Bryan Curtin, MD, Director of Neuro Gastroenterology and Motility, Mercy Medical Center in Baltimore, Maryland, talks about Ehlers-Danlos syndrome and the different types of it
Tell me what is Ehlers-Danlos syndrome?
CURTIN: Ehlers-Danlos syndrome is a disorder where basically the foundational building blocks of the body, connective tissue and specifically a molecule called collagen is abnormal and doesn’t function the way that it’s supposed to function. You know, you think about your body, there’s a lot of things that we take for granted and how our body functions. That it has to be the right amount of firmness as well as flexibility. Elder people with Ehlers-Danlos syndrome have a problem with basically the foundational building block of their body and thus, they have a lot of problems pretty much throughout the body relating to that flexibility. So a lot of times, they’ll have hypermobility of their joints. They’ll have problems with dislocation. In my area, obviously, they have a lot of GI problems and because connective tissue is so ubiquitous throughout the body, people with Ehlers-Danlos can have a wide variety of symptoms.
What is the connection between, if you’re talking about hyper-flexibility and GI, in my mind and most of our viewers probably won’t put the two together, joints and gastro, is there a connection?
CURTIN: When you really kind of break down your body to its most fundamental elements, you know, when you’re at, like, the molecular level, like when you’re talking about things like collagen, your body, even though it looks very different at certain points of it, the body is fundamentally made of the same kind of stuff at the molecular level, even in the GI tract, even in the joints, the muscles, the nerves, like when you kind of get down to the molecular level, connective tissue plays a role in a lot of those things. Even though you may not think of the joints being related to the GI tract, a disorder that attacks at the molecular level can have profound effects on both the joints and the GI tract because the GI tract really relies on its elasticity in order, especially for motility purposes, in order to move contents through, which is why Ehlers-Danlos patients will commonly have problems with their gut motility, which can also be a difficult thing to diagnose.
When you’re talking about gut motility, just for viewers who may not be familiar, what does that mean?
CURTIN: That’s a good question. The area that I specialize in which is GI motility. Basically, it’s how the GI tracts functions. It’s basically getting food from your mouth all the way to the other end in terms of anywhere that people may encounter problems with that. A lot of our current testing, especially in the GI tract, revolves around just kind of looking for structural abnormalities. You do an endoscopy, and I can see if a person has an ulcer. I can see if a person has a cancer. I can see if a person has inflammatory bowel disease. I can do a CT scan and I can see a tumor somewhere. I can see some other structural abnormality. GI motility is a harder field to diagnose because a lot of times, those patients who have severe life-altering symptoms will have no findings on an endoscopy from a structural standpoint and no findings unlike an imaging, like a CAT scan or something like that. It’s all about how the GI tracts functions. There’s a little bit of a stigma when we call it a functional disorder but obviously it’s important for your body and especially your GI tract to function in the way that it’s supposed to function. So motility disorders really focus on basically how the gut does its intended job which is moving contents through, making sure that you’re digesting and processing food correctly and eliminating it correctly too.
You had mentioned to me earlier that it’s not just one syndrome, Ehlers-Danlos is kind of an umbrella. Can you go into that a little bit? How many different subtypes or kinds of EDS could there be?
CURTIN: Yeah, that’s a good point. In Ehlers-Danlos, we use kind of this umbrella term, but there’s actually several different subtypes of Ehlers-Danlos. The most common being the hyper-flexibility type. There’s one particularly really severe variant called vascular Ehlers-Danlos which really affects the blood vessels and this is really scary because the blood vessels can actually spontaneously burst. People can die very suddenly from something like that, especially if that happens in the wrong area. Thankfully, that subtype of EDS is very, very rare but there are several others subtypes that have identified, 13 in total of different subtypes that have different genetics associated with them and that are diagnosed in slightly different ways. A lot of the manifestations of EDS tend to be slightly different based on the subtypes but the hypermobility and especially a lot of times, the GI issues tend to be more uniform even depending on what subtype you’re talking about.
Could you run me through a laundry list of some of the symptoms depending upon the type? You don’t have to break it up by type, but just give me a laundry list of somebody with EDS depending on, you know, what type they might be having.
