Dysautonomia, Pyroluria, maybe both ? 23andme results

Foggydog

Foggydog

Messages
5
I would really appreciate any input on my 23andme results. I’m trying to figure out who to go to or consult based on my results, symptoms and location(Tampa, FL). Thank you for any insight you may be able to give.

I’m 41 y/o male and I have always been somewhat active but felt as though my fatigue was considerably more than it should be. Dx with bipolar II around age 30. Age 33 had mitral valve repair surgery due to severe regurgitation. Docs thought it was a sudden rupture since I’d never been told of a murmur. Everyone said this will fix all your fatigue/exhaustion issues. NOT. I’ve been worse ever since with poor memory and brain fog being the hardest to deal with. MRI after showed nothing. I reluctantly chalked it up to some not to uncommon deficits associated with being on the heart lung machine or side effects from the lamictal I take for Bipolar.

After reading about OI/POTS/PEM/ect.. I feel as though I must have some form of dysautonomia also common with some who have mitral valve prolapse. I also fit the pyroluria description pretty well. About 3 weeks ago I stopped taking the m-folate and m-B12 I had taken for a couple weeks. I decided I wasn’t going to take anything else until a professional had advised me to after whatever lab work I need.

I’ll be seeing a new cardiologist next week who specializes in valvular disease. I hope he knows how to diagnose POTS/ect. I’ve only ever had regular echos so I’m hoping to convince him to order a stress echo.

I also have an appt with my primary to see what tests I can get him to order before seeking a $pecialist. Any thoughts on tests I should push for? I don’t want to start supplements not knowing my gut status. Metals?

I really appreciate any thoughts on my situation.
 

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V

Valentijn

Senior Member
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15,786
Can you post the results here directly? I'm not creating a login on their site to read them.
 
Jackie M

Jackie M

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19
Location
Illinois USA
You can assess yourself for a type of dysautonomia called POTS really easily at home using the poor man's tilt table test Taniaaust1 mentioned.

POTS has all sorts of characterizations (for example, high or low blood pressure) but the only diagnostic criteria is a sustained increase of heart rate of 30 beats per minute, or above 120 beat per minute, when changing from supine to upright posture.

You will need something to measure your pulse. A heart rate monitor (like people use for exercise), pulse ox, automatic BP cuff all will work. If you are using a BP cuff, make sure to have it positioned so you can push the button without moving or lifting your arm. I usually set it on my bed. I find it helpful to turn on the stopwatch on my phone so I can watch the time. If you physically cannot stand 10 minutes, don't force it -- do as long as you can without endangering yourself.

  1. Lay completely flat for 5 minutes. Do not play with your phone. Don't move around. Your head should not be propped up with a pillow. There should not be sound or activity in the room.
    After 5 minutes, note your pulse (an BP if using cuff). If you are using a BP cuff, it doesn't hurt to take it two times just to make sure your reading is as accurate as possible.
  2. Now, stand. Don't move. Just stand.
  3. Take your pulse at minute 1, 2, 4, 5, 7.5, and 10. (You can take it more often if you want)

If you pulse increased 30 beats, or above 120, and stayed that way, you may have POTS. If you did the home test with a blood pressure cuff and you noticed your blood pressure dropped low, you may have orthostatic hypotension. Orthostatic hypotension and POTS are two separate issues but are often co-occur.

If POTS is suspected, the doctor should order a holter monitor test then a Tilt Table Test. The Tilt Table Test is what is needed for a POTS diagnosis. Your doctor may perform a poor man's tilt table test in his/her office if s/he is familiar with POTS as it is an easy way to assess if the Tilt Table Test is likely to be worthwhile. Even if they don't know much about POTS, most doctors are happy to measure your pulse when you are laying on the table then again while you stand and then record the results to help get you to other doctors.
 
Foggydog

Foggydog

Messages
5
Thanks Jackie. I recognize you from your website. I haven't spent much time there, but it looks helpful.

I actually just had the TTT, sweat test and one other. By the 4 min. mark of the TTT my BP had gone from 120/75 to 46/36 which quickly ended that test. HR only went up by 10 or so. The other 2 tests were abnormal also but not as severe.

Within the same week my celiac blood panel with a pretty conclusive positive for celiac disease. I I've got the DQ2.5 SNP also but never really felt I was that sensitive to gluten. I have already noticed some improvements since cutting out gluten. I'm thinking the autoimmune stuff may have started after my heart surgery

Kryptopyroles result was 8.3.
Homocystine (cardiovascular) 10.6
B12 = 476
Folate,serum = 17

I'd welcome any advice or thoughts on these numbers or my 23andme results attached in the OP.
Thank you all for being so helpful towards everyone.
 
Jackie M

Jackie M

Messages
19
Location
Illinois USA
I hope they are able to help you with your orthostatic hypotension.

