What Are Genetic Reasons For Pots?

[icesktr189]

Other than EDS, what could cause POTS that is genetic?

My mom just got diagnosed last month with POTS and I am worried about my daughter getting this. We do have autoimmune problems (ulcertive colitis... my mom and uncle have it) but my uncle doesnt have any dysautonomia symptoms. My mom didnt come down with POTS until 50 years old and I did at 18. I dont have any symptoms of ulcertive colitis, just IBS.

Just looking for opinions! thanks

Also, I was reading up on adrenaline problems. I found a lot of articles stating that when you have consistently high levels in your system, it sets off you immune system. This makes perfect sense for me because as soon as I quit smoking, my orthostatic problems got 100 times worse, so I started having massive amounts of adrenaline. After that I kept getting EBV and my severe allergies kicked in out of no where. I am constantly sick now, where as before I NEVER got sick. I think if I can stop all this adrenaline, my immune system can build back up.

[lieze]

That must be the connection with anxiety making allergies worse too-all of the adrenaline and I think sometimes histamine is released with anxiety.

I'm not sure the cause but there is a strong link in my dads side of the family specifically with the women.

[sue1234]

I don't know, but I just thought of one thing that could influence it. If I remember correctly, progesterone has an calming affect on the immune system. That's why it is produced in such huge amounts during pregnancy, so that our body doesn't react to the baby in an attack fashion. Dani, you got POTS at 18(hormones ramping up, like alot of teens when they get POTS) and your mom got it around the age of 50(like me, when menopausal hormones are winding down). Hmmmm....

[lieze]

I believe there is a connection with the hormones.

My anxiety issues kicked in right at puberty.

Then by early to late 20's I had a chance to get a handle on it and lived a somewhat happy carefree life until I hit my early 40's again.

At the same time that severe anxiety kicked in weird things happened with my menstrual cycle. Here I was like 41 had a 12 month old baby I carried

to the bathroom because I felt strange and here I was spotting mid cycle.

Along with the spotting were extreme emotions bawling real hard.

Picking up the baby realizing what was going on and feeling huge emotions.

Then right after that my periods started coming every two weeks and I was waking up in a sweat with my heart pounding.

I think that was my sign that things were changing hormone wise for me.

So during that period that I had somewhat stable hormones and felt my best while my health held up while I was pregnant, I had stability.

A period of about 20 years of it give or take and then everything fell apart.

I was never on any meds for anxiety during that 20 years.

I was able to develop a life pattern where I found enjoyment for the most part and felt good and confident about myself.

The other women in my family also got hit in their 40's.

[MightyMouse]

Norepinephrine Transporter Deficiency, which is genetic, causes the symptoms of POTS. Linda Smith, founder of NDRF, has this type. http://www.nejm.org/doi/full/10.1056/NEJM200002243420803?HITS=20&hits=20&FIRSTINDEX=20&searchid=QID_NOT_SET&stored_search=&tdate=9%2F30%2F2001&journalcode=nejm&RESULTFORMAT=&fdate=1%2F1%2F1975&sortspec=PUBDATE_SORTDATE+desc+Score+desc&maxtoshow=&fulltext=norepinepherine+transporter&

Also, my type is genetic, caused by a collagen and bone growth defect on FGFR3, aka “fibroblast growth factor receptor 3.”

http://ghr.nlm.nih.gov/condition/hypochondroplasia

the same gene is implicated in Marfans, which can mimic POTS/NCS symptoms too, and achondroplasia (dwarfism). Folks with damage to FGFR3 can have hypermobility just like folks with the EDS.

another is Porphyrias.

http://www.nlm.nih.gov/medlineplus/ency/article/001208.htm

Those are the ones I know of...and all but the FGFR3 are listed in the "causes" section on the main dinet website.

Nina

[sue1234]

Mighty Mouse, funny you should show these. My new doctor is testing me for porphyria, something none of the others have ever mentioned. Well, he's testing me for alot of other things also. I believe I'll just end up having to donate a pint of blood for all of the tests! Not good when you already fear you might have low blood volume!!

[lieze]

You look so good in your picture Mighty Mouse so healthy and vibrant.

You're like a ray of sunshine. : )

[lgtaylor100]

Nina -

Do you know what the tests are for these disorders?

I agree with Lieze it is a nice picture.

Thanks,

Lynne

[MightyMouse]

All of those are genetic screenings done via a blood test (then wait at least a month), but with porphyria, I believe that there is a simpler test, which is to place urine collected from you during an attack in sunlight--it turns colors in UV light.

http://urology.stanf...rmal_urine.html

I was seen by a genetic specialist at a children's hospital and my gene tests were drawn there.

[Katybug]

I think Hashimoto's (low thyroid) can be linked to dysautonomia and is believed to have a genetic link. My mother and older sister both have Hashimoto's, although neither of them are diagnose with any type of dysautonomia. (But my mother does show some suspicious symptoms.) I have not tested positive for it, but, neither did they until they were in their 40's. Something to look forward to!

[ramakentesh]

Id say the majority of cases are genetic, although some may be acquired.

The main forms of POTS as recently described can be catagorised into:

1. Hyper / Low Flow POTS and NET

2. Normal flow - or splanchnic pooling forms of POTS

3. High flow POTS - neuropathic or autoimmune

- NET deficiency may be genetic or acquired through potential hypermethylation of the NET gene promoter.

- Low flow POTS seems to be caused by abnormal catabolism of angiotensin II through a genetic defect in ACE activity.

- Normal Flow POTS seems to be consistently an activation of nitrergic nerve endothelial nitric oxide levels, leading to excessive blood pooling exclusively in the stomach, again this could be acquired but appears likely to be a longstanding genetic defect.

- High flow is associated with autoimmunity which tends to be based around the genetic histocompatibility of the sufferer, thus is likely also genetic in basis.

[lgtaylor100]

I had a blood test that indicated a genetic defect In ACE activity. Isn't it odd that I would not have any symptoms for 61 years. Is there anything that can be done about it?

[sue1234]

Igail, I was just thinking that. I don't disagree with Rama at all, but I believe that something genetic CAN lie dormant or be turned on due to environmental influences. I would like to know what "turned" my POTS on, because then I believe it can be "turned" off.

[ramakentesh]

This is definately true. Ankylosing Spondylitis is a good example. the gene is there from birth but it doesnt seem to kick in until 'SOMETHING' happens .

if you have the genetic ACE defect do you have Low Flow Pots? This looks like the most intently studied form of POTS at the moment.

[lgtaylor100]

The doctor that did my TTT said I had low flow POTS but since he only did the TTT without medicine how would he know? What are the characteristics of low flow POTS?

[ramakentesh]

Low flow POTS results in reduced blood flow to the extremities, reduced blood volume and sometimes postural hypertension from excessive peripheral resistance. Were any other tested conducted?