Investigating Cause Of My Pots... Help!?!?

[LastUnicornLady]

Hello, POTSies! After a very frustrating doctor's visit and a cardiologist who supposedly "wrote the book" (or at least a chapter of it) about dysautonomia but only works with two medications, I have been further investigating what might be the cause (or at least the contributor) to my dysautonomia.

One of the things I'm really looking into is EDS- Ehler's-Danlos Syndrome. It actually seems like a highly probable diagnosis, because I've always been pretty "bendy" myself. Being a dancer, I am constantly around flexible people, so I never really took notice of it. In fact, I always thought of myself as not particularly flexible at all because I know people who can do "more" than I can. I'm realizing now that I actually am fairly flexible... I self-tested myself with the Beighton Score system (hope I spelled that correctly), and had at least a 5/9. Possibly more, because I can't tell if my elbows and knees actually hyper-extend or not. I've always had really "noisy" joints, as well as pain in my knees frequently, but it was always chalked up to "growing pains". Wondering now if it wasn't actually EDS... Lately I've been having fairly regular pain in one or both of my knees, my shoulder partially popped out of place for seemingly no reason (no trauma or anything), and my knee-cap has been doing much the same thing. When I went to the chiropractor, he said I had three ribs out of place, which explained the excruciating pain in my chest. I also have migraines, which are common with EDS, but they're also just a symptom of POTS in general. Speaking of which, I have a diagnosis of POTS already, which seems to be fairly common with EDS. Other POTSie symptoms I have that are also on the list for EDS are nausea and abdominal pain, fainting, and possible gastroparesis. My skin doesn't seem abnormally stretchy to me, although it does bruise/scratch easily. (I can scratch myself with just my fingernail.) Yet I also had a laparascopic appendectomy about three years ago, and didn't have any healing problems there. So... EDSers... does this sound like it could be EDS, or am I just stretching it? (Hehe... pun intended.) Could it just be simple "flexibility" and not EDS related?

Also, I was wondering... Is there any benefit to a formal diagnosis of EDS? From my reading, I've found out that it's not curable, and it's not very easily treatable, either. Most patients (from my understanding) simply have to learn a lot of coping mechanisms and take pain medication as needed. Unless there's vascular involvement (which I would sincerely hope there's not), is there actually any benefit (other than personal gratification) in getting a formal diagnosis?

I'll be seeing a new doctor soon who mentioned wanting to see if there was something else going on, and I'm pretty sure he mentioned EDS or something related to it. He also mentioned something else, but in my brain fog, I've totally forgotten what it was... Darn POTS. Ah, well. Any advice or tips are much appreciated!

[Christy_D]

My daughter was diagnosed 2 weeks ago. There isn't much they can do for it. She will be going to physical therapy to tone the muscles and the doctor recommended daily medication to help with pain but my daughter didn't want to take that route. She agreed to take advil 3x a day for a month to get pain and inflammation under control. There are lifestyle changes that can help, her job is to physical for her but she loves it, so she will continue with it until she can't do it anymore. As for helping with the POTS, the geneticist didn't make any recommendations for that; that will be left to her neurologist to treat.

As for only working with two medications, there are a lot of medications to try for POTS. My son went through a whole list of medications before finding the right medication and right dose. What helps one person, might make the next person sicker. Trial and error is part of the process in finding what will help you. A cardiologist diagnosed my son but was unable to treat him. We have stuck with neurologists for treatment. That's just worked for us.

Christy

[IceLizard]

The degree of flexibility varies between people. I was surprised to be diagnosed with EDS because I am not that flexible, but I had other signs such as odd scarring, hernias and scoliosis. My sister, however, is extremely flexible. I remember as kids going through the Guinness book of World records and having her try some of the "tricks" ! So, it seems like I got more of the dysautonomia and she got more of the joint instability. It was useful to know about EDS, because after I got diagnosed, it was clear that my mom and my sister had it, too. (People accused my mother of malingering, but she really was in a lot of pain from the EDS). I also learned that my son has a 50% chance of having it as well, but he is too young for a diagnosis.

