May '24 - Ehlers-Danlos Syndrome Awareness

[Arinna Katal]

For the month of May, the Servant of All Team is shining a light on Ehlers-Danlos Syndrome. Please join us this month to learn more about this group of disorders and discuss how to support those in our communities with EDS!

What is Ehlers Danlos Syndrome?

Ehlers Danlos Syndrome (EDS) is the generalized name of a collection of 13 genetic connective tissue disorders named after the Danish dermatologist, Edvard Ehlers, and the French physician and dermatologist, Henri Alexandre-Danlos.

Ehlers and Danlos first observed differences in disorders featuring lax skin in 1908 and 1904, respectively. Ehlers-Danlos Syndrome was formally named in 1946, and the categorization of various EDS subtypes has continued as the syndromes become better understood. The most recent classification system was established in 2017, recognizing 13 different subtypes of EDS. As may be expected from a group of syndromes so complex as to have 13 distinct subtypes, clinical manifestations of EDS can vary widely, from mildly loose joints to life-threatening cardiovascular complications, and the pain associated with EDS can range from mild to debilitating.

Basic symptoms:

• Overly flexible joints – Because the connective tissue that holds joints together is looser, joints can move far past the normal range of motion. Joint pain and dislocations are common.
• Stretchy skin – Weakened connective tissue allows skin to stretch much more than usual. A pinch of skin may be pulled up away from one's flesh, but it will snap right back into place when you let go. Skin might also feel exceptionally soft and velvety.
• Fragile skin – Damaged skin often doesn't heal well. For example, the stitches used to close a wound often will tear out and leave a gaping scar. These scars may look thin and crinkly. Bruising may also occur much easily.

If you're wondering what is meant by "stretchy skin" and "overly flexible joints," there is a helpful image below the spoiler tag:

Spoiler: hyperextensibility in (a) skin and (b) joints

Sources: Wikipedia, https://en.wikipedia.org/wiki/Ehlers–Danlos_syndrome; MayoClinic.org, https://www.mayoclinic.org/diseases-conditions/ehlers-danlos-syndrome/symptoms-causes/syc-20362125; Gensemer et al., Developmental Dynamics 250: 318-344 (2021), https://anatomypubs.onlinelibrary.wiley.com/doi/epdf/10.1002/dvdy.220; image from https://plasticsurgerykey.com/abnormalities-in-skin-thickness-and-consistency/

What's the deal with the zebra?

Ehlers Danlos Syndrome is classified as a "rare disease" as it affects 1 in 5,000 people. The following is commonly told to medical students and/or heard amongst the rare disease community at large:

“When you hear hoofbeats behind you, don’t expect to see a zebra.” (Medical students are taught to look for the more common and usual, not the surprising, diagnosis.)

“But you look normal”

“You’re too young to have so many problems”

“You’re too old”

“You can’t have that, it’s too rare”

“No one knows what that is”

Not only is this generally frustrating, but the same rare disease may present itself differently from person-to-person. Zebra stripes also vary from zebra-to-zebra. Because of this, multiple EDS-focused organizations (namely the Ehlers-Danlos Society and Ehlers-Danlos Support UK) have adopted the zebra as their logo and use it widely amongst their event and marketing materials.

Source: EhlersDanlos.com, https://www.ehlers-danlos.com/why-the-zebra/; https://www.ehlers-danlos.com/is-eds-rare-or-common/

(Programming note: while I'm the one posting this, much of the groundwork for our EDS focus month was laid by the awesome @Polegnyn Nemeara - many thanks to her for her hard work!)

 

[Adina al'Mari]

We're finding out my family has a hisory of EDS. My sister is having a particularly hard time, and has become an advocate for herself and her kids. Here is some interesting info she shared that has some useful facts about EDS.

 

[Arella Mathara]

Jessica Kellgren-Fozard is a LGBTQ+ and disability activist with Ehlers-Danlos Syndrome. She makes a lot of informative videos, mostly on LGBTQ+ topics and history as well as fashion history, but she does talk a lot about her various diagnosis as well. She's definitely worth a follow!

@jessicaoutofthecloset

https://youtube.com/@jessicaoutofthecloset?si=8xID5OuK-kWkr7Vx

Links to all her socials can be found on her YouTube page

 

[Leira Galene]

I have this! I have hEDS, the most common/least severe form of EDS. I've been very hypermobile since I was a child, and tore my first ligament at 12, but it didn't get connected into a systemic syndrome until a couple years ago. It sucks but in the long run, I have it way better than many other people. It does definitely prevent me from doing a lot of things, though, like walking more than a few km maximum before my ankles stop functioning. Strength training made a pretty big difference for me in pain levels! So I wish I had known about that a decade ago. Incidentally, one of my coworkers has Marfan syndrome.

