hEDS vs HSD: Controversies in Diagnosis with Alan Hakim, MD

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Dr. Linda Bluestein: Welcome back every Bendy Body to the Bendy Bodies Podcast with your host and founder, Dr. Linda Bluestein, the Hypermobility MD. I am so excited to chat today with Dr. Alan Hakim. I reached out to Dr. Hakim back in 2016 when I was starting to write a journal article about joint hypermobility and pain management.

most of you will know that he is just an incredible, incredible researcher in this space. He probably could be considered, he and Dr. Graham, the grandfathers of joint hypermobility and Ehlers-Danlos syndromes. So this is so exciting. His parting words to me after I was. asking him for some help with an article I was writing were spread the word.

That's literally what he gave, wrote those three words. And I was like, okay, that's what I'm going to do. And that's pretty much what I've been doing ever since. So super excited to chat with him today. Dr. Hakim is a rheumatologist based in the UK with academic affiliations in the United States.

His portfolio of work includes several high profile [00:01:00] studies in the genetics, genomics, proteomics, and epidemiology of EDS and HSD, and he works closely with academic labs and clinicians facilitating research, research funding, and identifying opportunities across translational medicine to better understand disease pathways and the development of new treatments.

As a dedicated educator, he facilitates learning, mentoring, and networking internationally as the lead medical advisor for various international conferences, the lead for the hugely successful EDS ECHO portfolio of programs, courses, and events around the world, and he is the author and editor of a variety of informational website pages, multiple research and review papers, and six books in medicine, rheumatology, and EDS and HSD. That is why we are so excited to talk to Dr. Hakim today. He is probably the best source of knowledge in this space. So it's super exciting to chat with him. As always, this [00:02:00] information is for educational purposes only, and it's not a substitute for personalized medical advice.

Stick around until the very end, so you don't miss any of our special hypermobility hacks. Let's get started.

 I am so excited to finally get to chat with Dr. Alan Hakim. Um, are we actually finally doing this? I can't believe it.

Dr. Alan Hakim: Yeah, we are.

Dr. Linda Bluestein: Oh my gosh. Um, so I just want to let you know, buckle your seatbelt because I have lots and lots of questions for you. These questions have been building up over, you know, quite some period of time. 

Dr. Alan Hakim: Oh dear. I'm ready. 

Dr. Linda Bluestein: okay. Awesome. So, so excited to, to chat with you. So, so let's just maybe start out with talking about the difference between hereditary disorders of connective tissue and acquired connective tissue disorders, because I feel like that's something that, you know, confuses a lot of people. So can you just give us a little, um, definitions or lay of the land with that?

Dr. Alan Hakim: Right. Yeah, absolutely. Um, it's confused me and most of my colleagues along the way at [00:03:00] various times as well. I think the starting point is, uh, to appreciate that we tend to use the term connective tissue disorders for a lot of different types of disease in, in, uh, in rheumatology. Um, and the term connective tissue disorders, um, was used for, um, quite a long time, up until a point where we started to use the term.

autoimmune rheumatic disorders to describe those inflammatory connective tissue diseases like rheumatoid arthritis, systemic lupus erythematosus, uh, Sjögren syndrome. Um, these are all conditions that I'm sure a number of your listeners have, have, have heard of, but really we call those now the autoimmune rheumatic disorders, even though they are part of the connective tissue disease group. So, have a look now at the hereditary disorders of connective tissue. It doesn't mean that some of these autoimmune disorders, like rheumatoid and lupus, [00:04:00] aren't hereditary and that they tend to be some families, but it's a different group of conditions. And so, uh, that's where we're talking about conditions like Ehlers-Danlos Syndrome, Marfan Syndrome, Loeys-Dietz Syndrome.

So when you're looking at the literature, uh, or you're reading, uh, some kind of commentary somewhere, you're on a website and you're looking at the term connective tissue disease, ask yourself, is this particular article or this paper talking about an autoimmune rheumatic disorder, or is it talking about one of the heritable connective tissue disorders like, like, um, uh, EDS?

Dr. Linda Bluestein: Okay. That's an excellent explanation. That's very helpful for, for me. Uh, I hate to ask you this so soon into the, into the interview here, but HSD, where do you think that might fall in, because of course, that's a diagnosis of exclusion, right? So,

Dr. Alan Hakim: Yeah, absolutely. Well, you know, there's always going to be a spectrum. Um, so, um, [00:05:00] having the word spectrum in the disorder was extremely helpful when we were thinking about how this fits. Um, and really when you look back through the literature, you can see that in essence, it's fitted into all of the descriptions from the moment that hypermobility was recognized as, as associated with musculoskeletal disorders.

And it's all in the joint hypermobility syndrome descriptors. The issue that, uh, that we, we had when we were looking at the, um, development of the new classification in 2017 is that, um, there was this merging, if you like, between joint hypermobility syndrome and hypermobile EDS in different criteria that had appeared in parallel with each other over the previous two decades.

So it's not really that hypermobility spectrum disorder suddenly appeared as a condition. It's a way to better describe what has been around for a very, very long time. Now, hypermobility of itself is inherited. Some of the work that I did way back when [00:06:00] demonstrated that the inheritance is about 70 percent of the explanation.

When you see it in families, you can acquire it, it can develop for other reasons. So, so you will see some heritable nature to hypermobility spectrum disorder, um, because hypermobility is, is, is heritable, um, uh, but, uh, thereafter, it, it most comfortably fits with hypermobility. Um, the Ehlers-Danlos syndromes within the heritable disorders of connective tissue because we use the term form froost, it's sort of coming first, it's, it's subtly expressing things but not expressing the full picture.

It's the form froost of hypermobile EDS and hypermobile EDS is the form froost of classical EDS. And so they just sit in this spectrum. And when you look at the way in which people present with their hypermobility and their musculoskeletal concerns in the context of [00:07:00] HSD, you can't really fit it in anywhere else.

It doesn't fit with fibromyalgia comfortably as a primary diagnosis. It doesn't fit with osteoarthritis as a primary diagnosis. It fits with the heritable disorders of connective tissue where Hypermobility and hypermobility related musculoskeletal problems, uh, are the, are one of the main issues. Move, move over to the, uh, the whole exploration of, um, all of the comorbidities.

Um, and we're in a slightly different conversation there because although you can see that the comorbidities that we see in HSD, uh, light pots, um, orthostatic hypertension. Um, uh, some GI disorders, although they, they look identical, uh, to, uh, people who have, have, um, hypermobile EDS. And there has rightly so been conversation, doesn't that, does that make them the same thing?

Actually, you see those comorbidities in other conditions as well. [00:08:00] You actually, you actually see them in the rarer types of EDS and you see them in chronic fatigue syndrome and you see them in fibromyalgia. So at the moment. Whilst we recognize the comorbidities more and more as part of the clinical concerns that people have with HSD, even though they're not in the criteria for HSD yet, I use the word yet, um, we can't say that they either separate or merge with.

other diagnoses like hypermobile EDS yet because they're seen in so many other conditions. So it has a home in its own right within that spectrum, really I would say right at the beginning of all of those various issues that we describe along the way from hypermobile, hypermobility spectrum disorder, all the way through to the rarer types of EDS.

Dr. Linda Bluestein: Okay. That, that, that's a, a great explanation. 'cause of course, with the comorbidities, a lot of people are frustrated that they aren't part of the criteria, but then it gets really messy really quickly, right? If you start putting the comorbidities in the criteria, that's something [00:09:00] that

Dr. Alan Hakim: well, there are a couple of things that, um, um, that, um, uh, your listeners may be interested to know. Um, first of all, we're doing a, um, a very large study. It's called a prospective study. So we're taking, uh, patients in real time and we're looking forward, um, uh, rather than trying to capture data, uh, from when we've met them in the past.

Uh, and we're exploring, um, What the similarities and the differences are between people who are di diagnosed with HSD, people who are diagnosed with hypermobile, EDS, pe and people who have a chronic pain disorder that isn't related to any form of hypermobility. Can we tell the difference between them or are, uh, or indeed the similarities between them?

That's, that's one important question, and having that baseline will be really helpful because as. And I'm sure this will come up in your other conversations, things like new biomarkers or possible genetic markers come to the fore. We actually then have a very, very rich, [00:10:00] very clearly defined patient population from that study that we can test all those markers on.

