What you need to know about Ehlers-Danlos syndrome patients [PODCAST]

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“The symptoms of EDS aren’t limited to the musculoskeletal system and commonly affect everything from hearing and vision to integumentary issues such as prolonged wound healing and easy bruising. It also became apparent that the specialists I had seen had contributed valuable information to the overall puzzle but were simply not able to put it all together. I had accrued an impressive list of diagnoses commonly associated with EDS: migraine, gum disease, anxiety, fibromyalgia, chronic fatigue, restless leg syndrome, sleep disorder, lumbar spondylolisthesis, sacroiliac dysfunction, hiatal hernia, hearing loss, and early-onset osteoarthritis. EDS explained everything right down to the bumps on the sides of my heels called piezogenic papules and my velvety soft, delicate skin. One physician explained how she makes sense of this constellation of multi-system symptoms by using the phrase: ‘If you can’t connect the issues, think of connective tissues.’ Finally, it all made sense.”

Julie Griffis is a physical therapist. Linda Bluestein is an integrative medicine physician.

They share their stories and discuss this KevinMD article, “The difficult to diagnose comorbidity that plagues Ehlers-Danlos syndrome patients.”

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Hosted by Kevin Pho, MD, The Podcast by KevinMD shares the stories of the many who intersect with our health care system but are rarely heard from.

Transcript

Kevin Pho: Hi, and welcome to the show, where we share the stories of the many who intersect with our health care system but are rarely heard from. My name is Kevin Pho, founder and editor of KevinMD. Today on the show, we have Julie Griffis and Linda Bluestein. Julie is a physical therapist, Linda is an integrative medicine physician, and together they co-wrote the KevinMD article “The difficult to diagnose comorbidity that plagues Ehlers-Danlos syndrome patients.” Julie and Linda, welcome to the show.

Julie Griffis: Thank you.

Linda Bluestein: Thank you.

Kevin Pho: So I’m going to ask each of you about your story and journey to where you are today. Julie, why don’t we start with you?

Julie Griffis: Yeah, thank you so much for having us on. This topic is certainly very personal for both of us. We’ve both struggled with being diagnosed and with having years and years of unexplained health issues. So for me, this is really my way of being able to give back to the community, to give back to the medical field, to tell my story, and to help others. So that’s really where we are today.

Kevin Pho: Excellent. And certainly we’ll talk about that article in a little bit, but what would you say, over your journey with EDS, are some of your biggest challenges?

Julie Griffis: I would say being diagnosed was one of my big challenges. I had symptoms for many, many years that doctors simply couldn’t explain the cause of. So I suffered with debilitating symptoms and was told so many times that there was nothing wrong with me, that it was all in my head, that I just needed to suck it up and deal with it. But I knew deep down that there was something just not right. So when I finally got my diagnosis, it was really an opportunity to understand how my body works differently than others’ and then be able to give my body what it needs.

So the biggest struggle, I would say, was just the lack of education and awareness in the medical community, and among other people, to even understand that this disease is so pervasive and so debilitating.

Kevin Pho: And Julie, what were some of your initial symptoms that led to that diagnosis?

Julie Griffis: Sure. The biggest thing that hit me when I was fairly young, in my 20s, was debilitating migraines, where I would lose vision and lose hearing. I had been worked up for MS many, many times, I’ll say, all to come back negative. Then, following the migraines, I had just severe, unrelenting fatigue. I would come home from work and have to lie on the floor for a half hour before I could even make dinner, and it just wasn’t right. I was in my 20s. Most people in their 20s are out with friends, living a very active lifestyle, and I was exhausted, having debilitating migraines.

And then the pain set in. It would take me an hour to get out of bed in the morning because I was in so much pain, and again, no doctors could really figure out why. I just kind of lived in that state for most of my adult life.

Kevin Pho: So I’m looking forward to hearing more of your story when you talk about your article, but first, Linda, why don’t you share your story and journey to where you are today?

Linda Bluestein: Sure. I also have hypermobile Ehlers-Danlos syndrome, and like so many of us, I went for many, many years with symptoms without a diagnosis and really struggled with trying to figure out for myself what was going on and why. For me, the primary thing was pain, which also started in my teens, actually, when I was a ballet dancer, and it led to the early termination of my career as a ballet dancer. So I struggled to get a diagnosis. I remember telling my internal medicine doctor, “I know something is wrong with me. I get injured so easily. Things just don’t seem to heal as quickly as they should.” And I didn’t understand either why I was having all these problems for many, many years.

Kevin Pho: And I understand, Linda, that you have a practice focused on Ehlers-Danlos. Tell us about that practice.

