Diagnosis - Confusion

[bruc]

So many here have been diagnosed with blood pressure and or heart problems leading to a dysautonomia diagnosis,

so here is my question; is orthostatic or heart rate problems a concrete requirement for diagnosis?

Can the dysautonomia be localized to just the GI tract?

thx.

bruc

[Chaos]

There is a fair amount of research I think on dysautonomia related to GI issues...specifically IBS etc. You may not qualify as POTS without the HR changes but they are clearly finding more evidence that autonomic dysfunction is related to a lot of GI issues. POTS is just one form of dysautonomia under the big umbrella that term covers. If you google autonomic dysfunction and GI or IBS you will probably find some info.

[mully2014]

I agree that for it to be true POTS you have to have the heart rate change but like Chaos said there is so many other things under autonomic dysfunctions. i would talk to your doctor about it so you can figure out how to get it treated the best. You could have POTS though and some of the other symptoms aren't noticable or there yet. Goodluck in your search!

[juliegee]

Interesting question, Bruc. As I recall you have had very extensive GI testing that revealed both nerve and muscle damage to your GI tract- right? Most of us only have nerve damage, apparently a neuropathy secondary to the autonomic dysfunction... WHAT do your docs say can cause muscle damage to the GI tract? That may provide some clues.

Re, the autonomic dysfunction, I am guessing that you had a TTT. If so, where? How long did it last? I ask because so many folks here had what I consider mini TTT's that often fail to reveal the true autonomic dysfunction. At Hopkins, they have the patient lie down for 10 mins. before taking baseline BP and HR. Then they tilt the table almost upright for a full 45 mins. IF the patient hasn't experienced any abnormalities, they inject something to simulate mild stress and begin another FULL 45 mins. This is the testing that my son had & NEEDED. He was VERY symptomatic during the entire test- sweating, nauseous, anxious- BUT his HR and BP were perfectly normal until his BP dropped so low as to be immeasurable and he barfed (with the antroduodenal manometry probes in place -a Hopkins first!) This occurred at 35 mins!!! Had he had a 10 min. "Vandy Special," they would have missed the true underlying cause of most of his symptoms. BTW, his HR increased to 140BPM right before the faint/barf- this is a delayed form of POTS in addition to the NMH.

I'd love to hear about your TTT and any other autonomic testing that you've had that has revealed nothing abnormal. I wonder if your testing failed to reveal an underlying autonomic dysfunction.

[bruc]

You recalled correctly.

Extensive GI testing revealed systemic myopathy of the small bowel and esophagus, suspected to encompass the entire GI tract. Test results were done via esophageal manometry and antroduodenal manometry(24H). Myopathy clearly evident. Keep in mind the antro test only reveals a pattern which is suggestive of neuropathy or myopathy but cant differentiate between a nerve or muscle cause. Additional evidence for the myopathy was massive SIBO. Myopathy will cause lifelong SIBO trouble. Concerning auto dysfunction: GI didnt think so. In his experience, when a patient appears with auto dysfunction, the finding is typically neuropathy on antro manometry not myopathy, like you said in your post secondary to auto dysfunction. Primary muscle problem of unknown origin?

Autonomics dysfunction diagnosis, dysautonomia, made based on test results; autonomic dysfunction localized to the GI tract and is responsible for the severe debilitating symptoms including abdominal pain, weakness, coughing swallowing problems, and constipation; lasting many years.

If this GI dysfunction is secondary to autonomics, finding of myopathy on antro manometry is very rare.

Ive been unable to find another patient with these findings and conclusion, antro myoapthy and localized.

Autonomic testing. Complete testing as you described.

Duration 3-4 hours. No antro probes in place, Hopkins may be the only place to do this.

Results.

Q-Sart abnormal diminished amplitude

TST abnormal suggesting length dependent phenomenon

Valsalva ratios normal

Heart rate range to deep breathing diminished

TTT -- systolic blood pressure drop of 13 mm Hg progressed to a max of 19mm Hg at 2 min then stabalized. Slight increase in heart rate above 17 beats per min above baseline. No obvious symptoms during test ie nausea sweating anxious etc except constant abdominal pain.

Conslusion: Length dependent postganglionic sudomotor neuropathy associated with cardiovagal dysfunction, borderline vasomotor adrenergic dysfunction.

Are they bad enough to be the sole cause? Dont know. Conflicting opinions.

I do have an additional primary muscle problem however, its supposedly limited to skeletal muscle only and not smooth muscle.