Um, uh, so that's, that's one thing. The second thing, um, that I think is important for us all to remember is if you look at a lot of the studies that we've done so far, Um, internationally, um, there's been, um, a lot of, um, evidence published of the associations within a group. So, uh, POTS within HSD, POTS within hypermobile EDS, but there hasn't been a lot of cross comparison with other populations, with other illnesses, or with the general population.

So whilst we can see that it's common, it's quite difficult at the moment from the literature to show that it's more common than another condition. or more common than the general population. But we're getting there, and it's that kind of information that we need to be able to put things into criteria. 

Because if you just say, for example, POTS is a criteria for a diagnosis of hypermobile EDS, if it's also a [00:11:00] diagnosis in 90 percent of condition X or condition Y, then it doesn't really help you to define the diagnosis. The, the, uh, um, the thing that we have to get forward is that the, the criteria that make the diagnosis just make the diagnosis.

They don't infer that, that, that those are the only problems that the person has. And so the associate recognizing the associations is so important if they happen to become part of the criteria. That maybe elevates them and makes people more aware, but they don't have to be part of the criteria for everybody to listen, understand, and recognize that there is this complication or there is this condition that's present, aside from the primary diagnosis.

Dr. Linda Bluestein: Okay. That's really helpful. And it's something like POTS that's become, I think, more common since COVID, right? It's even probably harder to assess than something that's super rare,

Dr. Alan Hakim: Correct. [00:12:00] Yeah. If it's super rare, it's actually much more likely to become part of the criteria, bizarrely, because it's so strongly associated with one particular circumstance that if you see it, it That's what it is. Um, if it's, if it, the more common it becomes, unless you can demonstrate a mechanism that's directly related to the disease you're talking about, then it becomes an association and it's very difficult to make it a specific criteria. Um, and you know, you see this in, in, in all other walks of, um, of criteria development over the years for different diseases. I've discussed this before at different, you know, at different meetings that, um, no one set of criteria anywhere where there's this breadth of, if you like, heterogeneity and, and, and variety in symptoms is going to be absolutely, you know, specific to your, to your diagnosis, um, because it's common in, in, in lots of places.

But. Um, it doesn't stop, uh, um, it [00:13:00] should not stop, uh, clinicians, um, uh, patients from understanding all of these different associations and how they manifest as part of their disease.

Dr. Linda Bluestein: Okay. I'm going to move on to talking about joint hypermobility and specifically generalized joint hypermobility. And of course, you've written so many papers on all of these topics, right? Um, and this is actually your papers is where I really first started learning about. about all of this, uh, back in 2016.

And so in terms of generalized joint hypermobility, of course, we have the Beighton score, which we know is, you know, we know there's problems with that, but it's used for research purposes, especially, right? And then your five point questionnaire that you developed with Dr. Graham in, uh, 2000 or published in 2003, which is a fabulous tool, especially for assessing historical joint hypermobility.

Um, what do you think is the best way to assess for generalized joint hypermobility? Uh,

Dr. Alan Hakim: Yeah. So let's start with the fact that no [00:14:00] score is perfect.

Dr. Linda Bluestein: yes.

Dr. Alan Hakim: if you go to the other extreme where you look at the upper limb score, um, uh, and the, uh, the lower limb score and the foot score.

Dr. Linda Bluestein: hmm.

Dr. Alan Hakim: There have been beautiful studies looking at the validation of these, but they're immensely complex to, to do. Uh, no generalist, no general physician, no acute physician in any department's ever going to have any time to do any of that. No GP. So there's no perfect score. Um, uh, and, uh, and, um, you know, there's, there's been several papers that have been written about this. The first thing that I always say about any scoring system that's applied, for example, as part of teaching or, or, or the criteria, and typically that is the Beighton score, is it's your, it's your first window into whether there might be an issue here.

Dr. Linda Bluestein: Mm

Dr. Alan Hakim: So, um, if we take the cutoff score of five out of nine as suggesting that there's going to be generalized joint hypermobility, uh, just for, just for the rest of this conversation, if the score is five out of [00:15:00] nine or more, Then, uh, everyone can, can, um, can be quite confident that there's a very strong likelihood that this person has generalized joint hypermobility. Even then, it doesn't tell you which joints are hypermobile, and a clinician who's assessing somebody, a physiotherapist, a doctor, anybody, needs to look at all of the joints. And in particular, the ones that are causing the symptoms, the grief, because that's the only way in which you identify the true breadth and nature of the problems related to the hypermobility.

So, um, I say that because, um, Whichever way you look at it, you've got to go beyond your identification of the Beighton score. So if it's five or more, that's great. You're in. Now let's go and understand the exact breadth of all of this. Um, now it's exactly the same if it's four or less, because if you've got, so this is, this sounds a bit [00:16:00] illogical, but if it's four or less and you have somebody with you who you think, Hmm, this sounds like a heritable disorder of connective tissue because of all of the other things. The world is not just about the hypermobility, uh, the diagnosis is more than that. Then, then if you've got somebody with four or less, then you're thinking, well, okay, well, this isn't generalized joint hypermobility, then you've missed the point. you have to do is you have to go and have a look at all of the joints and determine whether there are features of hypermobility instability that may be the cause, a root cause for the, for the musculoskeletal symptoms that the person is presenting with in the context of hypermobility.

All the other signs and symptoms that they've got. So, all of these tools were designed to try and capture, um, audiences for research. Um, I hope from what you can tell, um, uh, of what I've said, they're not great in clinical practice. They are a guide, and they get you more or less into [00:17:00] the right space, either very confidently from the get go, or, um, uh, they can muddle you a little bit if you think there's something going on, but the, but the Beighton score isn't quite right.

Thanks. And, and, I mean, there are lots of reasons why the Beighton Score may be low. Um, the individual who, uh, uh, um, the individual joints that you're examining may be damaged, may be injured, may be painful, um, difficult to move, um, so you can't assess them. But therein is the observation, I can't assess this, what is going on with this joint.

Are there any other clues anywhere else in the body? So, uh, does that mean that it's a dead duck? No, it doesn't. You have to find other clues. other ways to improve on this. And one of the things that we looked at in the international consortium working group on hypermobile EDS and HSD was whether you could use those other upper limb and lower limb scores and the foot score parts of those [00:18:00] to really embellish, if you like, the Beighton score.

And the answer is you can. Some work was done to look at how they correlate with each other. Um, it would be, um, wrong of me to tell you exactly what they are at the moment because they're in the middle of a study to see how well they actually work, but they won't be a surprise to anybody. No, I can tell you, it won't be a surprise to you that, that, that, um, if you look at the wrist and the shoulder and the hip and the ankle and the big toe,

Dr. Linda Bluestein: hmm.

Dr. Alan Hakim: They are another five areas that aren't in the Beighton score really help enrich whether you've got somebody with generalised joint hypermobility or not.

And there are relatively straightforward tests that, that clinicians can do to demonstrate that, uh, that range of movement. And so we're exploring that as part of this. prospective, um, uh, study for the, uh, review criteria, uh, and, um, hope to be able to report the value of them, uh, as, as, uh, additions, uh, to the Beighton score.

Dr. Linda Bluestein: [00:19:00] Yeah. And you and I had a conversation. Uh, of course I, I probably remember it way better than you do because you've had so many conversations with so many people, I'm sure. But back in 28, uh, 2018, at the conference in Baltimore, we were chatting about joint hypermobility and how joint instability is probably even more important.

Right. But that's, harder to assess, right? So you're talking, I love how you describe that about the Beighton score, you know, if it's greater than five or less than, or four or less that, that you, you should still be taking a similar approach. And of course that's challenging with people who maybe don't see as much of this population and are maybe trying to understand the criteria and how to assess these patients.

And then you get to the level of like assessing joint instability and that's, Even more complicated. Do you, do you have thoughts about that?

Dr. Alan Hakim: Yeah, I absolutely do. I wish I had an answer for it too, but you're, you're absolutely right. You know, it's, I want, I actually wonder whether it's the instability that is the, um, uh, the, the [00:20:00] greater problem than the hypermobility. And that, and that this is why, um, we see people who are hypermobile who are completely well.