CURTIN: So a lot of times, when I’m initially, you know, when I’m seeing a patient in clinic, you know, a lot of times, they’re not coming to me with a diagnosis of Ehlers-Danlos, they’re coming to me with, you know, abdominal pain or bloating. And you know, sometimes, especially if it’s a really young patient or especially if they make a comment or if I notice on a physical exam that they have some joint issues, at that point, that’s when I’m going to start looking into more signs of Ehlers-Danlos, just as I do see at my clinic so often, especially within a motility clinic. Pretty much almost all patients with Ehlers-Danlos will have some degree of kind of joint hypermobility or inflexibility. And also, I’ll start asking questions about, you know, have you ever had joint dislocations, you know, especially at a young age? Have you ever, you know, when you were a kid, did you ever kind of impress your friends with, you know, your ability to kind of stretch your arms, you know, farther back than other people would or bend your thumbs back, you know, or be able to kind of contort yourself in ways that other people couldn’t? And that’s actually part of the diagnostic criteria for making the diagnosis of Ehlers-Danlos. I’ll have them do a few simple maneuvers, for example, one is where you’re trying to have them bend their thumb back to the forearm. And so people with Ehlers-Danlos, especially the hypermobile type, can bend their thumb all the way back and touch the forearm. Sometimes you’ll see if they can bend their thumb back, almost make it horizontal when they kind of bend their thumb back all the way, people with Ehlers-Danlos can many times, touch the floor with their hands flat on the ground without bending their knees at all which is very difficult to do if you don’t have a degree of hypermobility. So that’s usually kind of a unifying characteristic, you know, those kind of subtypes. Not everybody will have every single one of those manifestations. And you know, especially in some of the more rare subtypes, you’ll find different variants of that. But when I see, especially when I do some of those basic physical exam findings and, you know, any doctor can do that kind of a physical exam, then that should kind of get the thought process thinking that there may be a hypermobile disorder like Ehlers-Danlos going on.
What are the treatments?
CURTIN: That’s a really complex question because ultimately, this is a foundational disorder, think of Ehlers-Danlos as kind of like a house that was built without more. So it may look normal from the outside but it’s much more fragile, it’s much more prone to having problems because the connective tissue holding it together is not as strong as it needs to be. There’s no cure for Ehlers-Danlos once you’ve made that diagnosis. That’s a condition the body has a foundational problem and we can’t give you a new body. A lot of people with Ehlers-Danlos will say that a lot of times in joking fashion, like, oh, you know, you have a new body in the back closet for me just because it can be so frustrating. The symptoms are really diverse and they can affect a number of bodily systems. I usually focus on the GI tract. I would say the most common symptoms from a GI standpoint, abdominal pain is very common, bloating and gastrointestinal, gastroesophageal reflux disease, constipation especially. I see a lot of people with constipation and difficulty evacuating their bowels. And those are probably the most common symptoms that I see.
In terms of treatments for treating the symptoms then for patients?
CURTIN: My process is that when patients will come to me and they’ll have some of the more common symptoms that we talked about, like bloating and abdominal pain, nausea and vomiting or constipation diarrhea and so these are very nonspecific symptoms. I mean as a GI doctor, I see those symptoms all day long. The key, especially with somebody with Ehlers-Danlos is that even though they have this foundational problem, the manifestations of that problem are going to be different from patient to patient. It’s really easy, especially when you see somebody who has a terrible condition like this, kind of throw your hands up and say oh, well, you’ve got this disorder and there’s nothing really we can do for you but there are ways that we can do for them. One of the ways that I attempt to address this is by doing a systematic evaluation of each individual patient to getting objective data about what is going on with that patient and a lot of times, the patients that I’ve seen in my clinic have already been to other gastroenterologists. As we discussed earlier, a lot of times, the disorders that people have, the GI conditions that people have with Ehlers-Danlos aren’t going to show up on the traditional studies that we have because we’re not necessarily going to see an ulcer, we’re not necessarily going to see a structural problem. There are more problems of motility or how things get through the GI tract. I will usually do a series of tests depending on the types of symptoms that the person’s having in order to objectively characterize those symptoms. I’ll look for things like food intolerances, I’ll look for things like small intestinal bacterial overgrowth, which is very common in people with Ehlers-Danlos because the motility of their small intestine is affected. I’ll do transit studies on the colon. I’ll do interictal testing to see if they have any problems with the function of their muscles of defecation. Sometimes we do swallowing tests where we measure the contractions of the esophagus. Sometimes gastric emptying studies where we measure the time which the stomach can process food and empty it. So that kind of evaluation, it’s fairly intensive at the beginning but it gives me a really good foundation of objective data to say to this patient, like, listen, these are the conditions that I’ve been able to objectively prove that are manifestations of your Ehlers-Danlos. Then once I have, kind of some concrete diagnoses I can go forward with the treatment plan depending on what the condition is.