I have been reading a lot about genetics and autoimmune disease, and is a popular theory that in many cases, it takes several various factors for a genetic predisposition to a certain AI disease to express itself. So, it is very much possible from my understanding that major surgery could serve as a trigger.
 
ahimsa

ahimsa

ahimsa_pdx on twitter
Messages
1,921
Foggydog said:
I actually just had the TTT, sweat test and one other. By the 4 min. mark of the TTT my BP had gone from 120/75 to 46/36 which quickly ended that test. HR only went up by 10 or so. The other 2 tests were abnormal also but not as severe.
Click to expand...

Hi @Foggydog,

I hope your cardiologist is able to help with with treatment for your Orthostatic Intolerance. Your TTT results sound similar to mine except that it took me 20 minutes, not 4 minutes, before there was a severe drop in blood pressure.

The diagnosis that I got was NMH, Neurally Mediated Hypotension, but doctors use different terminology. But Orthostatic Intolerance is usually the umbrella term used for this set of problems.

If you're looking for information on treatment then you might try posting in the Orthostatic Intolerance (OI) forum:

http://forums.phoenixrising.me/index.php?forums/problems-standing-orthostatic-intolerance-pots.7/

You may have already read a lot about OI but here are a few links in case they are helpful:

* Medscape overview article
http://emedicine.medscape.com/article/902155-overview#showall
(use tabs on the left side of the page to navigate through the article)

* Video ("webinar") by Dr. Rowe of Johns Hopkins:
Managing Orthostatic Intolerance <-- video link on youtube.com

* Patient handout from Johns Hopkins (PDF file)
http://www.dysautonomiainternational.org/pdf/RoweOIsummary.pdf

* List of treatment options for POTS (some also work for NMH/NCS):
http://www.dinet.org/index.php/information-resources/pots-place/pots-what-helps

I hope this helps!
 
liverock

liverock

Senior Member
Messages
748
Location
UK
Foggydog said:
Thanks Jackie. I recognize you from your website. I haven't spent much time there, but it looks helpful.

I actually just had the TTT, sweat test and one other. By the 4 min. mark of the TTT my BP had gone from 120/75 to 46/36 which quickly ended that test. HR only went up by 10 or so. The other 2 tests were abnormal also but not as severe.

Within the same week my celiac blood panel with a pretty conclusive positive for celiac disease. I I've got the DQ2.5 SNP also but never really felt I was that sensitive to gluten. I have already noticed some improvements since cutting out gluten. I'm thinking the autoimmune stuff may have started after my heart surgery

Kryptopyroles result was 8.3.
Homocystine (cardiovascular) 10.6
B12 = 476
Folate,serum = 17

I'd welcome any advice or thoughts on these numbers or my 23andme results attached in the OP.
Thank you all for being so helpful towards everyone.
Click to expand...

Hi@foggydog

If you have confirmed celiac then you are probably low in copper. Low copper levels can cause multi symptoms and from your posts a lot of your symptoms could be due to low copper. Heart problems are common with low copper. Magnesium is very good for mitral valve problems ( google magnesium +mitral valve).
You need to get a ceruloplasin and serum copper test from your doctor to check for low copper. Copper supplementation should be done under medical supervision, too much is as bad as too little

http://glutenfreeworks.com/blog/2010/07/28/understanding-copper-deficiency-in-celiac-disease/

The test for Kryptopyrolles is normal and Homocysteine is higher than normal (which is about 7), so you need to go back on the methylfolate and B12 to get it down at some future date.
 
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babiediva2002

babiediva2002

Messages
3
Location
College Station, Texas
Awww, man. Some of the stuff your are saying. :( I hope I dont get an affirmative answer, but are you by chance hypermobile? That is, *double-jointed*, as most people tend to say? Maybe in fingers and/or elbows and knees? Forgive me for being so forward about it, its just that mitral valve regurgitation to the point of needing surgery isn't terribly common.
 
Foggydog

Foggydog

Messages
5
Hi @babiediva. Thanks for your concern.

Not hypermobile. I am tall & skinny but don't have any of the other physical characteristics of EDS. Skin seems fine although both my thumbnails turned almost flat about 9 mo. ago. I do have quite a few homozygous SNPs linked to EDS. And since it's autosomal dominant I probably have some form of it.

The last few years I felt like my joints were way too stiff for someone my age. Most of that seems to have gone away with a gluten free diet. Actually, I think all of my symptoms have improved.
 
K

kevinj

Messages
13
babiediva2002 said:
Glad to hear you are feeling better. :) Also glad to hear you have ruled out EDS; I hope you were able to do the same with Marfan's, which doesn't necessarily involve hypermobility. :) Best of luck.
Click to expand...



I thought you could have a genetic test for Marfan's syndrome that was definite? I'm wondering about that too
 
babiediva2002

babiediva2002

Messages
3
Location
College Station, Texas
I admittedly dont know the particulars involved. I am type 3 EDS, which involves no genetic testing in that sense (is similar to the type of diagnostic criteria described in the site below.). But this site was updated recently and quotes a 70 - 93 percent rate of accuracy. I only know of Marfans bc (tho not with me) there are a significant amount of EDSers co-morbid with it as well.http://www.genome.gov/19519224
 
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