Ehlers-Danlos Syndrome, often called EDS for short, was not something I was familiar with until after I got my POTS diagnosis. I first heard about it when I saw people talking about EDS in the POTS support groups, and from reading about it, I learned that a lot of people with POTS also had EDS. The amount of people with both is where it starts getting tricky, though.
You see, in 2017 the criteria for diagnosis of Hypermobile Ehlers-Danlos Syndrome changed, and on top of that change, a new diagnosis was introduced– Hypermobility Spectrum Disorder (HSD). Instead of answering more questions, it just created more confusion. What is this new diagnosis? Is Hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorder one in the same? What criteria changed? Who diagnoses you? Do I still keep my original diagnosis? What’s the difference between the two? Why does diagnosis matter? So many questions, and so few answers.
Trying to figure out where to start on this post is like working on a maze. Do I start here, insert that there, and get to the end from there? Maybe I should start there, insert that here, and get to the end from here? Either way, it will all come together, but making it make sense is where it gets difficult. I guess talking my way through this is the way. Let me start with the basics.
Ehlers-Danlos Syndrome
Ehlers-Danlos Syndrome (EDS), is a group of inherited connective tissue disorders. The way it affects the body is varied based on type, but it typically affects joints, skin, and blood vessel walls.
Symptoms of EDS may include joint hypermobility (joints that go further than the normal range of motion), joint instability and subluxation (joints that partially dislocate), full joint dislocation, other joint deformities including Scoliosis, skin hyperextensibility (skin that can be stretched further than normal), fragile skin, abnormal scarring, structural weakness including hernias and organ prolapse through the pelvic floor, and more. In the more rare types of EDS, other symptoms might be major gum or dental disease, life-threatening abdominal organ, uterine, or blood vessel rupture, cardiac root or aortic root disorders, and eye disease.
There are currently 13-types, and genetic variants have been identified for all but one type (Hypermobile Ehlers-Danlos Syndrome, or hEDS). Diagnosis is based on genetic testing for the other 12 types along with other diagnostic criteria, except for hEDS, where the diagnostic criteria is all that’s used for diagnosis. Some of the types of EDS include Classical EDS (cEDS), Vascular EDS (cEDS), and the most common type, Hypermobile EDS (hEDS). Since it is a genetic disorder, diagnosis is often made by a geneticist.
Hypermobile Ehlers-Danlos Syndrome is much more common than the other types. Some of the other types are only seen in about 1 in every 3,500 to 5,000 people. Since there’s so many undiagnosed and so much misdiagnosis, the true prevalence of hEDS is unknown, but around 80-90% of all EDS cases are hEDS. In the rarest of the types, it only occurs in about 1 in every 200,000, to 1 in every million in the rarest type.
Hypermobile Ehlers-Danlos Syndrome
Even though the genetic variant still has not been identified for Hypermobile Ehlers-Danlos Syndrome, it is still typically diagnosed by a geneticist. With no genetic component identified, diagnosis is based on clinical evaluation and family history. Some other doctors, mainly Primary Care Providers (PCP), are able to diagnose it, as the diagnostic criteria is online. I will say that from my experience though, that most doctors are not very knowledgeable about EDS. They may have heard of it, but they don’t know much, if anything, about it.
If you’re looking for the diagnostic criteria to show to your doctor for diagnosis, The Ehlers-Danlos Society has it posted on their website. The criteria has 3 parts, including the Beighton Score. The first part of the criterion checks joint hypermobility, the second part goes over symptoms of a connective tissue disorder, and the third part makes sure your symptoms and features don’t meet criteria for a different disorder with similar symptoms.
The Beighton Score is a numerical 9-point scale that measures joint hypermobility using a tool called a goniometer, which measures the ranges of each joint. The first one measures each pinky on your hands. You get 1 point for each if you can bend your pinky finger back past 90° on each hand. Next measures your thumbs, and again, 1 point for each if you can pull each thumb back to touch each wrist. Third measures each elbow, 1 point for each if you can hyperextend each elbow past 10°. Fourth measures each knee, 1 point for each if you can hyperextend past 10°. Lastly you get a point if you are able to bend over at the waist and place your palms flat on the floor without bending your knees.
