EDS & Co: what you need to know

by Ariela Paulsen
three patients with EDS/HSD & comorbidities one with a Mighty Well backpack, one with a cane

Friends in the Fight pictured above: @zebratissues, @bendy.bookworm, @classifiedanomoly

If you’ve recently been diagnosed with Ehlers-Danlos Syndrome (EDS) or Hypermobility Spectrum Disorder (HSD), odds are it was a long and challenging road to get there.  When I was diagnosed in 2017, patients with EDS/HSD struggled with symptoms for an average of 12 years before finding a diagnosis.  While physician education in recent years is rapidly bringing that number down, any time spent with mysterious symptoms is challenging, if not traumatic.  Gaslighting or misdiagnoses from doctors only increase this impact.  Once landing on a diagnosis of EDS/HSD, doctors may still not have the education or time needed to properly treat this complex condition.  Thanks to the patients who have reached out asking for more resources and support, we have decided to create a series of blogs this month with information on EDS/HSD and its comorbidities (commonly referred to as EDS & Co).  With these tools, we hope to empower other zebras to heal, advocate, and live a full life!

if you can’t connect the issues, think connective tissues

This phrase has become a rallying cry and helpful reminder for doctors learning to identify EDS/HSD in their patients.  Many of these patients spend a lifetime with a slow creep of mysterious symptoms.  Some may be small, like itchy eyes or joints that popped during puberty.  Because these issues do not seem at all related, it is difficult for providers to connect the dots.  Often, they are dismissed as hypochondriasis or anxiety.  This phrase offers an alternative – that perhaps the issues are multi-systemic because they originate from the glue holding all organs together. 

Your body has different types of tissues – muscle tissue, neural tissue, etc.  Connective tissues are the fibers that hold together all the other tissues.  It’s the glue in your body.  It needs to be stretchy enough that you can bend and stretch, but tight enough that you don’t become a floppy mess.  Connective tissue disorders can be caused by blips and mutations in the genes that encode collagen and other building blocks of connective tissue.  Think of it as the blueprints or the computer code getting altered, so that every building constructed by the blueprints, or every file created by the code, is flawed.  This could be a huge issue; if the blueprints of a building were altered so that the entire foundation was a mess, the building would not be functional.  More likely, though, it’s a small enough flaw that it went unnoticed for a long time.  But when trying to build an addition to the building, or when hit by a storm, suddenly that flaw becomes a problem. 

The same is true for connective tissue disorders.  You may have had it your entire life, but were able to work around it without quality of life being impacted too much.  But when you get a bad illness, have a trauma (physical or emotional), or have a hormonal change (puberty, pregnancy, etc), it can worsen until you have to face that something’s wrong.

The good news is that there are some interventions that can make a big difference, and there are many of us going through similar challenges, so there are plenty of opportunities for building community and crowd-sourcing for tips!

https://animals.sandiegozoo.org/animals/zebra

some labels to know

Hypermobility is the term used for joints that stretch too far.  It can also be called joint laxity or hyper-flexibility.  It is believed that 10-20% of the population is hypermobile, but many do not have any symptoms.  In fact, likely many professional dancers, yogis, etc, have hypermobility, but no health problems!  Confusingly, some hypermobile people are actually not flexible!  Our ligaments are too loose, so our muscles take over and tighten up, leading to stiff, inflexible joints.  Problematic alignment from loose ligaments can also cause arthritis, which makes joints even stiffer.  Many patients and doctors dismiss hypermobility as an option because when asked “are you flexible?” the patient laughs and says “no, I’m horribly inflexible!”

A common connective tissue disorder is hypermobility spectrum disorder (HSD).  To diagnose this, you simply need a qualifying Beighton Score and consistent symptoms.  If you don’t have a high Beighton score, consider your age/historical questions (e.g. if you are no longer able to touch your toes, but could until you were 20…), as well as any other examples of hypermobility, such as: 

  • Is your skin very soft or stretchy?  
  • Do your shoulders and hips pop out a lot?  
  • Does your spine get all wonky sometimes?  
  • Do your ankles overpronate?  
  • etc.

The (outdated) Brighton Criteria can help you think about other examples of hypermobility that may be missed by the Beighton score.  Most doctors right now are not well-versed in diagnosing HSD, so feel free to walk in with a Beighton and Brighton printout and any other research you’ve found helpful.  Ask them to look up the UpToDate article about Joint Hypermobility Syndrome (JHS), or just bring a copy of it into the room. 

HSD is a spectrum, and can look very different from person to person.  There are likely several different genes that could be causing it — we just haven’t identified them yet.  The Ehlers-Danlos Society is working hard to fix this though!  Part of the HSD spectrum is hypermobility-type Ehlers-Danlos Syndrome (hEDS).  Symptoms and treatment are basically the same as other patients with HSD, but the EDS society has separated this smaller group of people into their own category in their efforts to isolate the gene.

There are also other types of EDS, that you can find in this chart.  The important thing to know is that one type, vascular Ehlers-Danlos (vEDS) can be much more severe than the others, so if you have a family history of unexplained bleeding or vascular collapse, you should get tested for the vEDS gene, which has been identified.  Don’t freak out though — this type is very rare!  And if you had it, you would know already that something scary is in your family.

Other connective tissue disorders do exist, like Stickler syndrome, Osteogenesis Imperfecta, Marfan’s Syndrome, etc.  Ask your doctor if they think you should see a geneticist to rule these out.  If you have a history of heart problems and “marfanoid habitus” (the body type of Marfans, including exceptionally long limbs), you should check out Marfans.

