Help Me Translate Test Results + Eds Question

[autumn]

Long story short, I have the report from my latest round of autonomic testing, but neither the specialist who ordered it nor my PCP has called to discuss the results yet. While I'm waiting to hear back from someone, I thought I'd come here.

My first testing in the lab was borderline abnormal with no serious tachycardia but with labile BP, including drops of more than 20 points, so the doctors were throwing around the possibility of NCS and/or OI, though they said my history strongly indicates POTS. This round is abnormal, no qualifiers, but I don't know what things mean:

- Measures of HR variability with deep respiration, tests of cardiac vagal function, were in the abnormal range. This is classified later in the report as a measure of parasympathetic function. Other measures of sympathetic and parasympathetic functions were in normal ranges.

- On my tilt, my response "approached criteria for an exaggerated postural tachycardia." I went from 105 to 133 in the first 10 minutes. I was nervous, so my starting HR was quite high; as soon as they put me flat again, I was at 77.

-During active stand, there was an exaggerated postural tachycardia. I went from 79 to 119.

-My BP was in normal ranges.

The report says the study is abnormal, with evidence of an exaggerated postural tachycardia and with the one measure of parasympathetic function out of normal range. So, does this mean POTS? The report said the postural tachy is a nonspecific finding and has been associated with a whole host of conditions -- my guess is the lab sees POTS as secondary to another problem, including things that don't necessarily originate in the ANS. I'm nervous this means even more testing to find out what else is going on. But does having abnormal cardiac vagal function indicate that this is based in my ANS? Does having a radically different first round of testing -- the only abnormal thing was my labile BP -- indicate anything else? Thoughts or impressions on this?

Now, the EDS question:

The autonomic specialists said they thought I had EDS, but they wanted me to have genetic testing to confirm. My PCP said the testing doesn't exist, so I'm a little lost. I had LASIK four years ago, and my eyes have steadily declined for distance vision. My eye doctor is familiar with dysautonomia and EDS, and before we develop a plan -- do an update LASIK procedure or get glasses to use when necessary -- he wants me to sort out the EDS issue. How do I do this? See a geneticist?

Thanks in advance for any insight you can share.

[Chaos]

As far as the EDS, you can either see a geneticist or a rheumatologist. They both deal with it. There are blood tests for some types of EDS,(like the vascular type) but there isn't a test yet for the EDS-hypermobility type. That is diagnosed by clinical presentation and your history.

I think that when you start getting abnormalities of cardiovagal function, you then qualify as having Autonomic Neuropathy. POTS can be part of that picture. Dysautonomia is a big umbrella term. Autonomic neuropathy is a more specific diagnosis that tells the docs more specific info than just a general Dysautonomia diagnosis.

Did you have your two rounds of testing at the same facility or different ones? I've had the same tests run at different sites and had different results. Also, especially with POTS, you can have different responses from day to day with HR. (Same with BP with NCS) With your active standing you certainly look like you qualify as POTS as well. If they order testing to figure out the "why" you have this, that would probably be a good thing.

Good luck figuring this all out!

[autumn]

Thanks for answering, Chaos! I definitely fit the clinical/history requirements for the hypermobile EDS. The specialists wanted me to see a geneticist to be sure which kind I might have, if any. Guess it's time to make an appointment with someone.

My testing was done in the same lab. The doctors expected that they could get more dramatic numbers out of me than they got during the first round -- because my history so strongly indicates POTS, they thought I was probably just having a good day -- so they repeated all the testing. It sounded like they expected me to faint because of my BP drops on the first round, but I didn't have BP issues this time. I'm OK with that.

I do not at all like the sound of autonomic neuropathy, but you're right -- it was listed in the report among the conditions that postural tachycardia can be associated with. My PCP gave me the POTS dx months ago based on my history and a TTT she had me do locally, but the specialists dismissed those numbers because the test wasn't done the way they do theirs. (My PCP sent me to their lab for confirmation.) They had me keeping a BP/HR log for them, but then I got tired of paying too much attention to my numbers, so I stopped. I shouldn't have, I know, but I suppose I should fax them the results I have; almost all of the HR changes from supine to standing are 35-51 bpm after three minutes.

I'm OK with getting to the bottom of why I have (probable) POTS, but this place is three hours away, so visits often require me to take a sick day from work. It's mostly the hassle that I'm not looking forward to, but answers would be wonderful. It's been almost a decade since I started this whole adventure, but I thought it ended with just a couple of heart arrhythmias. Guess I was wrong!

[Chaos]

I understand the hassle you describe. Personally I seem to go in cycles- when I'm feeling bad, I REALLY want to know why and will undergo most any testing readily if it seems it will help (hence why I've had 4 TTTs). When I'm feeling better, I lose most of my interest in testing or figuring out any of the why's and wherefore's of this whole mess.