Pieces of the puzzle have slowly trickled in but they dont fit together. Im losing my will to keep up this fight.

Hope your well.

Happy New Year.

bruc

[Rachel]

Hi Bruc,

I have heard of someone who has severe gastroparesis as her only dysautonomia symptom. She is a friend of a friend, so I don't know her personally. From what I remember, her gastroparesis was bad enough that she couldn't eat at all. She either had a J tube or tpn for nutrition. She was fairly healthy and able to work. It might not be very common to have GI problems as the only dysautonomia symptom, but I do believe it is possible.

I'm sorry you are having difficulty figuring out what is going on for you. I hope that 2012 will bring some more answers to the puzzle.

Rachel

[juliegee]

To be honest, Bruc, so much of this is way over my head. But, it seems to me from perusing through your DX; that you DO have an autonomic dysfunction. They found irregularities with your sudomotor, cardiovagal, and adrenergic function. I'm guessing that your testing was at Mayo- right? Did they run the test for the autoimmune ganglionic antibodies? The most current testing is revealing that more of us suffer from that than originally thought AND there is treatment for that etiology- IVIG infusions.

How did your docs describe your test results to you? I agree that they seem confusing & don't point to a clear causal factor- mine don't either...just a lot of rare abnormalities, none related to the other supposedly...

One thing that stuck out to me as I researched your test results was DIABETES. Every abnormal test result you have is usually secondary to diabetes. I'm sure you've explored that possibility already . The same was true for my then 12 year old son, when his GI stuff was so uncontrolled. Hopkins treated BOTH his autonomic dysfunction & small bowel dysmotility before he improved. His DX was all nuerogenic (per TTT & antroduodenal manometry) and he also suffers from severe and recurrent SIBOs- not exclusive to myopathy.

Are you able to eat now? What are your worst symptoms? How current is your testing. I ask because testing gets so much better every year. Below is just a bunch of links that describe parts of your DX. Some are pretty good.

I hope someone else chimes in with better answers. Happy & Healthier New Years to you!

Julie

________________________________________________________________________________

"Conclusion: Length dependent postganglionic sudomotor neuropathy associated with cardiovagal dysfunction, borderline vasomotor adrenergic dysfunction."

http://www.mayoclinic.org/medicalprofs/autonomic-testing-applications.html

Length Dependent Postganglionic Sudomotor Neuropathy:

http://www.medscape.com/viewarticle/705183_6

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3048308/

Cardiovagal Dysfunction:

http://www.ccjm.org/content/76/Suppl_2/S37.full

Vasomotor Adrenergic Dysfunction :

http://www.bcbsm.com/mprApp/MedicalPolicyDocument?fileId=72106

[bruc]

Julie,

Thanks for your efforts!

Greatly appreciated.

In-exact science that defines medicine; so much unknown.

My autonomic test results; the degree of irregularities thats the question. Are the irregularities bad enough to cause this level of dysfunction?

Have seen a number of test results where its clearly obvious that dysfunction exists, like your son's results.

I must admit, like you said, that I dont know. I can pick up bits and pieces but the complexity and intertanglement of the sympathetic, parasympathetic and enteric nervous systems combined is overwhelming.

Antibodies testing has been done. Not at Mayo Clinic. My experience with Mayo was not pleasant 10's of years back. After 10 days of testing there conclusion, psychiatric. Knew they were wrong then and now have accumulated evidence to prove it. I hesitate to recommend them. There NOT a sure thing!

Your diagnoses sound like mine; a puzzle of rare abnormalities that dont fit together, confusion and lack of clarity reign large.

Systemic myogenic GI DX (multiple manometry) and a lack of POTS leads to my confusion, neurogenic is the norm.

Current testing is ruling out MACD and Mito disease.

No sign of diabetes.

After all these years, basically in a management and wait and see mode.

Neither of which has an obvious course.

Is your son on frequent antibiotic therapy for SIBO? Cant get rid of it.

Will advances in medicine catch up to us and resolve our diagnoses?

Constant severe abdominal pain is predominant ( imagine intense labor pain all the time) and which causes many other clinical complaints ie fatigue, poor appetite, nausea, headache, and others. Taken as a whole the deficits clearly affect quality of life and in fact your life revolves around them.

Hopefully, research advances will benefit all of us in the future.

If nothing else we can help others.

[juliegee]

Bruc,

That sound awful to live with such pain and all of the accompanying symptoms . Mack (and myself to a lesser extent) predominantly experience nausea (as opposed to pain) when GI motility issues flare. This is constant for him... just as it is for you. He has to have daily treatment or he wouldn't be able to eat without chronic nausea and vomiting. When his GI stuff is out of control, the autonomic stuff is much worse too.