I had asked you this earlier, I was sent an article, there are some researchers in South Carolina who believe they’ve pinpointed the gene or one of the genes responsible for EDS. First of all as, you know, coming from where you do – where you are as a clinician treating these patients, how important is that in the scheme of things?
CURTIN: Oh, it’s tremendously important. You kind of have your foreign body once the diagnosis is made, it’s very difficult. We’re basically managing the manifestations of the disease but we’re not necessarily attacking that foundational problem. I think that, this genetics work when they’re looking at and trying to isolate the genes as we talked about. There’s several different subtypes, more than a dozen subtypes of Ehlers-Danlos and they all have different, genes that are associated with them. They have different inheritance patterns. Some subtypes of Ehlers-Danlos are autosomal dominant which means it’s very easy to pass onto the next generation. Some subtypes are recessive which means that both parents have to be a carrier and then both of them have to pass it on to their child. I think that the the genetic work is going to be really important because that gives us another avenue of not just managing the manifestations of the disease but also looking at ways to potentially combat it even before those manifestations come about.
Is it OK if I ask you about your patient, Heather?
CURTIN: Sure, absolutely.
Can you tell me a little bit about her?
CURTIN: So Heather, she is a patient with Ehlers-Danlos, has many of the classic presenting symptoms of Ehlers-Danlos. She has a lot of issues with her joints. One of the first things that she noticed that was kind of going wrong with her body was that she kept getting problems with knee dislocation and so that can sometimes be a clue, she tells me, that a lot of times, people would just say oh, you got to exercise more or you just have to do this exercise or do this kind of physical therapy. It was really frustrating for her because, you know, she kept getting these kinds of joint problems and it was kind of unclear why her body was so fragile. Then later on, you know, she got some GI testing which revealed that she had a condition called gastroparesis, which is a really difficult GI condition where the stomach does not process food correctly. The main things that I’ve been dealing with for Heather are kind of managing especially the gastroparesis which is probably the main contributing factor to her GI symptoms right now.
Anything I did not ask you, Dr. Curtin, that you’d want people to know?
CURTIN: So I think that, you know, first, I think, you know, getting the word out there about Ehlers-Danlos is really important. And I think that it’s not only for patients and just the general public but also for physicians. When I was going through my training, I went through, medical school, I went through residency and the first few years of my GI fellowship, and I really didn’t have a whole lot of exposure to Ehlers-Danlos at all. It wasn’t until I started getting an interest in GI motility, that I really started seeing a lot of people with Ehlers-Danlos. It’s very common especially for a motility clinic to see a lot of these types of patients because nearly all of them will have some degree of GI manifestations. Whether that’s gastroparesis like we talked about or whether that’s a defecatory disorder or something else. I think that it’s not just a notice on the general public to sort of be aware that this is a condition that exists, but it’s also on the medical community as well to do a better job of kind of recognizing. It’s very common for people to see several different doctors and a lot of times, by the time they make it to me, they’ve seen several different gastroenterologists who did sort of the basic workup. The endoscopy, colonoscopy, maybe a CT scan. Nothing showed up and they said well, there’s nothing wrong with you but I think that it’s important to kind of keep these sort of more rare conditions in the back of our mind because even if we can’t, you know, fix the underlying Ehlers-Danlos syndrome, there absolutely are ways that we can improve that person’s quality of life with a systematic approach to diagnosis and treatment.
An estimate of how many people in the United States might have Ehlers-Danlos?
CURTIN: It’s pretty rare. You know, it’s less than 1 in 1,000 for right now. But I do think that this is one of those conditions where I do think that we’re probably going to see an increase in the incidence of that going forward just as, you know, awareness. Because I think that a lot of people out there are undiagnosed with it. Part of that is because of lack of knowledge on both in the general public as well as in the medical community and also, lack of access to, like, high-quality genetic clinics. So that’s a pretty, you know, sort of niche service, like being able to go to a genetics clinic and kind of get comprehensive testing. Not everybody has access to that, especially with the way our insurance system is set up, not everyone can pay for something like that to get that kind of, sort of nitty-gritty genetics workup. So I do think that that’s an underdiagnosed problem within the population.
Interview conducted by Ivanhoe Broadcast News.
END OF INTERVIEW
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