In order to get a positive score, you must score 5 out of 9 points as an adult and 6 out of 9 points as a child. If the Beighton Score is 1 point below your cut-off as an adult or a child, historical questions will be asked. These questions are: Could you ever place your hands flat on the floor without bending your knees? Could you ever bend your thumb to touch your forearm? As a child, were you able to contort your body into strange shapes or could you do a split? As a child, did your shoulder or kneecaps ever dislocate on more than one occasion? Do you consider yourself “double jointed”?
The Beighton Score was first created in 1964 as a standardized method for clinical assessment of joint hypermobility. First a 5-point scale, it later became a 9-point scale (as it is today) in the early 1970s. That same year, the Beighton Score was introduced as a tool for epidemiological investigation of bone and joint disorders in South Africa. The investigation successfully surveyed 1081 people in a Tswana community in the Transvaal, South Africa, and details of the project were presented and later published.
The Beighton Score has been around for over 50 years, and although some think it’s a good diagnostic tool, I think it’s lacking. It only investigates a small percentage of hypermobile joints. It disregards the rest of the hypermobile joints like ankles, feet, hips, neck, wrists, shoulders, and more. They’re all overlooked and ignored.
Another disadvantage of the Beighton Score is that it’s an all-or-nothing test. It doesn’t ask the doctor to actually measure the joints besides checking if it goes past 90° for each pinky and each thumb and 10° for the elbows and knees. For example, both my elbows and my knees hyperextend a lot, way past 10°, and that’s not taken into consideration. My fingers are not very hypermobile (at least not to the Beighton Score standards, but I’ve been told they are hypermobile), but my other joints that are not taken into account are. This is why there’s so much misdiagnosis. I was marked negative for my fingers being hypermobile, but just given 1 point per elbow and knee when they are more hypermobile than the average person with Hypermobile Ehlers-Danlos Syndrome or Hypermobility Spectrum Disorder.
Before I get too far into what’s wrong with the diagnostic criteria for Hypermobile Ehlers-Danlos Syndrome, let me go over the rest of it.
After the Beighton Score is the second part of the criteria. Within this section of criteria, there’s 3 separate sections, labeled Feature A, Feature B, and Feature C. It states that 2 or more of the following features must be present, and each section has different criteria.
For section A, 5 out of 12 must be present. The features are:
- Unusually soft or velvety skin.
- Mild skin hyperextensibility.
- Unexplained striae distensae (more commonly known as stretch marks) or rubae at the back, groins, thighs, breasts and/or abdomen in adolescents, men or pre-pubertal women without a history of significant gain or loss of body fat or weight.
- Bilateral piezogenic papules of the heel.
- Recurrent or multiple abdominal hernia(s).
- Atrophic scarring involving at least two sites and without the formation of truly papyraceous and/or hemosideric scars as seen in classical EDS.
- Pelvic floor, rectal, and/or uterine prolapse in children, men or nulliparous women without a history of morbid obesity or other known predisposing medical condition.
- Dental crowding and high or narrow palate.
- Arachnodactyly, as defined in one or more of the following:
(i) positive wrist sign (Walker sign) on both sides, (ii) positive thumb sign (Steinberg sign) on both sides. - Arm span-to-height ratio ≥1.05.
- Mitral valve prolapse (MVP) mild or greater based on strict echocardiographic criteria.
- Aortic root dilatation with Z-score >+2.
Feature B asks if you have a positive family history; one or more first-degree relatives independently meeting the current criteria for hEDS.
Feature C mentions you must have at least 1 of these 3 present:
- Musculoskeletal pain in two or more limbs, recurring daily for at least 3 months.
- Chronic, widespread pain for ≥3 months.
- Recurrent joint dislocations or frank joint instability, in the absence of trauma.
In the last and final portion of the criteria, all of the following criteria must be met:
- Absence of unusual skin fragility, which should prompt consideration of other types of EDS.
- Exclusion of other heritable and acquired connective tissue disorders, including autoimmune rheumatologic conditions. In patients with an acquired CTD (e.g. Lupus, Rheumatoid Arthritis, etc.), additional diagnosis of hEDS requires meeting both Features A and B of Criterion 2. Feature C of Criterion 2 (chronic pain and/or instability) cannot be counted toward a diagnosis of hEDS in this situation.
- Exclusion of alternative diagnoses that may also include joint hypermobility by means of hypotonia and/or connective tissue laxity. Alternative diagnoses and diagnostic categories include, but are not limited to, neuromuscular disorders (e.g. Bethlem myopathy), other hereditary disorders of the connective tissue (e.g. other types of EDS, Loeys-Dietz syndrome, Marfan syndrome), and skeletal dysplasias (e.g. osteogenesis imperfecta). Exclusion of these considerations may be based upon history, physical examination, and/or molecular genetic testing, as indicated.
