Dacre Knight, MD, on Hypermobility

Dacre Knight, MD, from Mayo Clinic-Florida, provides insights into hypermobility disorders, including Ehlers-Danlos Syndrome, and why they are difficult to diagnose and challenging to treat.

Dacre Knight, MD, is the medical director of the Ehlers-Danlos Syndrome Clinic at Mayo Clinic in Jacksonville, FL.

TRANSCRIPT:

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Welcome to this podcast from the Rheumatology and Arthritis and Learning Network. I'm your host, Rebecca Mashaw, and I'm very pleased today to have with us Dr. Daker Knight, who is an internal medicine physician at Mayo Clinic in Florida with some specialty interest in consultative and diagnostic medicine and evaluating and diagnosing unresolved illness. Which leads us to our topic for today, which is hypermobility, because this can create a lot of different conditions in patients, some of which are difficult to understand or diagnose properly. So we're going to start out just with a very basic overview of what exactly is hypermobility.

Dr Knight:

Yeah, well thank you for that introduction, Rebecca. Thank you for having me. And you're right, we're here at Mayo Clinic. I'm the medical director of our EDS clinic for Mayo Clinic, and we've been in the operation for over 5 years now.

But yeah, I think you hit the nail on the head that that's why we have opened up our services because there is a lot of complexity to it, a lot of confusion of where patients should go and to begin with. And because it may come up that someone mentions you're asking about what is hypermobility, it may come up with patients seeing physical therapy for some other unrelated reason or somewhere along the way they come upon this finding of being hypermobile.

So what does it mean? Well, we would say that hypermobility in itself is not necessarily the issue. I mean, there's plenty of people who are hypermobile out there that can be perfectly healthy, but usually it was when the symptoms start popping up and the puzzle pieces don't really fit together offhand. So that's when we start our investigations.

But to answer your question specifically, hypermobility can be graded by range of motion measures. There's some specific ones we look at, but if it's in the setting of a physical therapy exam or orthopedic evaluation, they may be accustomed to seeing patients with any degree of mobility. So they may be the ones to first recognize it. So the scoring mechanism that's used typically for screening is what's called the Beighton score, and that's how we assess hypermobility.

RALN: What are the elements of that score?

Dr Knight:

Yeah, so good question. And as a screening test, I'll be the first to say it's not perfect, right? We use it for screening in a way that it is accessible. It's pretty quick, it's cheap, it's easy. Those are the best screening tests that also still have a pretty good sensitivity, meaning that it's going to capture enough people that can be included in this diagnosis. So having said that, the Beighton score is not perfect because we're only looking at really a snapshot of the joints in 9 different areas, specifically, we're not looking at every single joint. That would take a really long time. There are some other measures that are out there, but the Beighton score is the one that is listed on the current criteria for diagnosing hypermobility types of Ehlers Danlos syndrome. So that score, as I said, 9 different areas, we're looking at small joints and large joints, so the hands, elbows, knees, and the torso and scored out of 9 in total.

RALN: Now, you mentioned that you're the head of the EDS clinic and that is shorthand for Ehlers Danlos syndrome, correct? That's sort of the highest level of hypermobility, is it not?

Dr Knight:

You could grade hypermobility on a whole range. If we're using the Beighton score as an example, you'd say 9 out of 9 is the highest you can get on that score. And then a score of zero, it doesn't mean that someone is not hypermobile because maybe they're 80 years old, all their joints are stiffened up, or maybe they have had surgery on all these joints. So that can skew it. So we definitely have to keep that in mind when we're doing these investigations and use our best clinical intuition of making that assessment.

Now, as far as severity of hypermobility goes, Ehlers Danlos syndrome is a specific diagnosis, so it doesn't necessarily pertain to degree of hypermobility. There's certain cutoffs for children before puberty. We'd say a cutoff of 6 is significant on a Beighton score, 5 after puberty, and then 4 over the age of 50. But we don't know yet. Science isn't told us yet what degree of hypermobility translates to symptoms. So is there a difference getting a score of 7, 8, or 9? We don't know that yet. We're still looking through that, sifting through that. So the diagnosis of EDS does not necessarily specifically relate to the actual number of the Beighton score. It's really just binary at that point. Is hypermobility present or not?

RALN:

So what is a diagnosis of EDS indicating?

