Ehlers-Danlos Syndrome - EDS was: Workup for POTS and/or Orthostatic Intolerance

[Guest guest]

Hello group,

I have been researching my little brain to death! I am updating my " report "

after seeing an electrophysiologist in Dallas in early April. I have been doing

what he asked of me and have been feeling so much better – the midodrine is

helping.

But in addition to that – I have been pursuing the Ehlers-Danlos Syndrome

diagnosis and I feel compelled to let you know about possible mis-diagnosis. I

was diagnosed with ME/CFIDS in 1999 by Dr. Salvato in Houston then

fibromyalgia in 2003 – they manifested as two separate events. I easily

satisfied every symptom on the ME/CFIDS criteria – ANY criteria including the

newest International Criteria. The FMS wasn't as good – I never really thought

that I had enough trigger points but the pain sensations were spot on. But

there were other things that I had that didn't relate to either ME/CFIDS or FMS

that I couldn't get any help with.

Well, the EDS diagnosis covers all the ME/CFIDS symptoms, the FMS symptoms AND

all the other seemingly non-related symptoms. So, I am writing this to share my

journey and I hope someone can be helped by it.

Ehlers-Danlos Syndrome is a collagen disorder that is inherited. The body

produces faulty collegen which is the glue/protein that holds your body

together. It is also in every part of your body: muscles, tendons, ligaments,

blood vessels, smooth muscles (gut), etc. There are several types but the three

most common are:

Vascular – most dangerous as aortic dissections can occur – the genetic test for

this is 90% accurate.

Classical – soft, elasticky skin, terrible scarring – the genetic test for this

is 50% accurate but I believe a group thinks they have found the gene that would

make a test 80-90% accurate.

Hypermobile – loose joints, able to do " tricks " or be considered double jointed.

- no gene has been found yet so this is done by physical examination, your

history and family history.

All the types can cross over – hypermobile type can have vascular issues and

vascular people can have hypermobile joints. But it runs true in families – if

your mom was hypermobile then you won't be vascular. There can be varying

degrees of severity within the same family. A child has a 50% chance of

inheriting this disorder from a parent. It does not skip generations but the

previous generation may not have been symptomatic. Here is a link to the

various types and a short description:

http://www.medicalzebras.com/ehlersdanlossyndrome.htm

Here's the deal: almost everyone who has been diagnosed with EDS has previously

been MIS-diagnosed with Fibromyalgia, Chronic Fatigue Syndrome, Lupus, MS or

seronegative Rheumatoid Arthritis.

Any doctor can diagnose you if they know what to look for. The best doc is an

adult geneticist usually associated with a teaching hospital, the next best

would be a rheumatologist. But ANY knowledgeable doc can diagnose this but

confirmation is usually done by the geneticist.

Most docs use the Brighton Criteria for the Joint Hypermobility Type (not

Vascular or Classical – google those) and within this critieria is the Beighton

Scale (unfortunate that the names of the docs were so similar!).

http://www.reumatologia-dr-bravo.cl/para%20medicos/crit%20y%20diag/DIAGCRITJHS.h\

tm

It is difficult to do this yourself as you need to be 90 degrees from the joint

to see if it over-extends. I had evaluated myself for this and determined that

I did not have it but then saw the doc in Dallas.

So, fatigue is a huge part of EDS as is pain which is Myofascial Pain Syndrome

not FMS and there are things that can be done for it – Trigger point therapy,

etc. This is why Neurontin, Lyrica and Cymbalta do not work for EDSers as the

pain is not originating in the brain but instead is a muscle/joint issue with

faulty collagen. There is some research being done for EDS that is showing that

there actually might be a fault in the muscle itself but that is experimental.

Pain in joints that cannot be explained by xrays – that is a part of EDS.

Gut issues are also very prominent in EDS – I was diagnosed with gastroparesis

which answers a lot of questions. Leaky Gut is prominent as is IBS, GERD,

hiatal hernias and ulcers.