Linda Bluestein: Right. So like a lot of us, I kind of fell into that accidentally. I am an anesthesiologist, and I’m traditionally trained. I did my residency at the Mayo Clinic, very traditionally trained, and I had multiple health challenges that led to my inability to do my career at a relatively early age. So in trying to figure out how to utilize all this education that I have gained along the way, I did so much reading and research in order to alleviate my own symptoms, and I felt like I really needed to use that to help other people. So I ended up opening a practice, and that was not that long ago, actually. But it’s been going really well. There are so many people who have the need.

Kevin Pho: All right, so I’m interested in exploring more about that practice in a little bit, but first, let’s talk about the article that you co-wrote. It’s titled “The difficult to diagnose comorbidity that plagues Ehlers-Danlos syndrome patients.” Now, Julie, for those who didn’t get a chance to read that article, can you just walk my audience through it and share the story of why you decided to write it?

Julie Griffis: I was incredibly grateful to have seen Dr. Bluestein’s post looking for a collaborative effort to write this article. And again, it really came down to awareness and understanding how these comorbidities and this disease process of Ehlers-Danlos work. Dysautonomia is also something that I thought was really prevalent right now with the COVID-19 pandemic, with a lot of the long haulers. People who are experiencing symptoms long past the acute infection are suffering with this dysautonomia, so just their autonomic nervous system not being able to regulate itself. And it’s extremely debilitating when your body can’t regulate your normal, everyday functions.

So that’s why I chose that angle. I also thought it was timely and relevant, but also incredibly important to spread the word about how this affects patients who have dysautonomia alongside EDS.

Kevin Pho: And Julie, how might dysautonomia manifest in patients, and what kind of symptoms would they present with?

Julie Griffis: The most prevalent symptoms tend to be those around orthostatic regulation, so a lot of lightheadedness, dizziness, kind of feeling like you want to crawl out of your own skin, being uncomfortable. So they’re pretty vague symptoms that are also multisystem and multifaceted, so it’s hard to pin them down in relation to certain bodily systems. Those are the most common ones.

Kevin Pho: And Julie, how long did it take from the start of your symptoms to the ultimate diagnosis of EDS?

Julie Griffis: For me, it was over 20 years, unfortunately. My migraines started in college and progressively got worse when I graduated college, and that was really the first symptom of neurologic disorder that presented itself for me.

Kevin Pho: And give us a sense of how many doctors you saw in between. How many medical institutions did you go to before coming down with an ultimate diagnosis?

Julie Griffis: I know exactly. Honestly, I have seen specialists from Vermont, and I lived in Arizona for a while, so I even saw specialists on the West Coast, in Arizona. I’ve seen neurologists, I’ve seen cardiologists, I’ve seen internists, functional medicine, and naturopaths. Honestly, I would say countless. I’m constantly searching, or had been searching, for anyone who could kind of put these pieces together and figure out this puzzle.

Kevin Pho: And Linda, from the clinician standpoint, why is EDS so difficult to diagnose?

Linda Bluestein: I think there are a couple of reasons. One is because in medical school, we’re taught that it’s a rare disorder, and we now know that there are many different subtypes. So depending on the subtype that you’re talking about, and the nosology has changed fairly recently, we really don’t know the true prevalence. If you consider the entire spectrum of hypermobility disorders, or hypermobility-related symptoms and conditions, there are actually some that are quite prevalent. So there are some types of EDS, take the kyphoscoliotic type, for example, that are super rare, but then there are other types, like the hypermobile type, that are actually quite common.

And interestingly, for me personally, I saw many physicians along the way who would comment on things. For example, prior to my ulnar nerve submuscular transposition surgery, my orthopedic surgeon at the Mayo Clinic said, “Oh, you have incredible elbow hyperextension. You will lose that after the surgery,” but never said anything about what that may or may not mean, and at that time, I didn’t know either. My shoulders, it turns out, were incredibly hypermobile, and that had been commented on. I was diagnosed with multidirectional shoulder instability, but nobody ever put everything together and said, “Oh, this is what this might mean,” including me. I didn’t put it together either.

So that’s one of the challenges, I think. People see us at different snippets in time, and they don’t necessarily realize that we are having these problems in different parts of our body. We don’t know what other people’s bodies feel like, so we don’t know that it’s not normal to dislocate a shoulder when you are taking your clothing off. So I think it’s a multifactorial thing. I think awareness has really grown a lot in the last five or so years, so I really think that the future is very bright. I think that care will really be improving, especially if people are open-minded and realize how likely they are to see these patients in their practice.

Kevin Pho: And Linda, can you give us some case studies and scenarios of symptoms and presentations that we in primary care should look out for that may raise a flag of potential EDS?