I went into the shortcomings of the Beighton Score, but let me tell you why the rest of this is also problematic. For Criterion 2, Section A, for example, it asks if you have or have had a history of an abdominal hernia. At the time of my diagnosis, this was not marked as a point for me because we did not know I had one. A few years later, I had an abdominal sonogram to check something else, and an umbilical hernia was found. Things like this aren’t done when being diagnosed for Hypermobile Ehlers-Danlos Syndrome, so they don’t have the complete picture for proper diagnosis.
Another issue is with asking if there’s a family history of Ehlers-Danlos Syndrome. Some people may know this, but most of us do not. They didn’t evaluate any of my family members, so there’s no way of knowing if there’s family history. Now, we believe it’s possibly from my mom’s side of the family, but we still have no confirmation, as she’s never been diagnosed.
Maybe telling my story will help put this into more perspective.
My Story
Before the criteria changed in 2017, I went to my first geneticist. She did a pretty basic exam on me, asked me a few (but not too many) questions, and told me I did not have Hypermobile Ehlers-Danlos Syndrome. No measurements were taken of any of my joints, no Beighton Score, and no genetic testing was done.
Fast forward a year or two later. A lot of my doctors still thought I did have Ehlers-Danlos Syndrome, since I was very hypermobile, and had quite a few of the EDS symptoms, not to mention POTS (which has the connection). My rheumatologist mentioned a different geneticist to see, one that specialized in diagnosing Ehlers-Danlos Syndrome, and said I should go because the diagnostic criteria had just changed. I made an appointment with him immediately. It took months to get an appointment, but when I did he spent hours with me.
He evaluated me in a way that was not done with the previous geneticist a year or two earlier. The Beighton Score was used, and he used a goniometer to measure the few joints mentioned in the Beighton Score. He asked my family history (however I couldn’t answer the question of if my family had EDS, as I mentioned above). While he did spend a lot of time with me, I still think there were things that were overlooked, and I didn’t realize it until much later.
I mentioned to him that a lot of family on my grandma’s side (2 uncles and 2 cousins) had aortic aneurysms. For this reason, I was curious if I possibly had Vascular Ehlers-Danlos Syndrome (vEDS), since this was something that can happen to people with vEDS. He told me not to worry about it, but did no genetic testing.
I was diagnosed with Hypermobility Spectrum Disorder (HSD). He told me I was just shy of the full diagnosis of Hypermobile Ehlers-Danlos Syndrome (by 1 or 2 points), and therefore, I had Hypermobility Spectrum Disorder. I’ll get into the definition of this diagnosis after the story. I had never heard of HSD at that point, and he told me it was a brand new diagnosis that was introduced with the new diagnostic criteria.
I learned that it’s treated the same as Hypermobile Ehlers-Danlos Syndrome. The biggest problem is doctors have never heard of Hypermobility Spectrum Disorder, and they’re completely unknowledgeable on it.
A couple years after diagnosis, I read that there should always be genetic testing, and a proper diagnosis shouldn’t be done without one. Now more than ever, I think it’s important for me to go to a third geneticist (as the one who diagnosed me stopped taking my insurance, and also stopped working with people with Ehlers-Danlos Syndrome, when he specialized in it before. I don’t know why). I think it’s important to make sure that it’s not vEDS, or even another type of EDS.
Hypermobility Spectrum Disorder
Here’s where it starts to get really complicated. Is your head spinning yet? I’m sorry. Imagine how mine is with all of these diagnoses. It’s a lot to learn and try to understand.
Hypermobility Spectrum Disorder, or HSD for short, is a group of conditions related to joint hypermobility (JH). HSD is diagnosed after other conditions like Ehlers-Danlos Syndrome and Hypermobile Ehlers-Danlos Syndrome have been ruled out.
There are multiple types of joint hypermobility that fall into the group of Hypermobility Spectrum Disorders.
- Generalized HSD (gHSD) – involves joint hypermobility in more than 5 joints and a positive Beighton Score. Usually something someone’s born with, and possibly inherited. Can be acquired though (for example, dancers and gymnasts, and from widespread inflammatory or degenerative diseases of joints, musculoskeletal tissues, and nerves.) Also includes one or more musculoskeletal manifestation.