 

[Adolla Ceryia]

I have HSD which is a diagnosis just short of the secondary clinical criteria for hEDS but meet the primary criteria of hypermobility and widespread chronic pain. I've struggled with joint pain my whole life and was prone to injury from a young age. I started struggling with chronic pain and fatigue at 17 after I had an unidentified virus that triggered a lot of autoimmune issues.

There's also a laundry list of comorbidities for many of us, including severe allergies, functional eye disorders, adhd, and digestive issues. Sometimes I feel like a Pokémon trainer trying to collect all the specialist.

 

[Arinna Katal]

Thanks, y'all, for your insights, which 1) are great in and of themselves and 2) happen to segue nicely into this week's post!

Ehlers-Danlos syndrome is a group of genetic disorders of the connective tissue with 13 known subtypes. The EDS subtypes vary greatly in prevalence; hypermobile EDS (hEDS) is the most common of all connective tissue disorders, whereas only about 11 cases of dermatosparaxis EDS (dEDS) have been reported. Most forms of EDS are the result of mutations that affect the structure or processing of collagen, a connective tissue protein that is the most common protein in the human body. The lack of properly structured collagen results in the joint hypermobility, skin hyperelasticity, and skin fragility that represent the characteristic symptoms of EDS. Because of the variety of mutations that result in EDS, however, patients with EDS may exhibit a wide range of additional symptoms, several examples of which include pregnancy complications, scoliosis, hearing loss, chronic headache, and inflammatory bowel syndromes.

Here is a brief rundown of some of the more common subtypes of EDS:

• hypermobile EDS (hEDS): hEDS is mainly characterized by joint hypermobility that may lead to frequent dislocations. Additionally, hEDS patients have skin that is velvety and bruises easily, but the skin is typically less affected in hEDS than in other forms of EDS. Interestingly, although hEDS is the most common form of EDS, it is the only one of the 13 subtypes for which the particular mutation leading to EDS development has not been identified.
• classical EDS (cEDS): cEDS results from particular mutations in collagens I and V and is characterized by extremely elastic, fragile skin and joint hypermobility.
• vascular EDS (vEDS): vEDS patients have the extremely fragile skin seen in other EDS subtypes but also have blood vessels and organs that are fragile and prone to rupture. vEDS is typically caused by mutations in collagen III.

Sources: Wikipedia, https://en.wikipedia.org/wiki/Ehlers–Danlos_syndrome; MayoClinic.org, https://www.mayoclinic.org/diseases-conditions/ehlers-danlos-syndrome/symptoms-causes/syc-20362125; Gensemer et al., Developmental Dynamics 250: 318-344 (2021), https://anatomypubs.onlinelibrary.wiley.com/doi/epdf/10.1002/dvdy.220 [if you would like a highly technical rundown of the various mutations that have been found to lead to various EDS subtypes, the Gensemer article has you covered!]

For additional context, the image below shows differences in collagen fibril structure in patients with various types of EDS:

Spoiler: collagen fibrils in patients with and without EDS

Figures a and e show collagen fibrils in the skin of people without EDS, and figure f shows a sample of corneal collagen in a patient without EDS. Figures b-d show collagen samples taken from patients with various EDS subtypes. The contrast between figure a, which shows a sample of normal collagen, and figure b, which shows the collagen fibrils of a patient with dermatosparaxis EDS, helps to provide an understanding of the severity of dEDS and why the tissues of dEDS patients are so fragile. Figure c shows collagen from a patient with classical EDS, and the arrows point to instances of the characteristic "flower-like" collagen fibril of this subtype. Figure d shows collagen from the skin of an EDS patient deficient in a connective tissue protein called tenascin X, and the lack of alignment with neighboring fibrils is clear when compared with the normal skin sample shown in figure e.
Source: Mao et al., J. Clin. Invest. 107(9): 1063-1069 (2001), https://www.jci.org/articles/view/12881

 

[La'el al'Nakita]

My mother-in-law had EDS and my best friend has it as well. I hope that more research will lead to better treatments and improved quality of life.

 

[Idine Espanyas]

Thank you for featuring this, Arinna. And thank you to everyone who has shared their experiences.

My best friend has EDS and mobility and chronic pain are huge issues for her. Her ankles have been injured for several years now and it’s been a struggle to get doctors to take her seriously or come up with a plan that will heal her ankles and allow her to walk again. Unfortunately she works a rather precarious and active job so she is unable to rest or take much time off to recover and heal. It sucks.