Uh, and what I'd really love to do, uh, is a study that looks at well hypermobile people and see how unstable their joints are, compared to unwell hypermobile people and how unstable their joints are. Um, joint instability is a tricky one. Um, you'll see from some of the infographics that we produced at the, uh, the Standard Law Society, um, uh, descriptors of, uh, that we put on social media, little infographics descriptors of, uh, What is a dislocation and what is a subluxation?

Uh, so subluxation is a slippage of the surface of the joints, but not so much that they come apart from each other. Um, and it is extremely difficult to assess that. In fact, there are no defined criteria for what that looks like, what that feels like, but so many of us who've been in clinical practice for too long, just know that you can feel it.

Um, and [00:21:00] actually when you show it to, uh, to your patients, they can see it. I had a, um, a wonderful example where I went to, uh, shake the hand of a, of a person at our most recent conference, and the whole wrist just went clonk, clonk, clonk, and it's like, well, yeah, you've got an unstable wrist. You know, so clinically with experience, you can pick them up.

How do you teach the generalist to, to, to spot this? How do you teach the, uh, um, the individual in the community who's experiencing this to better describe what they can feel is going on? Um, so there are some tricks. Uh, you can see a little, you can see a little sulcus in the, uh, a little dip, um, uh, or dimple, uh, in the side of the shoulder.

When it's subluxing. Uh, you can actually see the rest. You know, wobble all over the place, and people can wobble their joints without actually dislocating them. So there are visual ways to demonstrate this, but they're not very easy to teach, and they do come with quite a lot of experience. [00:22:00] My personal view is it's less about the hypermobility and more about the instability in the presence of the hypermobility.

And of course, what a lot of, what a lot of, um, uh, therapy, um, uh, uh, does is to try and improve that stability without losing the range of movement. So intuitively we've known this for a long time. It's just hard to describe.

Dr. Linda Bluestein: Yeah. Okay, and then thinking further down about the criteria, especially for hypermobile EDS, because we know that's by far the most common type, in terms of criterion 3, where, you know, we're supposed to be excluding acquired connective tissue disorders and things like that, right? So, what tests do you use?

in particular, do you think are, or are ways to work that up that, um, you, you wrote a fabulous article quite a while back about why hypermobility matters. Uh, that was for, for clinicians. That was so well done because it was just, if you were to kind of just synthesize [00:23:00] What people can do, again, the generalist, or, you know, what they can do, what test do you think would be most important there?

Dr. Alan Hakim: yeah, I wish, I wish you'd alerted me that I'd written it because I think I've forgotten it. Um, oh, it's just, it's just now ingrained in my, in my DNA.

Dr. Linda Bluestein: well, and, and, and if there's something that we want to add after the fact, we can, we can do that too. You can email it to me and I can, I can put it in the show, show notes. So yeah.

Dr. Alan Hakim: So, so just thinking about clinical practice and some of the, uh, some of the teaching, um, that, that, that we do. The first thing I want to say, I think, about criteria three is it's not an all or nothing. Um, it's, it's written in a way that I think isn't at the moment very helpful, and we are thinking about how, how you rewrite this, because it, it almost suggests that if you have, for example, an inflammatory rheumatic disorder like rheumatoid arthritis or lupus, that you can't have hypermobile EDS.

And, and it doesn't, it doesn't, that, that isn't true. Um, and I can see from the, from, from the wording how you could infer that. But that isn't what [00:24:00] it means. Um, so, if you're trying to determine whether the hypermobility and the instability and maybe some of the skin signs, for example, the bruising, are much more related to some kind of autoimmune inflammatory disorder, then you need to go down that pathway and make sure that you've excluded the autoimmune rheumatic diseases.

So, There's a panel of blood tests there and there's, you know, further assessment for the possibility of the explanation in front of you being more likely to be due to Rheumatoid or lupus, for example. That's one thing. I think the trickier thing relates to, um, uh, to the, uh, muscle weakness and the myopathy side of things.

And in our, uh, groups, uh, where we present very, very difficult cases in terms of diagnosis or therapeutics, Just occasionally, um, it's become obvious that the story is one of, of, uh, profound muscle weakness, uh, either in a block of muscles, say, neck across the [00:25:00] shoulders, or, uh, pelvis down into the thighs, maybe the calves, and then, and then you, you realize, um, that actually you're looking at a pattern that's much more myopathic.

And that doesn't mean that it's necessarily a myopathic variant of Ehlers-Danlos syndrome, it means it's a myopathy. And so the other thing that we need to be, think, uh, need to be cognizant of is whether there is, uh, some kind of muscle disorder. And that might require further investigation. You know, and, and I've, I've, I've, I've seen the, um, uh, the accounts of, of, um, people being identified as having mitochondrial.

Uh, diseases of the muscle and various other myopathies, um, where, um, there wasn't another explanation that really made sense around hypermobile EDS. So just, just, just to, I think, I think, um, uh, Criteria 3 should almost be used as a, as an aid memoir that there are other quite, um, quite important diseases that you need to think about in the differential diagnosis to make sure you don't miss something.[00:26:00] 

That might, that might be the primary diagnosis as opposed to, well, it can't be, HEDS that.

Dr. Linda Bluestein: Yeah.

Dr. Alan Hakim: so one of the things that we're doing as we look at the criteria is, is thinking about how one remodels the structure of the criteria. Because at the moment, you only get in if you've got the generalized joint hypermobility.

We've all discussed the issues around that. So if you don't get that right, you don't get in.

Dr. Linda Bluestein: Right.

Dr. Alan Hakim: then, then there's a whole series of, uh, well, what is, what is the, the, the phenotype, the features that make up the condition look like? Well, that's all being explored in detail and some as part of this study.

Uh, um, the, the whole issue of, uh, family history and, uh, chronic pain symptoms and things like that is important, but, but probably not very sensitive. Because we know that there are strong family histories and we know that the two most common symptoms are widespread pain and chronic fatigue. So they're not going to really tell you very much in comparison to everybody else, but they need to be in there.

And then that, that final bit, [00:27:00] uh, with we, uh, we're exploring, well, okay, um, what have the clinicians identified that have made them think that it could be something else? What are the clues? And, and indeed, what we'd probably want to do is add in biomarkers into that place. You know, please test these biomarkers.

And we'll be talking about the diagnosis as they come in, so that we're testing for the diagnosis as opposed to excluding it. And just reminding everybody else that there are other diseases out there and you do not want to miss them.

Dr. Linda Bluestein: And it's such an interesting point because I think, you know, the Ehlers-Danlos Society has done such a great job of raising awareness about the Ehlers-Danlos syndromes and HSD and, you know, this group of conditions. At the same time, I feel like I've seen these people either in my clinical practice or I, you know, I encounter them on social media where once they learn about EDS, like they want that to be the diagnosis because they want a diagnosis and they've been gas lit or whatever.

And so they, they haven't. Um, they haven't had a proper workup maybe yet. And [00:28:00] so they, they find that and they think that's, that's going to be something that I'm going to fit into. And I ask people to also keep an open mind because if you go to your doctor and you say specifically I think I have hypermobile EDS, they might not test for those other things.

And I have seen patients, I had a guy come in who was a construction worker and like suddenly couldn't. And, you know, he just couldn't walk and he was coming in, in a wheelchair and it's like, Wait, something is majors going on here. And he, I mean, he had profound muscle weakness and he, you know, he thought it was EDS and I don't, you know, I don't think it was myopathic EDS.

It was like, there's some other process going on here and you need a really thorough evaluation. So I also think sometimes people prematurely might latch on to certain diagnoses. And if they, if they do that, then they're, then they're leading their clinician down a path that maybe is not the right path.

You Mm hmm. Mm

Dr. Alan Hakim: think you're absolutely right. And we do talk about this a lot at our conferences. Completely understand the importance of a [00:29:00] diagnosis. To be able to hang all the different things on, but therein lies the crux. If the things that you're hanging on it are different, have changed substantially, and don't make sense, then please, please, please don't let everybody say, well, it's due to your EDS.

Dr. Linda Bluestein: hmm.

Dr. Alan Hakim: You would never do that in any other condition. Uh, you know, if somebody with diabetes came along with, with, uh, a big black wart on their skin, they, the doctor wouldn't say, oh, that might be due to your diabetes, and just dismiss it. They'd go off and they'd look for skin cancer. You know, that, that's a, that's a, you know, a soft example, but it's an example of, in principle, of how it can go wrong.