Mack has a very complex med regimen. Dr. Rowe and his GI motility docs are attacking his issues from many different angles. I'll share his med regimen in case it is of any benefit to you. For his GI issues, he takes: Nexium (for GERD), Ery-Ped 800mg (as a GI prokinetic) & a daily Culturelle (I recall your docs are opposed to that.) At this point, he gets an average of one or two SIBOs a year. It is not constant and Zithromax is his treatment of choice. He also takes daily florinef and thermotabs (to boost blood volume), lexapro (he used to experience anxiety before he fainted- now it seems to help balance his autonomic nervous system), concerta (for fatigue and bradycardia), minocycline (to address any underlying infections, such as Lyme), claritin and ranitidine (to address flushing & other clinical mast cell issues.) His other meds are calcium (as he is dairy-free), a good multivitamin, sublingual B-6/12 (to address RBC abnormalities.)

The fatigue, poor appetite, and nausea you describe are debilitating for Mack too- without his meds. He also gets intermittent severe headaches, not daily ones. He has to take narcotics, like codeine, to break them once they occur.

I know you said that you've had MCAD ruled out- that's pretty tough to do as testing is so tricky. Have you tried an empirical trial of H-1's and H'2's to see if they have any effect? Mack uses claritin and ranitidine. I was in a very bad rut following my gallblader surgery. My GI tract stopped working entirely. I was in and out of the hospital for almost a year- THEN, the MCAD meds broke that cycle for me- WITH florinef and Ery-Ped. (I only needed the latter two for about a month.) I still have to take about 3 doses of Miralax daily to keep things moving. There are many studies linking "D" and even "C", IBS, nausea, vomiting, and all sorts of motility issues to mast cell disorders. The best way to be certain that that is NOT the source of your symptoms is to have multiple biopsies takes throughout the GI tract. These have to be stained with a specific dye and checked for excess mast cells. This is not a standard test & has to be pre-arranged between mast cell specialist and a GI. I plan to have it done when I undergo my endoscopy & colonoscopy this year. There is a specific mast cell stabilizer called gastrocrom that is very effective for MCAD patients with predominately GI symptoms.

I am so sorry that all of the docs you have seen so far have failed to help much. When my GI tract stopped working, I thought I would die. It was so frightening. I was unable to do anything but lie down. It was terrifying when it happened to my son. GI motility patients are so under-treated and ignored in the US. And, the symptoms are incredibly disabling. Like you, I pray that medicine advances in this area to provide much needed relief. Hope my ramblings give you a few new ideas

Julie

[bruc]

Im on alternating anitbiotics, augmentin, rifaximin and trying to find one other that will work.

Miralax never did anything for me. Need something stronger, Nulytely bowel prep 17g of powder daily or more as needed.

Cant take anything for the pain nausea or most anything else because majority of drugs slow the tract down.

Mine is already bad enough!

Have not tried H1, 2's empirically.

Many years ago tried a 4 month course of gastrocrom, didnt do anything.

That result combined with my lack? of MCAD symptoms leads me to eliminate a MCAD disorder.

A muscle biopsy would be a great benefit to define my myopathy, however, there are multiple problems with them.

For example, ability of the person taking the biopsy, pathological analysis often inconclusive, very invasive, have to take a specimen from the right place ie how does the specialist know where to take the sample from its a guess, in my case a full thickness biopsy would be needed which would bring added risks with pre-existing SIBO. Hope your samples conclusively define your disorder.

Im very familiar with lying down.

It is what it is just try and deal with the hand your dealt.

The internet has been a godsend; opened the door to research on my own, finding those who can relate, and doing my homework on finding the "right" physician but even then the results can be disappointing. GI diagnoses, many disabling, dont receive the press and $$ that are needed to improve quality of life. Shocked to learn how few true GI motility centers there are in this country, a handful.

Ramble away.

Never know when a ramble might lead to the ticket I need.

Bruc

[juliegee]

Hey Bruc-

Here is an EXCELLENT article about GI motility and mast cells http://alford.grimtrojan.com/Mast_Cells_GI_Motility_Disease.htm Read this before you totally rule out the idea of a mast cell disorder.