 

[Ben al'Den]

My wife has hEDS, so I’ve been learning a lot about this syndrome since she was diagnosed a few years ago. Something interesting about EDS that often gets overlooked is that many people with EDS are resistant to local anesthetics and require more than usual to get numb. Most often this becomes apparent at the dentist (a propensity towards cavities also goes along with EDS) and is something to keep in mind if there may be a need for dental work, an epidural, a c-section, or another medical procedure in the future. This is something that most dentists and doctors aren’t aware of, so don’t hesitate to remind your dentists and doctors about this, especially if you’ e experienced it before.

 

[Aliza al'Thyne]

For the month of May, the Servant of All Team is shining a light on Ehlers-Danlos Syndrome. Please join us this month to learn more about this group of disorders and discuss how to support those in our communities with EDS!

What is Ehlers Danlos Syndrome?

Ehlers Danlos Syndrome (EDS) is the generalized name of a collection of 13 genetic connective tissue disorders named after the Danish dermatologist, Edvard Ehlers, and the French physician and dermatologist, Henri Alexandre-Danlos.

Ehlers and Danlos first observed differences in disorders featuring lax skin in 1908 and 1904, respectively. Ehlers-Danlos Syndrome was formally named in 1946, and the categorization of various EDS subtypes has continued as the syndromes become better understood. The most recent classification system was established in 2017, recognizing 13 different subtypes of EDS. As may be expected from a group of syndromes so complex as to have 13 distinct subtypes, clinical manifestations of EDS can vary widely, from mildly loose joints to life-threatening cardiovascular complications, and the pain associated with EDS can range from mild to debilitating.

Basic symptoms:

• Overly flexible joints – Because the connective tissue that holds joints together is looser, joints can move far past the normal range of motion. Joint pain and dislocations are common.
• Stretchy skin – Weakened connective tissue allows skin to stretch much more than usual. A pinch of skin may be pulled up away from one's flesh, but it will snap right back into place when you let go. Skin might also feel exceptionally soft and velvety.
• Fragile skin – Damaged skin often doesn't heal well. For example, the stitches used to close a wound often will tear out and leave a gaping scar. These scars may look thin and crinkly. Bruising may also occur much easily.

If you're wondering what is meant by "stretchy skin" and "overly flexible joints," there is a helpful image below the spoiler tag:

Spoiler: hyperextensibility in (a) skin and (b) joints

Sources: Wikipedia, https://en.wikipedia.org/wiki/Ehlers–Danlos_syndrome; MayoClinic.org, https://www.mayoclinic.org/diseases-conditions/ehlers-danlos-syndrome/symptoms-causes/syc-20362125; Gensemer et al., Developmental Dynamics 250: 318-344 (2021), https://anatomypubs.onlinelibrary.wiley.com/doi/epdf/10.1002/dvdy.220; image from https://plasticsurgerykey.com/abnormalities-in-skin-thickness-and-consistency/

What's the deal with the zebra?

Ehlers Danlos Syndrome is classified as a "rare disease" as it affects 1 in 5,000 people. The following is commonly told to medical students and/or heard amongst the rare disease community at large:



Not only is this generally frustrating, but the same rare disease may present itself differently from person-to-person. Zebra stripes also vary from zebra-to-zebra. Because of this, multiple EDS-focused organizations (namely the Ehlers-Danlos Society and Ehlers-Danlos Support UK) have adopted the zebra as their logo and use it widely amongst their event and marketing materials.

Source: EhlersDanlos.com, https://www.ehlers-danlos.com/why-the-zebra/; https://www.ehlers-danlos.com/is-eds-rare-or-common/

(Programming note: while I'm the one posting this, much of the groundwork for our EDS focus month was laid by the awesome @Polegnyn Nemeara - many thanks to her for her hard work!)

I was diagnosed with EDS as a toddler, and my mother, sisters, cousins, and aunt also have it. Something often overlooked about EDS is that there is no specific test to tell you if you have it or not. Scientists have not yet identified which gene (if it's even only one) causes it, and consequently, there is no "definite" diagnosis or treatment. I always found EDS frustrating, especially as a kid when I didn't understand what it was and why I couldn't go on roller coasters and monkey bars like all my friends did. Thankfully, my family and I only have a milder version of EDS which mostly only affects joints and connective tissue, but we do have a history of heart problems, and my grandfather recently suffered a stroke. I think what really helps is spreading awareness about EDS, so that maybe, one of the people who hears about will go on to become a geneticist and cure EDS.