If somebody, if somebody, well, first of all, if it's the wrong diagnosis, and secondly, if every, if everything that you are, uh, experiencing is then labeled as due to that diagnosis. And in the as as you described, I've seen several people, um, who have, um, presented with various symptoms of things that are, are relatable to [00:30:00] EDS, but are a different diagnosis.

Um, or worse, still have absolutely nothing to do with anything in our territory. And I've only picked it up because I'm an internal physician thinking, well, I need to get the textbook of medicine out here because this does not make sense. Um, and they've been, you know, and they've been left and we've picked up a couple of things, including cancers, which, uh, you know, is, is it, it's difficult for everybody.

But the bottom, the bottom line to this, the message here is do not let anybody EDS. If it doesn't make sense to you, it's probably because it doesn't make sense.

Dr. Linda Bluestein: Right. Right. And I think maybe it was, uh, our colleague, Dr. Heidi Collins, who said this, uh, people are entitled to as many diseases as they damn well please.

Dr. Alan Hakim: Yeah,

Dr. Linda Bluestein: So,

Dr. Alan Hakim: a, it's a, it's an unfair world, and yeah, you're allowed more than one for sure.

Dr. Linda Bluestein: yeah. Yeah. I think, I think people forget that so often. I think that is so important. We're going to take a quick break [00:31:00] and when we come back, we are going to talk about when to do genetic testing. 

Okay, we're back with Dr. Hakim and having, hi, and having such a great conversation about the Ehlers-Danlos syndromes, hereditary disorders of connective tissue, inflammatory autoimmune, rheumatic conditions, um, you know, so many things that people have been wondering about and I know they're already learning so much.

A really, really, um, hot topic is, you know, when to perform genetic testing. I would love to hear your thoughts on that.

Dr. Alan Hakim: Okay, so when to perform and what to perform, I suppose, uh, the things that go through my mind, uh, in clinical practice. So, if you take it from a criteria, um, uh, standpoint, uh, and, uh, what we know of the different features that make up the rarer types of the monogenic EDS. So, classical EDS, vascular EDS. You, um, you can actually, um, sort of line up what we call the red flags.

Um, as signs, um, or, or aspects [00:32:00] of the history that would, that would make you think, Ah, the person in front of me or the family in front of me, um, potentially has a rarer type of EDS, and I should do some genetic testing to. Either identify that or exclude that. Um, so the kinds of red flags that we're looking for would be, um, uh, things like extremely stretchy skin that's very, very badly scarred.

Um, uh, um, uh, a, a, a personal history or a family history, uh, of very severe bruising, um, uh, deep clots under the, under the skin hematomas. Uh, or, uh, even a vascular rupture, sudden collapse, those sorts of things. Very severe scoliosis, uh, clubfoot, um, abnormal body shape where you're, uh, um, marfanoid with a, with a, uh, an abnormal pigeon chest.

But all these different features, they're called, they're called red flags. And so what they're, what they're doing is they're taking the clinician's mind from the, okay, I have somebody who [00:33:00] has hypermobility, joint instability, Skin signs, other tissue signs. Um, it feels like it could be hypermobile EDS, but, and it's the but, there is this really profound thing that's going on.

Um, uh, that, that says, this, this fits actually more with, one of the rarer types. Now, one of the pieces of work that we're trying to do after, um, um, the 2017 classification criteria is, is try and amalgamate that collection of things that we look for into something that's a bit more tangible for clinicians.

So rather than go, oh, Could it be classical EDS? Let me just have a look at the classical EDS criteria. You know, could it be vascular EDS? Let me just have a look at the vascular. Rather than do that, which is quite frankly intellectually mind numbing and doesn't work in clinical practice.

Dr. Linda Bluestein: Mm-Hmm.

Dr. Alan Hakim: The pathway, if you like, towards the clinical decision making is, okay, is there something really odd from that collection of [00:34:00] things that makes me think I need to do some gene testing?

And what we do now is a gene panel. So we don't go testing for classical EDS or for kyphoscoliotic EDS, we do a panel, um, which, um, they vary slightly, but in essence, they've got all of the major Uh, genes that we're aware of that clearly describe the different types of EDS. And so when that comes back, if it comes back as, as, um, likely pathogenic or pathogenic, then you, you're home and dry from the diagnostic perspective.

Sometimes they come back as variants of unknown significance, which we can pick up in a moment. That's a bit tricky, but, you know, clinicians are Allowed to work through the presentation and the variance of unknown significance and think, well, this, we're still going to treat this the same. So, that's the first thing.

Um, and I think within that actually, there may potentially in some quarters have been some misconception about the vascular pathologies because Vascular [00:35:00] doesn't mean POTS and hypotension, um, uh, these are, these are vascular issues, but that, that's not what we're looking for when we're looking at the red flags that would suggest something like, uh, vascular EDS or one of the other.

Vasculopathies within that group. So that's where we are at the moment. Now, where we will be as the the genetics unfolds for hypermobile EDS is a totally different question, and I will have to come back to you when all of that gets published. Our general feeling overall in the conversations that I've seen, you know, internationally, um, is that, is that because HSD and hypermobile EDS is quite a heterogeneous group in general, I've used that word twice now in this interview, but it's, you know, there are lots of people who've got similar things going on, but they're also different from each other.

Um, I suspect what we'll [00:36:00] find as we identify particularly the markers for, uh, for potential genes or even other markers a little bit further down the pathway, like protein markers and things, is that we have to have a look at the, at the presentation that each of those individuals has, and that we'll, and that we'll probably get lots of little groups.

I don't think that we'll suddenly call them multiple different types of EDS. I think they'll just be, there'll be, um, there'll be things like the red flags will go, okay, well, if you've got this, this, and this. do that gene test. Um, and that's, that's how we'll get there. So at the moment, a lot of people will say, well, I just can't, I can't get to see a geneticist.

Um, I can't get a genetic test done. Um, the, the boundaries there, uh, to, to, to, to, to that part of sort of clinical service and clinical care, um, I think rightly relate to the fact that if you haven't got those red flags, if there are no clinical suspicions, of those rarer types of EDS, then you, then you shouldn't be having genetic [00:37:00] testing.

Um, in, um, I know that there are some individuals, and I've done this myself, who want to get genetic testing done to absolutely exclude it and be completely sure. That's fine. It excludes those, those conditions, but it doesn't exclude everything else. And so if it gives you some reassurance, I get that. I use the analogy of doing an MRI scan for back pain, you know, the, the, the years of debate that have been about this and the number of studies that have been done to show don't do it, everybody still does it, um,

Dr. Linda Bluestein: Right. It's a good analogy.

Dr. Alan Hakim: all about, you know, it's all about people, um, needing what they need, but, but, um, the vast majority of the time, um, the vast majority of people do not need that genetic testing.

Is that helpful?

Dr. Linda Bluestein: Yes. Yes. Very helpful. And I'm glad you brought up variants of uncertain significance. And I actually will be talking to our colleague, uh, Dr. Claire Frank Amano as, as well, um, in the, in the near future. So [00:38:00] we will dive into that a little bit deeper. But, but how do you handle those? Because it's, it is, it is tricky.

I've, I've had people like with an SOS type message, because maybe they decided to do direct to consumer testing or they did, they, uh, you know, had somebody else order it for them. And then, and then what happens is, you know, it, It, they look it up and they see that it's a variant of uncertain significance for Loeys-Dietz.

And then they look up the list of things for Loeys-Dietz well, of course, a lot of those things are very nonspecific and overlap with hypermobile EDS and other, and you know, uh, would be commons and other conditions, but they don't realize that those really, really specific things for Loeys-Dietz, like they don't have any of those.

So how do you handle the variants of uncertain significance? Cause that's a hard one.

Dr. Alan Hakim: Yeah, it is. Well, if it's any help to anybody, um, I go and talk to my clinical genetics colleagues, because, because although, you know, although it's a field that I'm familiar with, it's not my lane when it comes to, you know, really trying to work this out. Um, [00:39:00] so. I don't want to shout about, you know, elevate my expertise, but if I can't do it, I shouldn't expect anybody else to do it that's in this, you know, in my same peer group.