Sugartwin posted awhile back on the various hypotheses they have for why there is such a high correlation of Autonomic dysfunction and EDS. Can't remember all of them, but maybe if you look thru her posts you'll find it, or maybe she'll chime in again on this one.

I remember reading once that "dysautonomia" is a symptom- NOT a diagnosis. So I guess EDS-HM and Autonomic Neuropathy are the diagnoses that explain the symptoms of POTS and NCS...at least in my case.

Best wishes on your journey to finding answers!

[autumn]

Thanks, Chaos. I'd been through so much cardiac and other testing since I was little that I've been worn out over this many, many times. When my PCP in September told me she thought I had POTS, I thought it'd be one TTT and I'd be done, but I've had three of them since September or October -- in addition to GI tests and thyroid tests, some that I'd done before and some that I haven't. It's just a lot of testing in the last couple of months, and I'd like to be done.

My doctor agreed with you that it looked like POTS and autonomic neuropathy, so I called the specialists today and asked if someone from the office could call me back to discuss the results. One of the doctors got back to me within a couple of hours, which was great. He said the test confirms POTS, but he told me not to worry about the abnormal parasympathetic response because it's not a perfect test and could have been abnormal because of the way the devices were placed. I had all the nerve blood work done at my last appointment, and everything came back fine, so he said not to worry about neuropathy. He told me there is a skin biopsy test I could have done for EDS, and my PCP said she's going to try to get me to a rheumatologist; apparently that's not so easy to do in my area unless you have something already diagnosed or a positive lab. Strange.

The secretary said there should be an appointment available in late August or early September to get me in for a follow-up, which the doctor today said would focus on symptoms and treatment. He said he didn't expect more testing because I had all the routine stuff they usually do.

I agree with you about dysautonomia being a symptom. I'll go searching for the EDS thread, too. Thanks!

[HopeSprings]

Autumn - it sounds like you are getting a very good evaluation. Can I ask where and what Dr. you are seeing?

[autumn]

Naomi, I'm seeing Dr. Freeman and his fellow at Beth Israel Deaconess Medical Center in Boston. They're handling all my autonomic testing; my GI, thyroid EDS testing are all being done where I live. (Boston suggested only the EDS testing out of those three.)

I've read a lot on here about Dr. Freeman, and while I'm having a great experience with the BIDMC doctors, it does seem I'm in the minority. I've heard he has no bedside manner and doesn't care about how you're feeling, but that's not really why I went there. All I wanted was answers, a confirmation of a diagnosis, which I got today. I'm looking forward to going back to discuss symptoms and treatment again, but mostly because I just want to learn more about how this all works, even if I'm not sure of the why. I'm less emotional about my health and think the medical and scientific aspects are pretty cool, even when I'm feeling really bad, and I expect that's why things have been going well with the hard-core scientists/researchers. I thought Dr. Freeman was helpful and thorough, and even though he wouldn't diagnosis me with POTS after the first tilt because the numbers weren't there, he still thought I had it and began treating me for it. When the fellow called to see how it was going, he referred to my "probable POTS." There are no clinical diagnoses there because the doctors are true by-the-book scientists, so everything has to be confirmed with testing and numbers, and I think a lot of patients are a little turned off by that kind of culture.

I also adore my PCP, who is all about treating the whole patient and being a clinician -- and she's the one who first dx'd me with POTS, so I'm very fortunate to have her.

[HopeSprings]

"There are no clinical diagnoses there because the doctors are true by-the-book scientists, so everything has to be confirmed with testing and numbers"

I like this! This is what I want - proof, definitive answers. Not sure I could handle an unfeeling Dr. though. I'm glad you're having a good experience - please keep us updated.

[autumn]

I honestly don't think he's unfeeling, but he's not going to coddle you or be a soothing voice of assurance. He's going to tell you what he thinks, and he's going to do what he can to treat you, but there's no extra mile of being a sympathetic ear, if that makes sense. He answered all of my questions and didn't brush me off at all -- to the point where he repeated my testing because he understood that people have better days than others and believed me when I said things are usually worse. I've definitely had doctors who were both more full of themselves and less knowledgable, and those doctors wouldn't have bothered testing me again. But Dr. Freeman was right, and I'm grateful he didn't just let it go after the first round of tests.

I probably said this on another thread, but if you go in and treat your appointment with him like a business meeting, for the purpose of exchanging information and working toward a solution, I think it'll go just fine. I wouldn't cry in his office and tell him how terrible I feel -- that's just not his thing, from what I've gathered -- where I've actually done that with my PCP when I was growing increasingly frustrated during a bad stretch.

I'll definitely keep you updated. And, I have to say, I was incredibly impressed that I got a call back so soon from the fellow. I can't even get called back that quickly from some of my local doctors! I'm truly glad to have this team on my case.

