Welcome!

To those of you who are new to EDS - this is the space where you will get to make all sorts of interesting connections to things your body does that you put down to 'just my body being weird' or 'being a slow healer' or even 'doesn't everyone do that?'

What is EDS?

Ehlers-Danlos Syndrome (EDS) refers to a group of inherited connective tissue disorders that affect collagen.

Collagen is one of the body's primary structural proteins. It acts like the "glue" that provides strength and stability to:

• Ligaments
• Tendons
• Skin
• Blood vessels
• Internal organs
• Connective tissues throughout the body

When collagen is altered, these tissues may become weaker, more elastic, or less able to tolerate physical stress.

Several forms of EDS have been identified. For many subtypes, the responsible genetic mutation has been discovered. For example, Classical EDS (cEDS) is commonly associated with mutations in the COL5A1 and COL5A2 genes, which affect collagen production and structure.

There's a growing body of evidence for EDS, but it's still a relatively small pool. When I was studying, it was a diagnosis that was a dot point on a 'conditions you won't ever encounter but are good to know about' slide. I learnt the name and that was it - it's come a very long way since then.

Many people, clinicians included, think EDS simply means being "double jointed" or unusually flexible. In reality, EDS is a complex connective tissue disorder that can affect nearly every system of the body.

For some people, symptoms are relatively mild. For others, EDS can affect mobility, pain levels, fatigue, digestion, bladder function, cardiovascular health, mental wellbeing, and the ability to participate in work, study, and daily life.

Understanding EDS is important because many people spend years seeking answers before receiving an accurate diagnosis.

How do we diagnose it?

Unfortunately, the most definitive answer we have is genetic testing, and not all of these have been established for all types of EDS.

That means, even if you get genetic testing 'for EDS' and it comes back as a no, you can still have EDS, just a different type.

The genetic testing we have available at time of writing this is:

Not all these genetic tests are available in Australia. To my knowledge, none of them are covered by Medicare.

The way most people get an inkling of the EDS diagnosis is through a physical exam, mostly typically done by a physiotherapist.

A physio will examine:

• How flexible you are
• If you have had pain for more than 3 months and where
• Your physical health history
• Skin quality
• Varicose veins
• Prolapses

The exact diagnostic criteria currently used need some revamping, which is currently underway, which is promising for helping people reach their diagnosis earlier.

Common Symptoms

EDS has a lot of variations, which makes compiling a list of symptoms very difficult. Not having some of these symptoms does not mean you don't have EDS, similarly, the list of symptoms caused by EDS can be so long that it does not mean you have it because you experience multiple symptoms.

Realistically, diagnosis of EDS needs to be done by a medical professional with experience in EDS.

That said, some common symptoms people report are:

• Joint hypermobility
• Chronic Pain
• Joint Instability e.g. dislocations
• Frequent injury
• Chronic fatigue
• POTS (Postural Orthostatic Tachycardia Syndrome)
• Dizziness
• Exercise intolerance
• Fainting episodes
• Abdominal pain
• Bloating
• Reflux
• Constipation
• Unpredictable bowel habits
• Needing to pee suddenly
• Bladder/bowel dysfunction
• Prolapses
• Migraines
• Headaches
• Nerve compression injuries
• Anxiety
• Low mood
• Social withdrawal

EDS has been linked to Autism Spectrum Disorder (ASD), and so there are a number of potential symptoms that align with a neurodivergent brain structure as well.

What to do about it

Currently, there is no fix for EDS - no magic tablet will correct the genetic changes.

So we end up with lifelong, permanent impairments that need to be managed.

As with all complex conditions, having a solid medical team approaching it from a holistic perspective is important.

Physiotherapy can help by:

• Improving joint stability
• Building strength
• Improving muscle endurance
• Activity pacing
• Proprioception training
• Pain management strategies
• Using exercise to build strength, conditioning, balance and function
• Fatigue Management
• Workplace modifications and ergonomics
• Assistive equipment such as gait aids, braces, and daily living equipment

Having a medical team to assist with pain, POTS, sleep, gastrointestinal issues, pelvic health issues, and the psychological effects of EDS is also very important.

Long term, EDS is a condition that changes throughout life. Many older people living with EDS find that they are not 'bendy' at all as the body slowly becomes more protective from recurrent injury.

Through appropriate support, people living with EDS can experience positive outcomes in pain management, physical functioning, confidence and quality of life.

References

Malfait, F., Francomano, C., Byers, P., Belmont, J., Berglund, B., Black, J., Bloom, L., Bowen, J. M., Brady, A. F., Burrows, N. P., Castori, M., Cohen, H., Colombi, M., Demirdas, S., De Backer, J., De Paepe, A., Fournel-Gigleux, S., Frank, M., Ghali, N., ... Tinkle, B. (2017). The 2017 international classification of the Ehlers-Danlos syndromes. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 175(1), 8-26. https://doi.org/10.1002/ajmg.c.31552

Ritelli, M., Chiarelli, N., Cinquina, V., Vezzoli, M., Venturini, M., & Colombi, M. (2024). Looking back and beyond the 2017 diagnostic criteria for hypermobile Ehlers-Danlos syndrome: A retrospective cross-sectional study from an Italian reference center. American Journal of Medical Genetics Part A, 194(2), 174-194. https://doi.org/10.1002/ajmg.a.63444

Wilson, G. N., & Tonk, V. S. (2024). Clinical-genomic analysis of 1261 patients with Ehlers-Danlos syndrome outlines an articulo-autonomic gene network (Entome). Current Issues in Molecular Biology, 46(3), 2620-2643. https://doi.org/10.3390/cimb46030169

Yang, F., Yang, R., Li, Q., Zhang, J., Meng, Y., Liu, X., & Yao, Y. (2022). Whole-exome sequencing facilitates the differential diagnosis of Ehlers-Danlos syndrome (EDS). Molecular Genetics & Genomic Medicine, 10(3), e1885. https://doi.org/10.1002/mgg3.1885

Castori, M., Tinkle, B., Levy, H., Grahame, R., Malfait, F., & Hakim, A. (2017). A framework for the classification of joint hypermobility and related conditions. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 175(1), 148-157. https://doi.org/10.1002/ajmg.c.31539

Tinkle, B., Castori, M., Berglund, B., Cohen, H., Grahame, R., Kazkaz, H., & Levy, H. (2017). Hypermobile Ehlers-Danlos syndrome (a.k.a. Ehlers-Danlos syndrome hypermobility type and Ehlers-Danlos syndrome type III): Clinical description and natural history. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 175(1), 48-69. https://doi.org/10.1002/ajmg.c.31538