The idea behind the multiple biopsies is to look for excessive mast cells. Apparently they are "patchy" in the GI trac- hence the need for multiple biopsies. I think this is commonly done during an endoscopy/colonoscopy. Like I said, this has to be pre-arranged with a GI to specifically look for them as they need a special stain & process, etc. (I've got the instructions if you want them.) It would be great if the GI could use the same biopsies for testing to better define your myopathy. Goodness, the pain & discomfort you have been living with warrants this extreme testing.....when or if you are ready. I should do lots more testing myself and am in a place where I don't see the point; so I am certainly not taking my own advice

Sorry the gastrocrom didn't help, BUT I am pretty sure that has to be taken with the H-1 and H-2. Yeah, Miralax didn't work for me either- until the GI OKed up to eight doses a day. (I was repeatedly hospitalized at that point because my GI trac had completely stopped working.) I have settled on 3 doses a day with 500mg of magnesium & I am OK. My GI also recommended daily colonoscopy preps which sound like what you have settled on- in a lower dose?

I so agree with you about the awful hand motility patients have been dealt with in this country- so few docs, so few drugs for a disorder that can be so disabling. It is shameful...especially considering that drugs like domperidone are available OTC in most other countries

Better days ahead-

Julie

[targs66]

Thanks to both of you for this interesting discussion, and especially for the link to the article about mast cell disorders. Very informative -- I feel like there's a clue in here to the basis of my condition. (Just very inarticulate today, so I'm not going to even attempt to explain it!)

[bruc]

Julie,

Great article -- Mast Cells and GI.

They obviously play an important but yet not fully understood function in the GI tract.

Differential diagnosis of Mast Cell Disorder is much like the cause of dysautonomia, elusive and difficult.

Currently, Im on doxepin, and will soon be on Ery-Ped. May try the H1,s H2's you suggested.

Cant do it all at once or wont know what's working.

There is family history of mastocytosis(grandmother) hence the prior trial of gastrocrom and revisiting this diagnosis.

Honestly, with the complexities involved in the GI tract; I dont know how anything gets sorted out diagnostically.

Biopsies to define a myopathic finding require full thickness sample.

From what I was told and read; this type of sample cant be obtained during an endoscopy/colonoscopy.

Would require a laparotomy. Multiple samples aquired this way would bring significant risk; a risk that may yield nothing.

It's extreme testing that would require full knowledge of the risk/reward profile.

Unfortunately, Ive already had 2 exploratory lapyrotomies years ago not knowing a myopathy existed. Irritating for sure.

Additional abdominal surgeries just makes things potentially worse.

Yes, sample analysis definitely peaks my interest and curiosity but were alike in another way, dont see the point to all that risk.

Nothing a sure thing in medicine.

IF they are in they for something else then by all means.

Miralax -- entire bottle in 24-48 hours does nothing.

Bowel prep only thing that works and that can work one day then not for another 4-5 days or whatever.

No pattern the bowel does whatever and whenever it wants to.

Nulytely is what I use - often used for bowel prep for colonoscopy.

BUT I dont use it the usual way.

I only use the powder in the bottle. Use 17g daily mixed into a glass of water. Triple or quadruple up to get it going as needed.

Still can go for days with no movement.

What a life we lead but it could be worse.

bruc

[juliegee]

Geez, I remember when my colon was acting like that. It was awful as you well know Taking such large doses of Miralax nauseates me, I will keep your Nulytely trick in mind.

I probably wouldn't do the laparatomy either after you described the risks...

WHY are you on doxepin? That is a med commonly used in mast cell disorders. Don't worry about adding an H-1- you definitely have that covered. When my MCA was really bad, I was on that too. I've ratcheted it down to atarax in the PM now. If you want to add an H-2, just try zantac/ranitidine- I take it out of necessity to treat my GERD (also mast cell mediated.) But, I agree- don't add the ranitidine and Ery-ped at the same time so you can gauge benefits and side effects independently.

Are you taking any GI prokinetic now? If Ery-Ped is your only, be sure to start with a super low dose. All GI docs/motility specialists prescribe wacky high doses. My son is 165 lbs, 6'2" and he only needs 1/4 tsp of the 800 mg liquid twice a day. You probably know that it works by SLIGHTLY irritating the GI trac into emptying more quickly. IF you overly irritate things, it will defeat the purpose.

So weird about the mastocytosis connection in your family. Really makes me wonder about MCA for you. The medical literature claims that masto is not genetic, BUT all sufferers have multiple family members affected. Published medical studies are not keeping pace with reality- another group completely under-served by the medical community

Please let us know if any of the meds help or if you learn anything new. Fingers (and toes!) crossed that you see improvement.

Julie