Dr Knight: There is specific criteria we look at for the most common type of EDS, which is the hypermobile type. All others have a genetic basis that we can do genetic testing for, and we can make a diagnosis if we see a mutation on a genetic test. Typically we see, yes, we see hypermobile type of EDS much more common. And so prevalence is a little bit tricky to nail down, but it's thought to be at least one in 5,000 for hypermobile Ehlers Danlos syndrome, even more common to its sister condition, what we would call hypermobility spectrum disorder. So we think that's at least one in 500. So those are abbreviated HEDS and HSD respectively.

To make those diagnoses, yes, the first observation and investigation would be the hypermobility. So that's the first point; for Ehlers Danlos syndrome, the hypermobile type, we're looking at other tissue features. So we ask a variety of questions related to hernias, pelvic organ prolapse, skin texture, extensibility, other organ system features.

And then we also want to recognize that there may be pain related to this and joint instability. And the difference between HEDS and HSD then is simply just difference between those features. So HSD, we would say, yes, there's pain and joint instability, whereas you might not have as much tissue involvement as you do in HEDS.

RALN:

So EDS actually is a very wide ranging condition? It isn't just about the joints, it's about how this can affect many different organ systems.

Dr Knight:

That's exactly right. And we do know that in almost all of our patients, there is more than one organ system that is affected. And that is what complicates the matters when the diagnosis is first being sought, is that patients get misdirected to neurologist or rheumatologist or gastroenterologist and sort of bouncing around because these symptoms don't seem to match up at first. As we say in this field, if you can't connect the issues, think connective tissues. And so then they finally land in our clinic.

RALN:

So it can take a long time to get to that diagnosis.

Dr Knight:

Unfortunately, and that's probably where the greatest need for improving on this condition and access for this condition is because when it was first looked at in some European survey studies about a decade or so ago, it was an average of 14 years from the time of onset of symptoms until the diagnosis was finally made. It's improved a bit in recent studies. Some of our colleagues at University of Indiana identified a gap around 10 years now. But I mean, that's still far too long as you can imagine, going undiagnosed for more than a decade.

RALN:

So let's just talk about hypermobility in general. Is it more prevalent in women or men or is it equally distributed?

 Dr Knight:

Well, there certainly are sex differences, and whether that is equating to differences at a genetic level or other systemic differences, we don't know. That was actually our first research grant that we were studied is to investigate that because the diagnoses are certainly skewed heavily on women. Over 90% of our patients diagnosed are women. That begs the question, what is this? Is this something that women are more susceptible to in the sense that there's differences between the sexes? Like first thing we think of when we compare the sexes is sex hormones. Is there some benefit for having increased testosterone in men or having increased muscle mass, things like that, or stabilizing joints, maybe—we don't know. Or problematic effects of female hormones or progesterone and estrogen. And we do know that hypermobility can fluctuate through menstrual cycles and pregnancies and things like that. And so it's something that does need more attention because we think that if we do get those answers, then we will be able to come up with better treatments and such, knowing what it is that's relating to it.

RALN:

One of the things you mentioned earlier is that somebody could have been hypermobile earlier in life, and then as they get older, as we all find out, you get stiffer, your joints get stiffer, you don't have the flexibility that you once had. And one of the interesting things that I noted in a previous podcast that you did for our Gastro network, you mentioned this 5-point test. One of the questions is, could you ever bend over at the waist with your legs straight and put your palms on the floor? So just because you can't now, have you ever been able to do that? And I suppose that would be, have you been able to do that since early childhood? So age is definitely a factor in terms of how flexible you are at the moment.

Dr Knight: Absolutely. Well, that's where the question lies, because there are some things that can change just through just natural progression of aging. But what we are concerned about are the underlying mechanisms that cause these conditions, whether it's single gene, multiple genes, and honestly, the more time that goes by, it looks like there's many genes involved in this process, not just the single gene, at least for the hypermobility and HEDS and HST. But so yes, to answer your question, yes, hypermobility can certainly change joint stiffening and things like that. That's why we have those mechanisms of differentiating the Beighton score and what's pertinent there. You mentioned that 5-point questionnaire, which is a very good screening tool, in some ways even better than the Beighton score because it's even quicker and easier, and it does still have very high, very surprisingly high sensitivity and specificity.