I shouldn't be expecting any general practitioners to do it. And, and no way should anybody in the community ever have to try and unravel all that for themselves because they'll find themselves in an absolute minefield, um, and unable to unravel it for themselves because it's complicated. And it's complicated for lots of different reasons, but the conversations that I have where the VUS is, let's say, for example, is sitting very close to one of the known pathological genes.

Well, first of all, you've got to know that it's sitting very close to one

Dr. Linda Bluestein: Right.

Dr. Alan Hakim: to be suspicious about it. And that, that requires. You know, a little bit of digging and understanding of the way in which ClinVar and OMIM and various other databases, you know, um, sort of, uh, present the data. You might even do literature searches and discover that there are similar variants that have been described in the literature, but maybe only one [00:40:00] or two cases.

That's, that's, um, uh, you know, quite, quite a lot of complex work for most people to work their head around and not fair that they should. And then, and then after that, you really have to start asking the question, okay, so this looks like it could be related. How many other people in the family have got this variance of unknown significance?

Do they have the same kind of clinical features that the, uh, that the patient has? Um, uh, are there any particular sort of tests, if you like, particularly of RNA, which is the next expression along from the DNA, that might tell you? Um, that, that this does lead to a pathological problem in the proteins moving further and further down the line.

Um, and this is very nicely described actually by, um, Francesca Malfe. She has a, she has a slide when she's talking about PUSs and there are about eight or nine different things that the clinical geneticists will do to, to, to try and work out whether [00:41:00] the pattern fits. So I give you an example of a family, Uh, where three members of the family, um, uh, one of the parents, uh, two of the children had exactly the same VUS, and one of the children was my patient.

Gosh, this looks like this family's got classical EDS, but, um, there were very soft signs of classical EDS in the patient. There were no signs, absolutely no signs of classical EDS in the, in the parent or in the sibling. One of the things that I was taught very, very early on from the clinical geneticists about VUS is, is if you've got the same VUS in another member of the family and they are absolutely well, or they have no signs of the disease that you're looking for, then it's unlikely to have, um, very much biological expression at all, or actually it's benign, because if it really was likely pathogenic or pathogenic, it would be being expressed in those other members of the family. So some [00:42:00] of our community might, some of our listeners might be aware that some of the laboratories will do additional testing on other members of the

Dr. Linda Bluestein: hmm. Mmm hmm.

Dr. Alan Hakim: but they typically specifically ask for people that have got the same kinds of clinical features, the same kinds of problems. Um, uh, it's actually really interesting to do tests on people who don't in the

Dr. Linda Bluestein: Correct. Right.

Dr. Alan Hakim: they're the ones that are going to give you the bigger clue.

Dr. Linda Bluestein: mmm.

Dr. Alan Hakim: So it's difficult. And of course, as we do more and more testing, um, more and more VUSs are going to come up. And one of the things that we've been talking about, and this is a, this is a conversation that's going on internationally across medicine, is how you collate those VUSs, all, all of that data.

to see what signals it starts to send about where we should be looking for, for pathological genes in general. Um, because they're primarily classified as VUSs because there's no literature on, on them being described as, as related to disease. It's, it's, it's a [00:43:00] difficult territory. Um, I have another, another patient who, um, uh, had, uh, the condition was originally described as, sorry, the gene was described as a VUS.

Um, But it was sitting so close, uh, to, to the actual pathological gene and the person basically has this disease, uh, and, uh, it's so obvious. And so it went through that round of, okay, well, what is that gene disorder? What is that particular VUS gene, um, doing? And ultimately it was determined through some quite complex laboratory work.

that it is pathological. And so it's been published, um, but you can't do that for all the BUSs and you don't need to do that for all the BUSs.

Dr. Linda Bluestein: Yeah. Wow. That's really, really interesting. So if somebody did do, say they have a genetic test result and they have a VUS and they're not really able to find a clinician to help them with that, um, you know, it's, I [00:44:00] guess any suggestions as to what,

what they can do. well, um, we haven't set this up yet and I use the word yet because you can't do everything, um, but, um, uh, I'm actually taking the conversation back to our medical and scientific board, um, at the Earl Daniels Society, uh, later. Um, in the year where we've been talking about VUSs and VUS libraries. So I think that there should be a service of some sort where people can bring, a clinician can bring the inquiry, um, and we can explore it.

Dr. Alan Hakim: We do, we do have a genetics and genomics, um, ECHO program. that we run with clinical geneticists. In fact, Claire Frank Armano is one of our facilitators. So, um, clinicians can bring, um, uh, their cases to us and we will look at them and, uh, uh, uh, and use all of the means that I was just describing broadly to, to determine whether this is likely to be an issue or not.

That's one mechanism, but it's only one, it, it, it, it's only one thing and it only happens once a quarter and it's, you know, it, it, you can't do everything. [00:45:00] Um, so I think trying to build out that those kinds of systems, um, or I suppose democratize the access to the experts, um, allow everybody to, to, to kind of sort of bring their inquiry to those experts is what I would like to see.

Because I, I, I don't think that, um, uh, that healthcare services have really got the, um, uh, the capacity to be able to, to deal with these questions and they're very specific questions for very specific patients and so first of all the patient will need to find um, uh, a clinician who's sensitive to this and then we would want the clinician to bring their, their question to this group, uh, and we would try and unravel it.

Dr. Linda Bluestein: And, and the ECHO program is so, so great. I mean, it's, it's moving knowledge, not patience, right? Is the

like tagline. So I think it's really such a fantastic program. I've learned a lot for sure. And, um, it's once you've gone through [00:46:00] the initial, I think it might be six week program. Then you have the monthly drop in sessions that you can come to for the regular ECHO program, not the, you Genomic genetics genomic one.

Um, so I, I think that's a great thing to bring up. And of course, um, your direct director of that program, right? So that's such a, a wonderful service for clinicians who want to learn more and really want to help this population specifically. Mm-Hmm?

Dr. Alan Hakim: No, absolutely. Well, thank you for plugging it. I, I, I kind of, I, I, I tucked it in there under genetics genomics, but there are, yeah, there are lots of programs. Um, and, and, and that open forum, uh, is something that, um, Claire, Frank and Marmando and I find really exciting and, and really refreshing because people come with anything and everything in terms of questions and concerns about their patients.

And, Where else can you be in a space where you've got multiple colleagues from a number of different disciplines? It truly is multidisciplinary. And, and kind of put this in front of everybody and say to everybody, what do you think [00:47:00] the o the o the other, um, uh, motto is All teach, all learn, uh, and, uh, I mean, well, you know, people sort of say to me, how, how, how, how'd you keep up with everything?

Well, it's easy. I, I sit in the room and I listen to everybody else and they tell me. Um, I do a bit of my own reading as well. But, um, you know, um, it, uh, it uh, it, it really is an environment where everybody gets to learn about what's going on everywhere.

Dr. Linda Bluestein: Mm-Hmm.

Dr. Alan Hakim: So, um, more of that, you know, we want to build all of that out. We're hoping to build that out in more of a bespoke way for, to cover the needs for primary community care, to cover the needs for emergency room care. Uh, we want to expand it into social care, and we want to expand it into, into dentistry. Um, this is, so we've been doing this for five years now, and I think we've got the model right.

Um, we've validated, uh, you know, what we do. I think people feel safe in that environment and trust and, and trust that environment, which is really, [00:48:00] really important. Uh, now, the next five to ten years is expanded out and just see if we just capture more and more people. Not just making them aware so that their knowledge and their confidence is improved, but actually then giving them that, that, um, framework to come back and talk to anybody and everybody in our network.

and engage across, across the boundaries internationally and all the barriers that understandably, you know, sit between institutions and regions and countries. None of that matters, um, in the way in which we do the work.

Dr. Linda Bluestein: Yeah, I think that's, uh, I was thinking about the all teach, all learn. And it really is, that is really is the way that the sessions are run. So I think that really is fantastic. And of course we know that there are lots of barriers to people getting better care. And we know that, I mean, even for acute problems, health care has its, flaws for sure.

We're living in some pretty challenging times and for chronic [00:49:00] complicated conditions like the Ehlers-Danlos syndromes, it's even so much harder. Besides the ECHO program, other thoughts in terms of how to overcome some of those other barriers, how to educate other physicians, um, thoughts about that. Mm

Dr. Alan Hakim: No, absolutely. So, um, uh, uh, I think you can take some of the, the traditional models that have, uh, that have been used over time and maybe rework them slightly. So some of the conversations I've been having more recently are, let's stop writing reviews and expect the world to read them. Um, because, uh, they're, they're, you know, they're, they're, they're important in themselves.