- Peripheral HSD (pHSD) – involves joint hypermobility in hands and feet only. Also includes one or more musculoskeletal manifestation.
- Localized HSD (lHSD) – joint hypermobility at a single joint or a group of joints. Also includes one or more musculoskeletal manifestation.
- Historical HSD (hHSD) – joint hypermobility in more than 5 joints when younger, but no longer has this hypermobility. Includes a negative Beighton Score. Also includes one or more musculoskeletal manifestation.
To add even more complication to this, there’s also the asymptomatic versions of 3 of these diagnoses. They’re considered joint hypermobilities (JH). They include Asymptomatic Generalized Joint Hypermobility (Asymptomatic GJH), Asymptomatic Peripheral Joint Hypermobility (Asymptomatic PJH), and Asymptomatic Localized Joint Hypermobility (Asymptomatic LJH). There is no musculoskeletal involvement with these.
As for the musculoskeletal involvements with the other 4, the list of possible musculoskeletal manifestations are: trauma, chronic pain, disturbed proprioception, and other musculoskeletal traits.
The Problem with the New Diagnostic Criteria
When they changed the diagnostic criteria in 2017, they flipped everything upside-down.
In 2017, the International Consortium on Ehlers-Danlos Syndromes, which are an independent group of experts on EDS, met to discuss renaming the Ehlers-Danlos Syndromes and to recommend different criteria for diagnosis.
Before 2017, the abbreviation for Hypermobile Ehlers-Danlos Syndrome was HEDS or H-EDS. It was also known as Ehlers-Danlos Syndrome Type III. After 2017, it changed to hEDS, using a small “h”. Why it had to change, I don’t know, but it certainly adds to the confusion.
In addition to the abbreviation change, the diagnostic criteria changed, becoming even stricter. According to reading I’ve done on the subject, this meant people who were diagnosed before then would now not qualify as having hEDS by the new diagnostic standards. These patients would instead get the new diagnosis of Hypermobility Spectrum Disorder, or HSD. People who were previously diagnosed were worried, as they should have been. People who were trying to apply for disability were especially worried that this would change everything for them, and now make them unqualified for Social Security Disability. People who were already approved disability worried they would lose it after they changed their diagnosis. Can you imagine being told your diagnosis was being overturned and turned into a new diagnosis that was just announced? Few doctors even know about EDS, absolutely no doctors (unless they’re EDS specialists) know what HSD is, and they’re unequipped to even attempt to treat it.
It’s important to note that one is not more severe than the other. HSD can be every bit as severe, if not more so for some people, than EDS. And vice versa, EDS can be more severe than HSD, it changes based on individual symptoms and pain levels. The pain experienced varies from person-to-person, and some people may feel no pain at all.
The problem with any diagnosis that falls under a spectrum is that doctors (and the general population) start to believe that everyone who has this disorder falls under one category, and if they don’t have certain symptoms or present a certain way, they don’t have it. Think about the Autism Spectrum. There’s still so much misinformation about this disorder after decades and millions of people affected. Some people believe that if you’re a high functioning person, you can’t be Autistic, but it doesn’t work that way. It’s not all-or-nothing. There’s a reason it’s called a spectrum, because it varies so greatly in every single individual.
After hearing some backlash about changing diagnoses, the Consortium decided that anyone who was previously diagnosed was able to keep their prior diagnosis. If they were re-evaluated, however, they might lose their previous diagnosis. I’ve read stories from people who lost their diagnosis regardless of a new evaluation, though. And brand new diagnoses would have to follow the strict new criteria. Think about that for a few minutes.
To make matters worse (and even more complicated), if you got a diagnosis of HSD after 2017, and one of your family members got a diagnosis of hEDS afterwards, your diagnosis would change to hEDS as well. I understand if you were diagnosed with Generalized Hypermobility Spectrum Disorder, but one of the less severe kinds, that affects only a joint or two? What if they don’t have many of the other symptoms of a connective tissue disorder? A family member having something should not automatically change your own diagnosis. The chance of passing Ehlers-Danlos Syndrome to a child is 50%, not 100%.
hEDS vs. HSD: Does It Matter?