[sugartwin]

There are no clinical diagnoses there because the doctors are true by-the-book scientists, so everything has to be confirmed with testing and numbers, and I think a lot of patients are a little turned off by that kind of culture.

That can be good and bad. It's good when doctors go ahead and treat symptoms anyway, even without a likely diagnosis. The problem with EDS is that for the Hypermobility and Classical types, the types that are most likely to be affected by dysautonomia, the diagnosis is almost always a clinical one. There is no genetic test for the Hypermobility type and for the Classical type, the test is only 50% accurate. The test for Vascular EDS is 98% accurate however and is sometimes done via biopsy. Is this the type they suspect you have? In any case, I strongly suggest requesting a geneticist (rather than a rheumatologist) to confirm the diagnosis.

As to why up to half of the population with Classical and Hypermobilty type EDS are affected with dysautonomia, the leading theory used to be that stretchy tissue in the lining of the blood vessels allowed blood to pool, causing a reflex tachycardia. However, after thoroughly testing the blood vessels of people EDS and finding them normal, this idea has been somewhat discredited.

Some people with EDS suffer from a Chiari Malformation, a result of laxity in their cervical vertabrae. This can entrap the cerebellar tonsils and lead to dysautonomia since this is the part of the brain that oversees the autonomic nervous system. This is a proven cause of dysautonomia and can sometimes be reversed by surgery to free the cerebellar tonsils.

Dr. Diana Driscoll, a therapeutic optometrist with EDS has proposed that subclinically high CSF pressure might be causing symptoms of dysautonomia, sometimes in concert with mast cell activation and chronic cerebrospinal venous insufficiency (CCVI). The details can be found at Dr. Driscoll's site, prettyill.com There are clinical trials in progress to test the integrity of this theory.

Dr. Thomas Chelimsky, a neurologist out of University Hospitals in Cleveland proposes that most if not all dysautonomia is a sign of mitochondrial dysfunction and that this is also the case for EDS. Clinical trials have just begun.

I think I got them all, lol. This is an area of real interest for me, and very, very few studies have been done, leaving most doctors completely unaware of the link between the two.

[autumn]

Wow, that's a lot of info! Thanks, Sugartwin!

I'm not sure what type of EDS they think I have, but I expect I most fit Hypermobility or Classical type (they thought my skin was fairly stretchy/gathered easily, but I'm not sure how much skin involvement there really is). At my first follow-up, before POTS was confirmed, they said my "likely EDS" could be causing my "probable POTS." They did mention the vein stretchiness, though. Interesting that there's literature saying that's not a legit connection.

They told me to see a geneticist, and I completely agree -- but if "likely EDS" is my ticket to see a rheumatologist in this area, I'm going to take it just to get into an office. I had one in my hometown who was able to help me with myofascial issues, and I'd really like to have someone where I am now, especially because my joints are giving me so much trouble lately and my myofascial issues are making a reappearance. It's probably the weather, but I've been in a lot of pain (I'm pretty sure sacroiliac joints are not supposed to move this much) and think a rheumatologist is the right person to see. I figure I can get to a geneticist through the rheumy or on my own; there's one in town.

Thank you so much for all the links and names. I have a lot of reading to do!

[Chaos]

Sugartwin- I think I remember you saying something about a theory of it being auto-immune somehow? That the autonomic fibers aren't recognized correctly and the body starts trying to destroy them? There was some connection to EDS with this theory but can't remember what it was. Do you?

[autumn]

Sugartwin- I think I remember you saying something about a theory of it being auto-immune somehow? That the autonomic fibers aren't recognized correctly and the body starts trying to destroy them? There was some connection to EDS with this theory but can't remember what it was. Do you?

That's really interesting. My doctors have thought since I was little that I have some kind of autoimmune condition, but they haven't been able to find any proof. It comes up again from time to time, and I'm going to see an endocrinologist in a couple of weeks; yet another ENT thinks it could be thyroid based, even thought all my labs -- again -- have come back normal. My pediatrician kept looking for things like rheumatoid arthritis because of all my joint pain. Those labs were normal, too.

[sugartwin]

Sugartwin- I think I remember you saying something about a theory of it being auto-immune somehow? That the autonomic fibers aren't recognized correctly and the body starts trying to destroy them? There was some connection to EDS with this theory but can't remember what it was. Do you?

Thank you for reminding me, because I fully intended to list it when I started writing my reply but totally forgot about it sometime between then and when I finished! I blame the heat

Anyway, in EDS occurrence of autoimmune disorders is 30% more common. Some doctors speculate that this is because the placenta is more permeable in EDS, allowing the cells of the mother to mix with those of the child. Later, the immune system would be prone to attacks of its own systems. The un-myelinated fibers of the autonomic nerves might be particularly susceptible.

I haven't heard as much about this theory lately though.