Linda Bluestein: I should count how many words this actually is, but there’s a saying: “If you can’t connect the issues, think connective tissues.” That’s like eight or so words, I think. But that’s a really succinct way to think about it. Someone comes in and they have pain in a few different joints, or they may have pain and some of these symptoms like Julie was describing. I also had been diagnosed with autonomic dysfunction, but nobody, again, including myself, connected that to my joint pain until many, many years later.

So when a person is presenting with things that are difficult to resolve, and/or in different parts of the body, and they’re polysymptomatic, and you’re really struggling to get to the bottom of it, it might be good to investigate: Are they hypermobile, or were they in the past, and is this possibly a contributing factor toward their symptoms?

Kevin Pho: And Linda, if you have a suspicion of potential EDS, what will the next diagnostic steps be?

Linda Bluestein: Unfortunately, the hypermobile type does not have a genetic marker, so I do not do genetic testing in most of my patients. I do sometimes send them for genetic testing, but not usually. So usually what I focus on are things that are modifiable risk factors for worsening symptoms. For example, I try to optimize vitamin D levels, and I look to make sure they’re not also anemic, or something that would be contributing to their fatigue. I do kind of the standard labs, like a CMP, CBC, vitamin D, inflammatory markers, some of those kinds of things.

And then I work on treating their inflammation, even if their inflammatory markers are not elevated. Oftentimes, people like us have neuroinflammation, so that might be contributing to sensitization of our nervous system. And although we can’t necessarily prove that by diagnostic studies, if we execute those therapeutic treatment protocols, we can see an improvement in symptoms.

Kevin Pho: We’re talking to Julie Griffis and Linda Bluestein. Julie is a physical therapist, Linda is an integrative medicine physician, and together they co-wrote the KevinMD article “The difficult to diagnose comorbidity that plagues Ehlers-Danlos syndrome patients.” So Julie, now that you had the diagnosis of EDS after 20 years of symptoms, tell me your story of what happened next.

Julie Griffis: What happened next is I dove into educating myself about this condition and the best ways to manage it. One thing that I had been told by countless doctors after my diagnosis of fibromyalgia was to get really heavily into yoga. I love yoga; however, I wasn’t aware at the time that it was actually continuing to strain my joints, and my connective tissue was just never recovering from the overstretching that I was doing. I wasn’t doing it safely for the way my body needed it. So I stopped doing yoga, and surprisingly, I have been in a lot less pain. So basic lifestyle and joint preservation measures, like sleeping in a more supported position and focusing on core stability and joint stability in a gentle, more isometric strengthening fashion, have really significantly improved my pain.

And the other thing that I’ve been able to do is identify that I have some of these comorbidities, like POTS, or postural orthostatic tachycardia syndrome, and MCAS, which is mast cell activation syndrome. So I’ve been able to take measures on my own to manage those conditions, like wearing compression stockings to help with the standing and help my heart rate with that, and also starting to eat a low-histamine diet to help my body process histamine a little bit easier. Those things have all made a dramatic change in how I’ve been feeling, but the education piece was really what helped me get there. I just got every book I could find and read every article I could find about it so that I could help myself with it.

Kevin Pho: And my final question to both of you would be your take-home messages for the KevinMD audience. Linda, I’m going to start with you. What is your take-home message?

Linda Bluestein: My take-home message is that no matter what specialty you’re in, no matter what type of clinical practice you have, you are probably seeing people with hypermobility-related conditions and/or connective tissue disorders. These people will often be presenting with chronic symptoms, complex symptoms, polysymptomatic in different parts, different systems of the body. So have a plan when they come in. You’re probably not going to be able to get rid of all of their symptoms in a five-minute, 10-minute visit, but if you have a plan, have some resources available that you can share with them: different contact information, support groups, suggested things that they can read. Even just one or two things that you can share is incredibly helpful.

And then the last thing is validating someone’s experience. Just sharing that you believe them, or behaving like you believe them, is incredibly validating. I had colleagues who did the exact opposite. They said hurtful things, one of which happened in the doctors’ lounge at the hospital in between cases. I had to immediately go back in to anesthetize another patient, and I was in tears. This person just humiliated me in front of my peers. So it’s so important to listen, and just by doing that, we are actually doing something very helpful for that person.

Kevin Pho: And Julie, what’s your take-home message for the KevinMD audience?

Julie Griffis: I would say, from a patient perspective, you know your body best, and if you know something isn’t right, advocate for yourself. Don’t give up. Find doctors who will listen to you. Like Dr. Bluestein just said, it’s so isolating to be told that there’s nothing wrong and that it’s all in your head. Family and friends start to think the same thing. But don’t give up. Educate yourself, find support, and find medical professionals who will listen and really help you through your journey.

Kevin Pho: Well, thanks to both of you for sharing your time and insight, and thanks again for being on the show.

Julie Griffis: Thank you for having us.

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