DNA genetic illnesses EDS

a note on genetics

Most connective tissue disorders are genetic.  This means that likely someone else in your family has it to some degree.  As mentioned earlier, though, many people have mild symptoms and may not realize something’s wrong until an event causes it to worsen.  

There is also the possibility of spontaneous generation, meaning no one in your family has this genetic issue — you had a random mutation happen in your genes, that wasn’t passed down from either parent.  Your children, should you have any, would be likely to inherit it from you, however.

And finally, sometimes hypermobility issues can develop from other issues, like a prolonged illness or exposure to mold.  The theory here is that the inflammation in your body can damage the connective tissues in parts of your body.  In these cases, you may not have a faulty gene, but rather just tissue damage.  

symptoms complex multi-systemic chronic illness

symptoms

Because connective tissues are in virtually every part of your body, HSD/EDS can affect any organ system.  That being said, the most common issues are:

HSD/EDS is, for reasons that are not yet fully understood, associated with other conditions, or comorbidities.  There are also many well-explained complications that can arise from having flawed connective tissues.  If you have symptoms that are severe or aren’t easily explained, consider getting checked out for the following:

complications:

(it’s good to rule these out just in case, since they can get worse if not caught early!)

comorbidities:

**POTS and MCAS are especially common comorbidities of HSD/EDS. 

Check for POTS if you have headrushes, get short of breath or lightheaded, have trouble standing still without wiggling or getting dizzy, feel the need to sit/lay down a lot, experience fainting, vomiting, fatigue, or tachycardia (fast heart rate). **Doctors may not know how to test for POTS. Learn more here.

Consider MCAS if you have many (or weird) allergies, IBS, migraines, palpitations (heart pounding), fibromyalgia, asthma, hot flashes/chills/flushing, especially if any of these symptoms are triggered by foods, alcohol, temperature, smells, exercise, or emotions.  Testing for MCAS is very complicated.  Until researchers develop more accurate tests, many patients are given a “presumed diagnosis” of MCAS.  They can then try treatments to see if they offer any relief, for example taking Benadryl (**dye-free! Pink Benadryl may not help if your mast cells react to red dye) during a migraine or IBS event to see if it helps.  This may indicate that mast cells are at the root of the issue.  Consider tracking your foods and symptoms or asking your doctor to try a mast cell stabilizer to see if it helps.

physical therapy with EDS-aware PT

treatment

Improvement for HSD/EDS can mostly be found in careful exercise and listening to your body.  Strengthening your muscles will help tighten up your joints.  It is crucial to find a physical therapist who is well-versed in hypermobility, though – you can do further damage by trying to exercise without the awareness of what could make it worse.  The Muldowney physical therapists in RI are some of the best HSD/EDS specialists in the US.  If you are in the northeast, consider seeing them once and then buying the Muldowney protocol book to work on with a local PT.  The book has helpful info about what might be causing issues for you, and clear step-by-step exercises that you can easily do from home once you’ve gotten some basic guidance from a PT. There are also many braces, tapes, and other products that can help support each joint. You can ask a doctor or PT who is knowledgeable about hypermobility/chronic pain for suggestions, crowd-source ideas from HSD/EDS support groups, and do some trial-and-error on your own. For example, you may find that heating pads help one joint, while ice packs are helpful for another, and mint aromatherapy cream helps your headaches… it’s important to remember that not all hypermobile bodies are the same, so an individualized approach is best.

On that note, listening to your body is a crucial element of “treatment.”  If you need to sit in a weird position, do it.  If you feel the need to lie down, give yourself permission.  Find ways to slow down the pacing of your life (more on this in a post coming later!). Reduce stress wherever you can. Learn to tell what makes you worse, and avoid those activities.  Note: exercise may actually be a trigger!  This can happen with comorbidities like POTS and ME/CFS.  Talk to your doctor before resuming exercise, if this happens.  You may need to treat those conditions first, before continuing with exercise.

On the flip side, what makes you better?  I realized my hip stopped popping out for a week or so after a good hike, so now I’ve added that to my treatment toolbox!  If your joint is protesting, stop what you’re doing.  If your muscle feels tired and sore, that probably means you’re doing productive strengthening, but sharp pains or the feeling of pulling/stretching/straining your joints is not productive.  In general, avoid stretching altogether.  It feels really good for stiff, sore muscles to stretch them out, but in hypermobile people, this can actually stretch the ligaments as well, which are not like muscles — once they stretch out, they can’t tighten up again. 

On that note, pay attention to different types of pain!  You may be able to reduce pain by figuring out what kind of pain it is, and tracking what helps.  

Check out an example of pain mapping here.

moving forward with a diagnosis

next steps

That was a LOT of info.  Here’s where to start:

  • Talk to your doctor about all of this.  See what they think.  Feel free to bring research in with you, since they may not actually know about this stuff.
  • Find a hypermobility-aware physical therapist and start moving!  Even if all you can manage is a slow walk or some reclined PT exercises – motion is lotion to hypermobile bodies.
  • Pay attention to what you eat.  Try to cut down on highly processed foods, and notice what makes you feel better/worse.
  • Prioritize your life — it’s going to take work to let your body heal!  Are there any people/activities/stressors in your life that aren’t helpful right now?  Consider weeding down to things that will make you feel comfortable and happy.  And don’t forget to set aside self-care time, just for you, and rest! 

Community support can also be a gamechanger, whether for emotional support or crowd-sourcing HSD/EDS life hacks!  There are plenty of EDS, POTS, and MCAS support groups online and some in person.  You can also check out our Friends in the Fight Facebook group – although we are open to those whose life is affected by any illness, many of our members have EDS & Co and are eager to provide support and community!

Good luck on your journey! We are Mightier Together 🦓♡

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