[Katybug]

If you have EDS, it is important to know it even if you don't have the vascular type. There are other diagnostic signs and symptoms like high palate and blue sclera. Things I didn't realize I had until I saw a geneticist familiar with EDS. I am diagnosed with the hypermobile type however I still have to get an echocardiogram every year now to check my aorta and the health and function of my heart valves which are things that should be checked periodically with any type of EDS. My geneticist also recognized symptoms of cervical spine instability and potential chiari which is common in EDS patients. Sure enough, my c-spine is a hot mess with all discs herniated and one of which pressing on my spinal cord along with a shift in the vertebrae surrounding it. Waiting to see a neurosurgeon about that. These changes have probably been causing some of the neurologic symptoms that were being chalked up to pots and may even be causing or exacerbating my pots due to the location along my spine. I also have been able to get custom braces for my ankles as I regularly roll and sublux them....to the point that the soft tissue is so loose it doesn't even hurt any more. My cardiologist being slightly familiar with EDS also recently ordered a lower extremity duplex to see how much venous insufficiency I have in my legs (apparently a significant amount per the report). We haven't had a chance to talk about the results yet so I don't know if it will help my treatment or just confirm what we already knew but at least it's documented. I have never had issues with surgery or wound healing but it's nice to know that I should be making surgeons aware of my condition. I was also informed recently by a neurosurgeon I saw last year (prior to knowing about my neck) that I should never submit to a spinal tap unless I am in a life threatening situation due to having EDS. He said EDS patients have a much higher chance of having a spinal fluid leak than the average patient. So, I don't know if that helps you or just makes the waters murkier. But for what it's worth, for me, knowing has given some much needed information and also put me in the know for things I should be careful about with my medical care. I don't walk around like I'm made of porcelain but I do respect the need to take care on certain points.

[Chaos]

I would agree with Katybug that knowing a diagnosis like EDS helps because it's one more piece of the puzzle. While there isn't a cure, it's something "real" that docs have at least heard about sometimes (more often than they've heard about POTS) and they tend to take it a little more seriously. While there isn't a cure, it's another area where you can watch the research and keep a finger on the pulse of what's happening to see if information comes out that might be beneficial to you. Chances are you'll find it long before any doctor will see it unless you're in with an EDS specialist.

You don't have to have all the symptoms for a diagnosis and there is overlap between the various types of EDS so it's good to have it checked out and rule out the vascular type. Knowing you have it, you can also hopefully take steps now, before you get any older, to limit further damage to your joints by learning how to protect them and avoiding end range activities, keeping muscles stronger etc.

Sounds like you certainly have enough of the criteria to warrant a visit to a knowledgeable geneticist to check into it.

And, like Katy said, if you have it, there are certain things that should be monitored regularly in EDS patients so it's helpful to have the diagnosis. Bone density is another test that should be done earlier in that population than in the average female population.

Happy searching!

[ramakentesh]

Recent evidence suggested that those with EDS often have abnormal QSART suggesting a possible neuropathic basis for their pots along with increased venous elasticity which has never been demonstrated.

[TCP]

It started with EBV in 1984 and then led onto ME/CFS. At the same time I had an ovarian cyst removed and I suffered a miscarriage. I then got IBS and eventually in 2007 the nerve damage really came on really bad. I now have autonomic and peripheral neuropathy, POTS, Glaucoma etc

I have degeneration in lumbar and cervical spine.

I wondered about EDS as I have dodgy knees and my elbows overflex. I also am able to do lots of the movements with my hands.

[Katybug]

Rama,

Do you happen to have the paper that shows the link with EDS and abnormal QSART? I would love to have it as I really feel I need a skin biopsy. My sweat test was just barely normal but I have other neuropathy symptoms. That paper might help convince my neuro.

I know one person doesn't make a scientific study, but fwiw, my recent lower extremity duplex showed that my veins completely collapse with an abnormally small amount of pressure. That doesn't really speak directly to elasticity as much as the EDS making them so flimsy they collapse and don't allow good blood flow for very little reason like sitting in the wrong position.

Thanks

Katie