Dysautonomia is a major part of EDS – POTS, OI are all EDS issues as well. Some

of it may be because the collagen in the blood vessels is faulty and when the

brain sends the message to the blood vessels to contract (done through

neurotransmitters), they cannot constrict as they are too elasticky. Pelvic

Congestion is also common because of this. Another reason for dysautonomia may

also be because of Chiari Malformation or Chiari like issues. I feel that I

fall in the latter category – I have had severe whiplash and do not have the

proper curve in my neck – lordosis?- so my head does not sit on my neck

properly. Dr. Suleman found that blood flow is restricted when I stand so

something is being pinched. I have been wearing a soft foam collar and that

terrible " coat-hangar " pain is practically gone. If I wear the collar for an

hour, the pain goes away and I can go 2 hours without it. I sleep with my

collar on and I wake up with less pain and less POTs symptoms in the morning.

General weakness in arms, hands, legs. I have had numerous EMG's and other than

a few spots in my legs – no answer could be given for the weakness. Pain,

tingling, numbness in extremities can be explained by EDS and/or chiari like

symptoms from craniocervical instability (head doesn't sit right on neck causing

pinching of a nerve). Dizziness and lack of balance – all part of EDS.

The only piece that I have not resolved is the immune dysfunction. There is a

related disorder to EDS called Common Variable Immune Dysfunction and this may

be what I have instead of ME/CFIDS. There are some with EDS with the chronic

viral infections but not all so this is something I must resolve and CVID may be

the answer to that.

Here are some links to start researching if you are interested:

www.ednf.org – they have a slew of brochures that you can view online or print

to take to your doctor.

There is also a forum on

http://www.inspire.com/groups/ehlers-danlos-national-foundation/

as well as but it is not as active:

edsers/?yguid=275214264

EDNF promotes support groups and most of them can be found on Facebook. I have

recently joined a support group for EDS on Facebook that meets once a month

(search for EDS and the name of your town - e.g. EDS Houston. Our local Adult

Geneticist is present at most of these meetings and I have learned a great deal.

It has been a life-changer for me.

Here are the positive changes I have made beyond the midodrine for POTS:

1. I am wearing tennis shoes not flip flops around the house and I add my arch

supports and my fatigue has been lessened by 30% or more. Really amazing! I am

going to get some high top tennis shoes and better orthotics.

2. I am to wear braces/wraps when I do active work – either exercise or

housecleaning so that my joints don't dislocate or subluxate (almost dislocate).

This has helped tremendously to reduce my overall pain levels. This includes a

back brace like lifters wear.

3. Wearing a soft foam collar that I bought at CVS -this has been a godsend. I

am interested in a hard collar for sleep and exercise and am considering gentle

cervical traction for my neck issues. There is also surgery to consider but

that is not in my thinking as once you stabilize one joint, the nearby joints

start to weaken. Also, I will be wearing my collar less once I start

strengthening my neck because if you depend on these braces, the joints weaken.

4. Exercise – no aerobic, no real stretching. Warm water swimming is the best

as the water pressure helps to keep joints in place (I don't have a big issue

with joints dislocating).

5. Food – gluten free and casein free as before but now I am following a

gastroparesis diet which means low fat. Funny thing is I was already doing

that! Domperidone is used for gut motility which I put myself on anyway (from

India).

6. Sleep issues – circadian rhythym and sleep apnea can be issues but I am okay

here.

7. Pursuing Mast Cell Activation Disorder which may explain my chronic

urticaria.

8. Pursuing Common Variable Immune Dysfunction which may explain chronic

infections.

9. Pursuing confirmation of Craniocervical Instability for help in making my

neck less problematic.

In summary – if you have gotten this far – I would have to say that I do not

have ME/CFIDS since it is a diagnosis of exclusion. I have been told by a pain

doc familiar with EDS that I do not have FMS (also a diagnosis of exclusion) but

instead it is Myofascial Pain Syndrome as part of EDS. But I have to explain

the immune dysfunction so it is possible that I have both EDS and ME/CFIDS.

There is good news and bad news with this change in diagnosis. The good news is

that there is actually something that can be done to make some of these issues

better. The bad news is that there is no cure.