They give some structure, but actually. Not a lot of people read this stuff, , you and I might, uh, and, and, and other listeners will. But, but that makes us an unusual breed. You know, everybody else is busy, uh, in a much, much bigger world, um, dealing with all sorts of, uh, uh, of disorders with, um, you know, with, with, um, uh, significant issues in terms of resources and capacity and everything else that they're just not gonna tune it.

[00:50:00] So, so how, so how do you do this? One of the things that we're thinking about now is rather than focusing all of our attention on our primary conferences, is how do we get out to all of the other

Dr. Linda Bluestein: Right.

Dr. Alan Hakim: How do we get into, not just with posters and things, but how do we get into plenary sessions?

How do we get into teaching sessions everywhere? So, the paediatric conferences, the GI conferences, the pain conferences, and of course, we are now in a position to do that. It's taken us about two or three years, but we're now in a position with the International Consortium, uh, with the ECHO Professionals Database, with our, um, uh, Clinician's Directory, and anybody else, quite frankly, who wants to join, um, to utilize all of that expertise from all of those different clinicians in their own disciplines and say, okay, You know, if you're going, which conferences should we go to?

What materials do we need to give you? How, how can we help you, uh, basically spread the word and spread the love? Um, uh, so that people come back to us as the [00:51:00] core, uh, to all, all of the different materials that they'll find on our website. Not just on the EDS, on the Earlist Analyst Society website, but everywhere else, you know, your amazing work.

And just be more familiar that it's out there and reach out to it and trust it because it's, you know, it's been provided to them by informed people that they trust. So that's one major mechanism. But in essence, I think what we're talking about is is knowledge mobilization. So as we produce new, new information and we become more aware, we're thinking about how we might, um, uh, define, refine, um, pathways for diagnosis, et cetera, we're going to have to do a lot of work about how we disseminate that knowledge.

We can't just put it out there and expect the world to, to suddenly pick it up. Um, and, um, it requires little armies of people all over the world, uh, to act as those catalysts to spread that. And you see [00:52:00] that, you know, I've got a group of amazing rheumatologists in the UK who go out and teach all about all of this all the time, just trying to just just trying to sort of, you know, expand, expand that knowledge.

We just have to facilitate more of that as much as we can. Masterclasses have proved to be really, really helpful. Particularly amongst our allied health professionals, there's a master class that's been developed in the UK that's been to multiple sites around the UK to, to support therapists in developing their understanding and their clinical practice.

There's another big one that's about to start. in the USA, um, which we're really excited about because it's just, it draws in that everybody gives them the skills that they need. Um, and then there's a big international conference that, uh, of, of allied health professionals that we're facilitating to get that, to get as many people as possible to realize the opportunities that are [00:53:00] coming in, in research.

to draw in new people, uh, um, that might be in that world that might also be clinical practitioners. So there's, there's a little potpourri, if you like, of, of, of lots of things. It might sound a little bit chaotic, but actually if you asked me to line them all up, I'd put them all, I'd put all the right shapes in the right boxes.

Dr. Linda Bluestein: Mm hmm, mm

Dr. Alan Hakim: Um, and, and, you know, I think, I think Yeah, it all sits under the auspices of this science, if you like, of knowledge mobilization. There are multiple different ways in which you, in which you do this. I think the other, the other, the other key area for us is not so much, um, uh, trying to go to governments and other organizations for policy change, but actually trying to, um, to work much more closely with, with, um, those governing bodies that, that make the real changes.

So things like the FDA,

Dr. Linda Bluestein: mm

Dr. Alan Hakim: We had a meeting with the FDA in November last year. Um, they were really interested in where we were in terms of, um, uh, the [00:54:00] science that's coming to the fore in, in, in EDS, uh, particularly in hypermobile EDS, and said, we want to be with you at the beginning of that journey so that we're prepped and ready to help you, you know, when, when, when it needs to go wider.

Don't, don't come to us when it's already done hmm, to catch up. Let us go with you. So making sure that we're in those conversations early, um, and, uh, utilizing all of those resources, think, think, all the different mechanisms that, that different groups have to spread the word, you know, more widely than you could ever reach.

That's, that's the mechanisms we have to put in place.

Dr. Linda Bluestein: Yeah, yeah, no, that makes a lot of sense. And I think that your point about, uh, being at other conferences is so important. I've spoken at some, you know, small programs and, um, I was invited, have been invited to speak at a conference. Sexual Medicine Conference, um, you know, which is great. I'm super excited about that.

That's, that's coming up this, uh, this winter. So, so I think those [00:55:00] kinds of things are, are so, so important because I think a lot of, uh, a lot of patients would love for, well, it'd be great to have more, So, um, I'm not going to talk about, you know, how many clinicians taking the full ECHO program, but like you said, people are busy.

I mean, there, there are often, you know, I'm not raising children anymore, but you know, a lot of people are. And so they, they're, you know, they have a full time practice, they're raising children. They're, you know, they are so, so busy. So they might go to, you know, like in my space, the ASA conference. And if there's, And if there's a talk at the ASA conference on EDS and implications in terms of positioning and airway management and all of that kind of thing, that would be such a better way for people to get at least some information.

Yeah.

Dr. Alan Hakim: You know, I think that you've hit the nail on the head. It's that, it's that, what are the key things that you are, that you are dealing with as a clinician? You don't need to know everything that there is to know about EDS, but what brings you into our territory? So, you know, you say, I'm going to go and give a talk at a sexual medicine or [00:56:00] sexual health conference.

Well, To me, with my knowledge of everything that goes on in EDS, that makes complete sense. But there would be a lot of people that go, why? How does that fit? You know, there'll be a lot of people at that conference will go, why is she here?

Dr. Linda Bluestein: Right.

Dr. Alan Hakim: And then when they hear you, and they hear all the issues that, you know, that relate to good sexual health, they'll go, Oh, gosh, okay, now I get it.

And that's exactly what we want. People don't know what they don't know.

Dr. Linda Bluestein: Right. Yeah. Absolutely. In terms of patients advocating for themselves, do you have certain tips to share for that?

Dr. Alan Hakim: Oh, I always borrow all the really clever ones from all of our patient experts at the conferences. This comes up all the time.

Dr. Linda Bluestein: Mm hmm.

Dr. Alan Hakim: so I think, I think, um. advocating for yourself, uh, in the context of maybe being with a clinician who may not know EDS.

Dr. Linda Bluestein: Mm hmm.

Dr. Alan Hakim: I do, I do think it's important for you to have, um, [00:57:00] a small amount of documentation that kind of outlines, uh, your condition and how it's affecting you and maybe who your clinicians are.

Uh, what your current medications are, um, uh, uh, what you've tried before in, in, in all treatments, not just medicines that, that hasn't or has, has or hasn't necessarily worked very well. Um, but you can't come with a big folder. I mean, I, I've, I've had a couple of people sort of come in the room and they've just got these two big ring binders.

It's like, I can cope with that because I think I know what's going to be in there. But, you know, you do that to, to a novice and it'll just frighten the living daylights out of them. So. It's trying to find that balance in having some headline summaries about things, but then also, um, realizing that, um, you can't get through everything all at the same time, or all in the one sitting, um, that you probably, you probably need to be spending some time, uh, Introducing the main issues and then, and then kind of working through it, it's, it's immensely difficult for people who've got, [00:58:00] who've got any complex health disorder.

Um, the, the, the, the only thing that I would say, um, uh, quite frankly, is if at the end of that first consultation, um, you have a sense, or, or it's absolutely clear that the person just doesn't believe you. and not just doesn't know but isn't willing to find somebody who might be able to help, then get out.

It's just, it's not, because you're, you know, I've seen too many people get, um, then get caught in a system that's actually not looking after them, that's actually not reviewing their cases, not protecting them. It's doing the opposite. Um, and not to be afraid to do that. Um, uh, but it's a fine balance because first and foremost, you kind of want to let your clinician have a chance because for, you know, for a lot of people, it really does sound like it's really quite tricky.