Now I feel like I should be pushing my own mother (or maybe everyone, to see where I could have even gotten it) to see a geneticist to see if she has EDS, but it’s hard enough to even find a new geneticist. Most geneticists have a wait list of one or two years minimally, so it’s impossible. On top of that, it’s unrealistic to ask this of family– to see if they have a diagnosis just to help me. I think mine is inherited from my mom, but I know she’d be unwilling to go through with seeing a geneticist on her own because she has enough on her plate. It seems to be the only way I’d get a true hEDS diagnosis though, because I don’t believe I got a correct (or fully accurate) diagnosis.
So because of all of this, a person who might have less symptoms than me, might have a full hEDS diagnosis, while I am stuck with the HSD diagnosis. You might be thinking “What’s the big deal?” or “Why does it matter?” Diagnosis matters, because doctors do not know what HSD is, and are not equipped to treat it. It also makes my disability case even harder than it already is.
As I mentioned earlier, I went to 2 geneticists, and one was before the criteria changed, but their evaluation was not nearly as thorough as it should’ve been. She even said I wasn’t hypermobile, when I’ve been told by multiple doctors since that I’m more hypermobile than most people who present with hEDS or HSD. It’s extremely frustrating.
My other doctors think I truly have Hypermobile Ehlers-Danlos Syndrome. Things the geneticist marked as negative, they’ve told me I present with, like skin hyperextensibility. The geneticist I went to only checked in one place (on my arm), and since the skin there isn’t “loose” or “stretchy”, he marked that as negative. It leaves me extremely confused.
Some doctors have told me that it’s likely they’re one in the same (especially for Generalized HSD), the medical community just hasn’t caught up yet. I think that’s likely. 1 or 2 points away is all that is keeping me from the EDS diagnosis. I present with a lot of connective tissue symptoms, and those aren’t even part of any diagnostic criteria for a diagnosis of Hypermobility Spectrum Disorder, only a full Ehlers-Danlos Syndrome diagnosis.
For that reason, and because my doctors seem to think it is hEDS, I’ve been using hEDS and HSD interchangeably, and even mention both on my bios for social media and my blog. What I have has to be more than Generalized Hypermobility Spectrum Disorder.
So when you wonder “Why do diagnoses matter?” and “What’s the difference?”, the list is endless. Without proper diagnosis, proper treatment is not possible. While HSD is a spectrum, those who are at the more severe end of the spectrum (like myself, if that’s what I truly have), are at a disadvantage. HSD does not account for the connective tissue aspect of the disorder. What about those symptoms? They’re discounted, because they don’t fall into a category or a box made to fit something else entirely.
Do we tell doctors we have HSD or hEDS? Well, I usually say hEDS, because I’ve yet to meet a single doctor (besides the ones that specialize in it) that have heard of HSD. Not one. And even if they did, they would assume I don’t present with connective tissue symptoms, which I do. It makes things completely different.
My veins are impossible. My skin is softer, more sensitive, and loose in certain areas. My pain level is very high, a lot of it from the hypermobility. My stomach is stretched and disformed as if I had triplets (I’ve never had any children), and has been since I was 8 years old, when I was put on Prozac for my OCD (this is another story I intend to tell soon). I’ve had stretch marks in places no one (without EDS) should have stretch marks since I was a kid. I’ve had Small Fiber Neuropathy since my late teens, early 20s, which must be from EDS. I’ve had pinched nerves and herniated discs in my neck since I was at least 18. My chronic pain started as a child. A child! My stomach and digestive issues started before I was even a teenager. I don’t know how to stand without locking my knees, because I wasn’t diagnosed with any of this until I was in my 30s. This is more than Hypermobile joints.
What if I was diagnosed decades ago? What if one of my childhood pediatrician’s actually noticed my hypermobility (which they should have, but of course didn’t), and told my mom I should be seen by a geneticist? I would have learned how to stand without locking my knees. I would be able to use my fingers without hyperextending them so much and not have issues with my thumbs.
There are so many things that would be different if only I was diagnosed before the chronic pain became debilitating. If only I was diagnosed before the arthritis and stiffness started to set in from constant subluxations and injuries (things I didn’t even know were happening until more recently). My hips have been popping out when I walk pretty much my whole life (my mom remembers me telling her this when I was in kindergarten; I didn’t even know it’s been happening for that long, I completely forgot). My ribs have been popping for a long time, and my back and neck pain has been for decades.
I thought I was just “getting older” as a teenager, and it was all pain that everyone always felt. I still don’t know what pain is “normal” and what pain is from EDS. It’s not like there’s a guidebook. There’s no direction, little help, and a lot of confusion and frustration.