The good news is that there is validation and help from doctors who know EDS.

The bad news is that EDS is severely under-diagnosed and considered rare (it is

really isn't – EDNF has the statistics down to 1 in 5000 but that may change to

1 in 3000).

The bad news – when a cure for ME/CFIDS comes – which I think it will in the

next 5 years – it won't apply to me. The good news is my son does not have EDS

so fearing that he would trigger over to ME/CFIDS someday is a non-issue.

I hope this is helpful to someone.

Marti Zavala

>

> Hi group,

> I wanted to share my really extensive workup by a

Cardiologist/Electrophysiologist in Dallas Texas. Dr. Amer Suleman (pronounced

)at the Heartbeat Clinic.

> http://www.theheartbeatclinic.com/

>

> I went to him for my POTS/OI and got some autonomic testing I had been wanting

for a while. I finally have a prescription for a brain MRI to check for Chiari

Malformation.

>

> the description of tests...

>

> Metabolic Stress Test - Consisted of 3 breathing tests - 1. sitting and

breathing into a tube - slow and deep 2. sitting and breathing into a tube -

fast (as in hyperventilating) 3. on exercise bike, breathing into tube for a

number of minutes based on my age, weight and height. exertion level increases

as test progresses. This is where they tested me for VO2 Max which is used as

upper threshold for exercise to reduce post extertional malaise. I have been

wanting this test for 3 years (the VO2 max part).

>

> Clinical Test of Sensory Integration of Balance (CSIB) -the Balance Test- done

in 4 parts - first on hard surface (eyes open then closed) then on foam (eyes

open then closed). Feet are placed in slightly pigeon-toed stance.

>

> Videonystagmography (VNG) - for dizziness - see this site for info - I had the

4 parts that are mentioned here:

> http://www.stopdizzi...ervices_vng.asp

>

> Tilt c TCD/PCO2 - TCD - I think this is Transcranial Doppler - measures mean

blood flow velocity (mV) during head-upright tilt - testing of cerebral

autoregulation. I wore a headdband with an ultrasound piece on my temple. This

was connected to a laptop and I could hear the swishing sound of my HR.

>

> Ansar - some sort of breathing test while supine. I have forgotten and asked

and forgot again.

>

> PFO - Patent Foramen Ovale- With Transcranial Doppler setup, doc injected some

medication/saline/something into an IV and I took a deep breath, held it and

bore down. He did it twice and said I do not have a hole in my heart.

>

> SA - asked and forgot the answer. sorry..

>

> Echo - done supine as baseline then...

> Stress Echo - after baseline echo and blood pressure readings, I walked slowly

on a treadmilll, increasing in effort until my heart rate was over 145 (which

didn't take long) then laying down quickly and tech taking more echo 'pics'.

They were surprised at how quickly my HR increased and decreased. Then more pics

while supine. This is in the midst of the tornado drama so it was started and

stopped but we got it done.

>

> QSweat - electrodes, sweat collectors, some medication - on for some minutes

then off. did 4 places on my left side (forearm, 2 on leg and foot)

>

> QST - This test was three parts. The first part was letting tech know if I

could feel the vibration from small box with a little clapper that rested on my

big toe. I was to hit a button for yes an a different button for no. Second part

was box with an air hole strapped to my foot. First it was cold air then hot and

I was to hit a button for yes if I could feel the air then no if I could not

feel it. The next part was pain using hot air from the second part but this time

I was to rate the heat based on scale of 1 to 5. The test stops when it is just

too hot to tolerate.

>

> Hokanson - Tornado drama, power outage, etc - this is pushed off till

tomorrow. - Didn't get done today either. Staff was busy with rescheduled appts.

Little disappointed.

>

> Gastric Emptying test - drank sip of OJ then small amount of OJ with

radioactive isotope. Machine was over my abdomen while the tech and I chatted.

Did not do the solid food part. Not sure why.

>

> Holter - 24 hour

>

> ABM - Automatic Blood pressure monitor. I am wearing a cuff that activates

every hour.