But if you boil it down to one or two things in the first instance, you give them, you give them that chance to be able to work out how to help.

Dr. Linda Bluestein: . Yeah. No, I think that I've had people say, [00:59:00] I'm going to get a different PCP and I, and I asked them or, you know, here we use that term for a primary care physician and I, and I asked them why or what, you know, what's your concern? Not to, not to argue with them, but just, you know, so that I understand and sometimes some of the things that they'll express, it's like, okay, well, they don't know a lot about EDS.

Yeah. Yeah. But, you know, if they are curious and empathetic and they want to learn, then rather than bouncing around and keep going from person to person to person, you know, sometimes it's worth kind of sticking it out a little bit more and making sure, um, I, I agree with your assessment if they seem like they really are just not interested, but sometimes I think people might leave prematurely, um,

Dr. Alan Hakim: Yeah, I think, I think that's, I think that's right. So if you go back to those fundamental principles, if you've got somebody who you can talk to that you don't feel anxious in front of, you might feel a bit frustrated with them, but you don't feel anxious in front of them because of the way they're, they may be related to you.

There are instant, [01:00:00] there are episodes where you can see relatability, where there is empathy. Um, you've got somebody in front of you who, who, who cares but doesn't know, um, uh, which way to necessarily go with this particular problem. Those, those are the seeds of of good, of great healthcare. The knowledge comes next. Um, you know, it's almost like the opposite where you get somebody who's incredibly knowledgeable, but boy, are they just not a nice person. It's like, well, okay, I'll get what I can and then I'll leave. Um, you know, if you've got, particularly I would say in primary care, um, you know, where those, those, those skills, those assets are really, really important because they're the foundations From which you then decide, well, where am I going to go to see if I can help?

Um, then stick with it, because what you can then do in that situation is go, Well, Dr. So and so, You know, I've been doing a little bit of reading and I've realised that this particular therapist or this particular doctor actually, actually might be able to help us. Pluralize [01:01:00] it, socialize it within the context of your relationship.

Um, you know, um, would you, uh, would, would, can you, first of all, and then would you, uh, refer me? And I say can you because, uh, a lot of the time, um, you know, systems don't make it that easy. Um, you know. So, yeah. Can you or, or, or would you, um, He did. uh, onto this particular person to see what they think and see if they can help us? So, so you, you know, you can go back to your, uh, your doctor and, uh, uh, and ask him, can you, um. Help me. Um, and I think can is an important question because there are systems in place that that act as barriers. Quite frankly, um, there may be only, you know, local referral policies. There may be other other issues.

Uh, further field, even even the sort of more specialist organizations require some local context before they will take a patient on. So, so. There's, there's, there's lots of those kind of logistics, if you like, but, but, um, if you've [01:02:00] identified somebody who you think might be able to help, help both you and your doctor, um, uh, then just introduce that.

Uh, I've had a lot of patients come my way where, uh, the, um, The healthcare professional, because I receive referrals from anybody and everybody in healthcare, have just sort of said, you know, these are the symptoms, these are the concerns. I haven't got a, I'm summarizing, I haven't got a clue what's going on here, but Um, having listened to my patient, um, and, you know, their suggestions that they come and see you, can you help?

You know, well, that's fine. That's why we're all here, right? I don't know if I can or I can't, but let's have a look. Um, and I, I actually much prefer that, uh, uh, that, that kind of approach, because It doesn't, it then, coming back to that, you know, idea of having a fixed or affirmed diagnosis. It takes an approach which is much more along the [01:03:00] lines of, well, this is the problem.

So can we unravel the problem? If we can give it a diagnosis, we give it a diagnosis. If we can't, we Nevertheless, how, how, how do we treat, how do we manage, what do we need to do? Um, and, uh, uh, uh, uh, you know, take the, take that sort of route. I think the other, the other piece of, of, of, of, of guidance, uh, that I have for both clinicians, uh, and patients is that given the, uh, the complexity of, of, of, of, um, some individual's concerns, there's.

It's not a risk, it's a fact. Uh, they go off to 10, 20 different clinicians, and they basically spend their life, uh, routing around, you know, different appointments and different tests and everything else. And I don't think that that's healthy. Um, I don't think it's healthy for anybody. I can't keep up when I'm, when I'm the person that's trying to collate everything that's going on.

It's like, where are you now? Um, but, um, I, you know, I think it's important to try and identify maybe two or three of the key things that might be the main, they may actually be the primary [01:04:00] problems that are driving lots of other things. If you can get to the bottom of those problems, a lot of the other stuff might dissipate somewhat.

Um, but actually if you take each individual one and you go, okay, I'm going to do those tests and go to that place and those tests and go to that place, it becomes a, a, a really messy journey that I think is very, very important. Probably quite difficult for most people to cope with.

Dr. Linda Bluestein: Yeah, I'm so glad you brought that up because I have seen patients where they, they will have seen someone else just a few days earlier and they're going to see someone else the a day or two later. And, and not only are they going to get conflicting recommendations often, because these aren't necessarily different specialties or addressing different problems, they're addressing often the same set of problems.

And then they're not necessarily giving time for that treatment plan to work. So I usually tell them, why don't you decide whose treatment plan you feel is a best fit for you, and then stick with that one treatment plan. Yeah.

Dr. Alan Hakim: Right. Yeah. Yeah, I kind of have a general rule of thumb of three [01:05:00] months. If things aren't better after three months of a treatment, um, to some degree, to a degree that you're satisfied with, then either, if it hasn't made any difference at all, then we're just in the wrong territory. If it's made some difference, then we just need to be exploring how we expand or develop, refine that treatment.

Um, but, um, uh, if it hasn't made any difference after a couple of weeks, please don't go looking for you know, somewhere, something else somewhere else. It just becomes very confusing. And sometimes I've found, um, particularly with those individuals that come with the big folders, is that, is that actually when you look through, that's kind of what's happened.

So there are multiple engagements with multiple different healthcare professionals, with multiple ideas about things, all well and good, but actually none of them have been actually properly taken through, uh, um, their process to whether they would have made any difference or not. Um, and And so that makes it very, very tricky to know whether you should go back to some of [01:06:00] those or whether they are redundant because they didn't really work.

So, ultimately, uh, if you, if you look at a, uh, uh, you know, look forward to what is, what does it look like next year or the year after, sometimes you have made no progress because you haven't allowed progress to be made. Um, uh, and, and, uh, and we have to sort of backtrack and sort of start from scratch.

Dr. Linda Bluestein: Mm hmm. Yeah. Yeah. Okay. So, uh, we are running to the, we're not running out of questions, but we are running to the, to the end of our time. And so, no, no, no, no,

Dr. Alan Hakim: who knows me knows I talk too much.

Dr. Linda Bluestein: no, no, no, no, no. You definitely do not talk too much, but I, I, I, I'm taking about half of the questions that I wanted to ask and I'm going to defer them to the next conversation because there's so much to talk about.

And look,

Dr. Alan Hakim: very happy to come back.

Dr. Linda Bluestein: Okay, that would be amazing because there's, there's entire sections that I wanted to cover and, and probably some people are listening to this and thinking, wait, I submitted such X, Y, Z question and she didn't ask it. So I, [01:07:00] trust me, I got your questions. I, the, the list of questions is now, you know, like 180 or something like that.

Not just for you, but, but, but don't worry. Not that, you know, but, but overall, so, okay. So, but I like to end every episode with, um, a hypermobility hack or, you know, it could be more than one hack. I'm sure you have. I'm sure you have hundreds if not thousands of hacks, um, but if you do have one or two that you could share with us.

Dr. Alan Hakim: So, so the first thing, so you put this question to me in the form that I had to fill out, and I have to confess that I might just be a little bit old and don't understand. Do you mean tip? Oh, what do you

Dr. Linda Bluestein: Yes. I'm sorry. Yes. Tip?

Dr. Alan Hakim: No, no, that's fine. Well, no, I shouldn't be ageist. I'm not showing my age. I'm showing my ignorance.

Dr. Linda Bluestein: Like a quick, like a quick win.

Dr. Alan Hakim: A quick win. Um, a quick win. Okay. I'm not sure that this is, I'm not sure that this is a quick win, but what I would say is, um, um, make sure that you keep as active as you can keep, as you can, um, [01:08:00] because losing activity doesn't matter what your, uh, what your age or your disease is, uh, you'll become more frail.