And so those are just % simple questions that any primary care family medicine or internal medicine doctor can ask their patients. One of them is yes, if you could ever put your hands flat on the floor, and the other is if you could ever touch your thumb to your arm, and then if you were ever had any contortions or ever able to do the splits and things like that. And then also if you ever had repeated joint dislocations. And actually the scoring is based on 2 or more of these, you can Google these and see these quite easily out there to look at them further, but the score of 2 or more is relating to a high probability of having a hypermobility related condition. So yeah, it's important to get that initial screening done upfront to hopefully improve on that diagnostic time to diagnosis.

RALN:

So once you come to a diagnosis, whether it's EDS or HSD, what do you need to tell the patient about protecting themselves against injury that could be related to the condition.

Dr Knight:

That's exactly the question that comes up as to why we want to make these diagnoses sooner than later. I mean, not to mention all the other costs and time that's spent just going around seeking care, but because we want to get these preventative measures in place as soon as possible, and there are quite a few. Unfortunately, sometimes patients are told if they run into those who are not as knowledgeable about these conditions, they say, well, there's no cure for this. There's no point in making the diagnosis, so you're kind of off on your own. That couldn't be further from the truth because there are certainly things that can be done ahead of time and to prevent injuries and issues. And that's why one of the other common questions we get from our patients is, well, what about family members? I've got children who seem to be hypermobile. What are the things that can be done to help them? And the truth be told at first, the first things is that we see the issues commonly arise from sports and other athletic endeavors that people have done earlier in life, and they may have injuries from that. They may not know that those were injuries related to hypermobility conditions and such. We have a very high number who are involved in activities like dance and gymnastics and ballet and all of those that require some hypermobility. But we also find those are self-selecting activities that patients go into actually because they're very good at it naturally, but it can be problematic for joints. So the very first step that patients have when they see us and our EDS clinic is to meet with our physical therapy team to go through exactly that, which is a joint protection program and preventative education on what they learned that their joints can do, what they cannot do, and those things that you can do that you should do to maintain stability and function and avoid injury.

RALN:

Can you give us some examples of the kinds of exercise or therapy that people should take on? Is it about strengthening the muscles around the joint?

Dr Knight:

Essentially? Yeah, and I would also say that there is a lot of variability for patients. So really is best served as a one-to-one evaluation with a physical therapist. Of course, you would prefer a physical therapist who are knowledgeable about hypermobility, and they are out there. This is something that's really kind of part and parcel with physical therapy training and evaluation and treatment is joint mobility. So there are some very good ones out there, and certainly ours are a great help to our patients.

But when it comes down to, yes, so exactly like you said, so stabilizing exercises that can do that in a way that's not going to put patients at risk by those in-range motions that put the joint at the greatest risk of having injury; high impact activities are best to avoided. That's where we're recommending like swimming, biking, walking. Physical activity is the thing that we see that is shared among our patients who do have the best outcomes. So we really, really want to emphasize that. And whether it's done with physical therapy or any of these other low impact activities, that's just fine, but the consistency is the most important part of that that we've also found rather than the intensity. So much better to go for a light walk every day than to just do a marathon once every 6 months.

Now, when it comes to other exercises, you ask about those, a lot of our patients enjoy doing Pilates. I would say that's probably the single best type of exercise that's out there for these types of conditions. So if you're already into that or you enjoy doing that, then great, you got that settled. But if you would like to investigate that further, I know there's lots of good resources out there. So there are a number, and ultimately it may come down to individual preferences. That's just fine.

RALN:

What kind of injuries would a patient with hypermobility be most likely to suffer? Take us through some of the things that if this keeps happening to you, you may want to have this checked out and be assessed for a hypermobility condition.

RALN:

Right. Well, the most common, historically, the most common presenting complaint is unexplained joint pain. And this can come from any joint really. Larger joints may be more often than others, and certainly those that are greater risk of instability could be shoulders, for example. It may present like that. Yes, dislocations and subluxations, which are really just kind of milder dislocations can be prevalent, but it's the pain that really is the thing that is identified first. So here on the rheumatology talk right now, which is certainly relevant to that because joint pain is what a rheumatologist would investigate. If it's something that's been evaluated by a primary care doctor and it doesn't look like it's a specific injury—you twist your ankle or whatever you sprain your knee—if it's more widespread and more chronic in nature, then that's certainly where a rheumatology referral may come up and it's germane to these hypermobility disorders because that pain is present and is persistent.