>

> Loop - 30 days starting tomorrow when staff takes Holter/ABM off

>

> EEG - Some baseline tests-then 1 hour EEG.

>

> NCV - Nerve Conduction Test - not with needles like EMG which tests for

peripheral neuropathy. This was done with electrical current and checks for

autonomic neuropathy.

>

> These are all done together - ultrasound tests.

> Carotid

> TCD - Transcranial Doppler of my neck

> AAA - Abdominal Aortic Aneurysm

> Segmental Pressures - Blood pressure measurements on my legs

>

> The results:

> My results:

> 1. Doc is still not convinced I have POTS. My TTT with him was normal.

(Unfortunately, I was wired and exhausted and could not fall asleep Monday night

so I took a Klonipin at around 3:30am. And the room the TTT was done was

freezing. I think these two things (plus perhaps excess adrenaline from the

trip) caused me to handle the TTT better. I was in agony and was in tears after

the test was over but I didn't have the POTS symptoms) Doc doesn't think the

klonipin would be enough to throw the TTT off. He thought perhaps he caught me

on a good day. He knows I have some form of orthostatic intolerance but doesn't

feel that it is necessarily POTS. He is going to do more testing once my biggest

issue is under control (which is not dysautonomia). He has prescribed midodrine

as a therapeutic trial. If I have 30% improvement, he will still not be

convinced it's POTS. If it is an 80% improvement, then he is happy to eat his

hat and agree that it is POTS. I have several things going on that it is

confusing the POTS issue. No Florinef or any other medications so we can

determine how the midodrine trial goes. Later, once we determine the form of

orthostatic intolerance, we will do bloodwork, discuss an exercise program and

biofeedback. Also add lifestyle changes, salt, water, florinef,, etc.

>

> 2. I have EDS and he wants me to see a geneticist at Baylor. Complete

surprise!

>

> 3. I have gastroparesis. He doesn't want me to do anything about this yet as

we are doing a midodrine trial so no new meds for now. He does want me to google

gastroparesis diet and follow that.

>

> 4. The whopper: I flunked all of the balance tests. One of them, I flunked so

badly, you can't get any worse. He said I have the balance of a 90 year old

woman. This has nothing to do with dysautonomia. I am to see a

neuro-Otolaryngologist - a balance/vestibular specialist. Until then, to get a

jump start, I am to get an MRI of my brain to check for any possible causes and

also check for Chiari malformation. He wants me to go ahead and get started with

Vestibular Rehabilitation Therapy. This might be related to EDS but it's not

related to POTS.

>

> 5. Second whopper but not sure if this is related to number 4 or if it's

related to dysautonomia - The blood flow to my brain should be the same whether

supine or standing. My blood flow rate is 49 and this should be the same laying,

sitting, or standing. Within 2 minutes, it drops from 49 to 26 then in 30

minutes it drops to 20. Five minutes after being laid back, it climbed to 26. I

don't know how long it takes to get back to 49. I can't remember what we're

going to do about this - I will have to check my notes.

>

> 6. Autonomic tests - mildly abnormal.

>

> All other tests were normal - no heart issues, no hole in my heart, no damaged

blood vessels, no carotid artery issues, no aortic artery issues. Functional

capacity (capacity to exercise) was normal.

>

> Doc said everyone has been focused on POTS that no one has looked at my

dizziness problem. (I was a participant in a research study and the neurologist

did a quick evaluation and knew there was a problem and urged me to see a

neurologist when I got home. I have been under the care of a neurologist for the

past 3 years but she never picked up on any of this. I compensate well, I guess.

>

> #4 answers the question why I never got better even though I did exercise.

> #5 answers the question why I wake up and become alert when I lay down flat

(from sitting position) - when I lay down, my brain gets blood flow, therefore,

oxygen and glucose.

>

>

> Hope this list is helpful to someone. I did list that I had ME/CFIS but was

there for my POTS. Normally, I would not list ME/CFIDS in order to get help but

thankfully, this doc is a diagnostician at heart and saw beyond that.

>

> Marti

>