news for those of you reading this – whether you are affected by Ehlers-Danlos Syndrome, have a loved one who is affected, or are simply generally interested – is that the recent rise in understanding of alternative approaches suggests that lifestyle changes, including diet, supplements, and exercise, may help moderate symptoms, reduce flares, and complement or replace the need for pharmaceutical treatments.

Connecting you with available resources

Brush up on the basics of EDS

If you’ve read this far, you likely already have some background knowledge about EDS. Despite that, it can’t hurt to review the basics, including hypermobility and connective tissue disorders. Since the EDS are rare diseases and not many people know about them, information is relatively scarce. The following pages each provide a comprehensive overview of EDS:

• The Ehlers-Danlos Society: Ehlers-Danlos
  • Peruse this comprehensive site dedicated to the disease.
• Ehlers-Danlos Support UK: Ehlers-Danlos UK
• Hypermobility Syndromes Association: Info and Advice
• Ehlers Danlos for Dummies: What is Ehlers-Danlos Syndrome?
  • Learn about the history and common symptoms of the disease.
• EDS Today: EDS Today
  • Read about information, awareness, education, guidance and support for EDS.
• Mayo Clinic: Ehlers-Danlos Syndrome
  • Delve beyond a general overview to learn about potential complications, treatments, lifestyle changes, and more.
• National Organization for Rare Disorders: Ehlers-Danlos Syndromes
  • Learn more about the subdivisions, causes, and other related disorders.

For anyone affected – find your patient community

• • Ehlers-Danlos Society: Affiliates, Support Groups, and Charities
    • Find support groups specific to your region.
  • Inspire: EDS & HSD Support Community
    • Connect with people affected by Ehlers-Danlos and related hypermobility spectrum disorders. Get support for pain, diet, GI issues, and more.
  • Facebook Support Groups
    • Connect online with other patients to receive and offer helpful knowledge and support. A quick search will yield several options, but the patients in these forums seem to be particularly active and engaged:
      • Ehlers-Danlos Support Group
      • Ehlers Danlos Syndrome Support Group

What’s happening in research?

We’ve picked out a few of our favorite research resources – get caught up on recent findings, informed of future directions, and tap into your potential for involvement as a patient:

• US National Library of Medicine: Ehlers Danlos Syndrome
  • Read about current clinical trials.
• The Ehlers-Danlos Society: Current Research Projects
  • Explore the research currently being done by the Ehlers-Danlos Society.
• PubMed: Ehlers Danlos Publications
  • Check out another source for EDS research.

What is one thing everyone should know about Ehlers-Danlos Syndromes?

When looking at the big picture, we must remember that the Ehlers-Danlos Syndromes fall within the larger category of “autoimmune-like diseases,” of which there are more 100 individual diagnoses. The heterogeneity and multiple gene origins of the EDS cluster reflect in miniature the complexity and challenges of other rare and autoimmune disorders.  Possibly, having one or more of the EDS predisposes individuals to autoimmune conditions.

Subsequently, the most common type of EDS, the hypermobility type (hEDS), has been associated with increased risk of autoimmune diseases. Furthermore, many of the common EDS comorbidities have been theorized to involve autoimmune mechanisms, and EDS are even regularly treated with pharmacological therapies for autoimmunity. In our research, we have found that 50 million Americans suffer from one or more autoimmune diseases. What’s more, a research study estimated that approximately 25% of patients with autoimmune diseases have a tendency to develop additional autoimmune diseases.³

In conclusion, we hope our spotlight on the Ehlers-Danlos Syndromes this month connects you with beneficial resources and information, and we believe it is essential to take a holistic approach to the autoimmune disease epidemic. By looking at all autoimmune and similar diseases together, we can move away from the fragmented view that hides the magnitude of the problem and towards concerted action in reshaping research, diagnosis, and treatment. Our model is the revolution in cancer research and treatment over the past 50 years made possible by viewing cancer as a group of diseases with a common foundation, thus garnering far more resources than had been devoted to individual types of cancer.

Get acquainted with Your Autoimmunity Connection

• Check out our blog at www.drbonnie360.com for all things autoimmune – from updates in research to possible lifestyle modifications, patient stories, and more.
• Find us on Facebook here, or join our Facebook Forum to connect with patients across all autoimmune diseases.
• Read our patient guide on How to Achieve Your Optimal Wellbeing
• Read our Guide to Movement Therapy
• Check out our other spotlights here

[1] Tinkle, B., Castori, M., Berglund, B., Cohen, H., Grahame, R., Kazkaz, H. and Levy, H. (2017). Hypermobile Ehlers-Danlos syndrome (a.k.a. Ehlers-Danlos syndrome Type III and Ehlers-Danlos syndrome hypermobility type): Clinical description and natural history. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 175(1), pp.48-69.

[2] Rodgers, K. R. et al. Ehlers-Danlos syndrome hypermobility type is associated with rheumatic diseases. Sci. Rep. 7, 39636; doi: 10.1038/srep39636 (2017).

[3] Cojocaru, M, Inimioara Mihaela Cojocaru, and Isabela Silosi. “Multiple Autoimmune Syndrome.” Mædica 5.2 (2010): 132–134. Print.