And these patients may undergo evaluation for autoimmune disease, which rheumatologists specialize in and may be told that all their labs come back normal, the x-rays come back normal— then what? Right. And it's like, well, you can't tell me I don't have pain. My pain is there and it's real, and there must be something else. And so that's usually the path it takes. It may or may not be hypermobility itself per se, like dislocations, but at least the pain condition is there. And then once we recognize the pain, then we start realizing that there's lots of other things going on too.

RALN:

So is one of those giveaways, the fact that this does not show up on imaging. Somebody may go in and say, my knee is killing me. I must have arthritis. But you don't see anything on imaging.

Dr Knight:

That's exactly right. And that's where sometimes patients fall off, unfortunately. It's like, well, your tests come back normal, you look normal, and there you go and take some Tylenol. And the problem is that just doesn't work, and that certainly doesn't serve them well when they're dealing with other things related to gastrointestinal problems, IBS or migraines and other things that can come with it too.

RALN:

Okay. What about treatment? You mentioned physical therapy. So is this simply a matter of lifestyle adjustments and getting some PT and doing some exercise? Is that the best path to follow right now?

Dr Knight:

Yeah, ideally for any patient, we would love to get to a place where self-management is possible. They don't require multiple visits multiple times a week to their doctor or other specialist. Now upfront that it certainly may not be possible just to say, here's the information, go manage it on your own. So it does take more kind of one-to-one individualized care and attention because it's not necessarily just the pain that can be setting someone back.

Because let's take, for example, I just mentioned IBS or any of these other, we did a previous program together on stomach issues. All of these disorders, what we call disorders of the gut brain interaction, whether it's IBS or gastroparesis or dyspepsia, just kind that chronic nausea, bloating, vomiting, and things like that. Well, if that leaves someone deconditioned because they're not getting good nutrients and they don't have the energy to go about their day and do other PT or other exercises, then we're not going to make any progress. So we really have to zero in on all of those other things that are going on, and we have to identify them and address all of them on their own to really reach the best outcomes.

RALN:

So frequent contact with your caregiver and patient education is going to be a big part of this as well.

Dr Knight:

For any parts of these that may be associated. So yeah, so we say there is no cure. We're working on that. So stay tuned. Maybe that'll be our next podcast—hopefully we have some better research discoveries to share. But the truth is there is treatment, and that's the message we want to share with patients and to other providers out there too; don't ignore it, don't just brush it aside. There are things that can be done to certainly improve function and quality of life really is what is at stake, and we do find those improved outcomes, and that's what we want to offer to anyone to be affected.

RALN:

Clearly, a lot of research is needed. So what do you have planned?

Dr Knight:

Yeah. Well, yeah, I definitely love the opportunities and research here because it's just about any direction that you take any aspect of this disease. And there's so many questions to ask. And so there's a world of opportunities for anyone who's engaged in research, and that's what we welcome very much at Mayo Clinic because the access to the laboratory, our bench researchers who can do all this other kind of molecular investigations and things like that, so needed. So to answer your question, I think that we first look where the biggest gaps are, and one repeated point that we've made just in this past conversation is this gap in time from symptoms to diagnosis. And right now we don't have very good diagnostic tools. It's really just reliant on clinical expertise to those who know how to do these evaluations. And there may be long wait lists and access may be poor to get into the right place.

So if we can come up with better diagnostic tools, maybe we come up with a better lab test, even if it's not a gene specifically, but other biomarkers as we call them, lab tests, blood tests, things like that. So I think that's a very important direction of research to decrease this gap in time to diagnosis. And then the other one is, yeah, we're talking about treatments and that probably comes from identifying some of those biomarkers because then we can study those and see how it affects the tissue, and then we can use that for improving treatments in cures one day. We can always set our sights high.

RALN:

Well, this is a really interesting topic and I'm sure there will be much more to come on this subject as time passes, and I hope that we will have you back with some new revelations about what you've found out about hypermobility.

Dr Knight:

Definitely. And I would be so happy to share that. So that's what we'll be working on in the meantime.

RALN:

Alright, thanks very much Dr. Knight, we've appreciated talking with you today.

Dr Knight:

My pleasure. Thank you so much, Rebecca.