And with frailty comes moral health. So, keep as active as you can. Now, I'm going to share with you all for the first time ever, that I think I probably have hypermobility spectrum disorder. I'm hypermobile at the knees, and there are all sorts of strange things that go on in my sacroiliac joints. And when I was 19, Um, uh, I went to see a rheumatologist because I had sacroiliac pain.

Couldn't, you couldn't find anything. X rays were normal. I didn't have one of the inflammatory disorders, um, uh, like ankylosing spondylitis. And, uh, for years I ran into trouble with what I think is probably soft tissue, uh, prolapsing at the sacroiliac joint. Anyway, I found a set of exercises and the whole thing went away.

And if I don't do those exercises, it comes back.

Dr. Linda Bluestein: Wow.

Dr. Alan Hakim: Tip. When you've found your exercise, [01:09:00] keep at it. And, and, and, you know, and, and, and, you know, and, and, and if it, if it starts to fare up, just sense check with yourself. Have I stopped my exercises?

Dr. Linda Bluestein: Yeah. That's first of all. First of all, that's a great. Tip. Totally agree. And I can think of my own historical things and, you know, whether you, uh, get some other illness or something else happens and you're have, you're less active. And yeah, definitely finding the right place to, to start and get back to a level of activity that's gonna be good for your body.

But yeah, and, and also thank you so much for sharing that with me because, um, you know, I've always wondered about about that because it seems like most people that are, that are. As passionate as you are and have dedicated the incredible amount of time that you have, have some kind of connection besides, you know, the fact that you're a physician and, and you started doing research on this long, long, long ago.

That sounds terrible. That sounds terrible. That's [01:10:00] that sounds terrible.

Dr. Alan Hakim: But yes.

Dr. Linda Bluestein: But, but, but I, but I emailed you, I emailed you in 2016 because I was like, your name kept coming up over and over again, like on all these papers. So not boring at all. And you, and you were so gracious when I, when I emailed you and I shared the paper that I was working on and I said, I know you're super busy, but if you are, you know, if you're able to take a peek at this and you wrote back to me and I was like, wow, that's amazing.

So.

Dr. Alan Hakim: Yeah, I should say I'm self diagnosed. Nobody's ever actually diagnosed me. So it's just, you know, you know, when you work in the arena, you kind of figure, well, you know, um, as has been quoted of me, it looks like a duck, it quacks like a duck, it's a duck. But yes, I've had the pleasure of working in this field for 25 years now.

Um, Uh, initially trained as a rheumatologist and then got more into soft tissue rheumatology and it, and, and bless him, it was, it was [01:11:00] Rodney Graham who came and tapped me on the shoulder when I was in the middle of my, uh, my research before becoming a consultant, um, who said, hmm, have you ever thought about linking all of the soft tissue injury research that you're doing to hypermobility?

And there was no, there was no model or methodology to do it. And yet, interestingly, when you look at soft tissue injury biology at the time, there was a model suggesting that there were the, there were these genetic influences, and they might be related to hypermobility. So we did the work, and the rest is history.

Dr. Linda Bluestein: Wow, that's that's amazing. Just incredible. Yeah. Well, I I want to say thank you so much for the I mean, truly there's, there's spaces where, you know, there's a lot of people that have made contributions. And of course there are a lot of people that have made contributions in this space, but, but the work that you have done is absolutely, absolutely outstanding.

And you know, I, I'm so grateful to you because without what you've done, then, you know, all the rest of us that have kind of come later and tried [01:12:00] to, you know, make some kind of a contribution, we wouldn't be able to do what we've been able to do. So

Dr. Alan Hakim: Well, thank you very much for that, Linda and I, I, I just see it as a, a cornerstone from which we're gonna do a huge amount more over the next five, 10 years. I think the next five years are gonna be really exciting as, as a lot of the, the, uh, biology unfolds in front of us, particularly around HEDS and the extracellular matrix.

Let's watch this space. Uh, I think, um. Uh, yeah, I'm very excited about this and it's reminiscent of, um, more than 25 years ago when we were looking at the introduction of biologics for the use in autoimmune rheumatic diseases, when the science had suddenly unfolded and then began to literally, you know, sort of fall out in front of us.

Uh, and you look back now and there are, you know, dozens and dozens of treatments and much greater understanding of these conditions, uh, in, in that part of my world. And I can see it. Just, I can see glimmers of it just starting to happen because of the opportunities that we've had over the last five, six years in particular with some, with some [01:13:00] significant refunding, or not even refunding, funding into the field, uh, to, uh, to start to do this work.

It's, it's, it's very exciting and, um, uh, uh, yeah, we're just continuing to do as much as we possibly can to support our community,

Dr. Linda Bluestein: And before we go, where can people find you?

Dr. Alan Hakim: um, everywhere. You mean in my clinical, you mean in my clinical practice?

Dr. Linda Bluestein: In your clinical practice, online, um, if they want to read more of your work. Yeah. Yes,

Dr. Alan Hakim: and unfortunately a very long list comes up. But it's, it's, it's all there. You know, I've got reviews, papers, website pages, books. There's, there's lots, lots of information everywhere in that regard. Um, uh, they can find me at Stanlaw Society.

I'm, I'm readily, readily available there. Um, if they can't find my [01:14:00] email address at the Earl's Dental Society, then they can go through the inquiry line or the help line, or if they're interested in ECHO, through the ECHO line, or research through the research line. There is everything, all roads lead back to me because I'm the chief, I'm the chief medical officer and the director of research and the director for ECHO.

So they say, not all roads, most roads lead back to me that way. Um, so that, that, that's, that's the way to find me. In terms, in terms of the way in which I engage clinically. Um, the, the, the main, um, opportunities that I have now is really through all of this international networking that I was describing, particularly under ECHO.

People contact me, uh, uh, through ECHO, uh, and ask all sorts of questions, uh, and I give them guidance. Uh, I don't really do it in that traditional, um, um, uh, clinic, uh, environment, uh, anymore. Um, uh, because I find, um, that actually there are barriers to that and I can be of more value by, um, You know, supporting clinicians with, with just general inquiries and people do that all the time.

I get two [01:15:00] or three a day. I just, I just, you could call it pro bono, but I just see it as part of the job I do for the society. Um, and, um, if I can help, I will.

Dr. Linda Bluestein: That's amazing. That is really, really great. And is there a different website for that or to, you know, to reach you that way

Dr. Alan Hakim: Uh, no, through, no, through the Earl's Download Society. Yep, yep. People, uh, connect, connect that way with me. Yep.

Dr. Linda Bluestein: Okay, fantastic. Well, thank you so, so much for this great conversation. Um, I know the listeners are really, really going to, to love hearing all of this from you.

And I just really, really appreciate you taking the time. I know you're so busy with, uh, all the different hats that you're wearing. So I'm just so grateful.

Dr. Alan Hakim: No, absolutely. Thank you so much. I apologize it's taken so long, but please do invite me back and it won't take so many months for me to say yes.

Dr. Linda Bluestein: Sounds good. I am, I am patient and persistent. Uh, so, but, but, but, but yes, doing it sooner rather than later would be, would be [01:16:00] terrific. So, well, thank you again.

Dr. Alan Hakim: Thank you very much. Take care.

Dr. Linda Bluestein: You too.

Wow. That was such a great conversation with Dr. Hakim and he's such a wealth of knowledge and such a wonderful person. an incredible expert in this space, so I hope you enjoyed that as much as I did.

And thank you so very much for listening to the Bendy Bodies podcast and helping spread the word about these complex conditions. You can find me, Dr. Linda Bluestein, on Instagram, Facebook, TikTok, Twitter, and LinkedIn at hypermobilitymd. You can find human content by producing team at human content pods on TikTok and Instagram.

If you would like to dig deeper and would like to have a one on one session with me, you can go to hypermobilitymd. com for more information. You can also find full video episodes up every week on YouTube at Bendy Bodies Podcast. To learn more about the Bendy Bodies program disclaimer and ethics policy, submission verification and licensing terms, and HIPAA release terms, or to reach out with any questions, please visit bendybodiespodcast.[01:17:00] 

com. Bendy Bodies Podcast is a human content production. Thank you so much for being a part of our community and we'll catch you next time on the Bendy Bodies Podcast.