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Is POTS syndrome hereditary?


jell
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Jell, the answer to that question is not yet known. Researchers are working on it. People have experienced onset of POTS symptoms following a virus, a pregnancy, a trauma/accident, and a surgery. I did not have onset following one of these precursers, yet I know that I did not inherit this syndrome either. 'Tis a mystery ...

Best,

Merrill

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I think the real answer to that question lies in the source of each person's POTS. POTS can be either primary - caused by imbalances in neurochemicals and/or adrenergic hormones - or secondary, caused by something else entirely. In my case, my POTS is caused by EDS, which IS hereditary, therefore it's entirely possible that it is hereditary in my case. However, to complicate matters, EDS does not always cause POTS, as many hyperextensible people will tell you. Therefore, it does not always manifest itself in everyone who indeed has the inherited disease of EDS.

Take my family, for instance. I am the only person to have been diagnosed with EDS so far, but based on the diagnostic analysis Dr. Grubb used to determine I had EDS, I can deduct that my sister, mother, and daughter also have EDS. He used physical "tests" like bending my thumb and fingers back, among other things, to help make his diagnosis. My sister, mother, and daughter also have all the same characteristics that he based his diagnosis on. However, my sister does not have POTS, she has fibromyalgia and panic attacks (which have not yet definitively been linked with POTS and/or EDS, but the evidence is mounting). My mother used to have the same symptoms I have, but she "outgrew" them and didn't have them as bad. (My assumption in her case is that, as a ballerina, her calves were always sufficiently strong to keep her blood pumping enough to make her symptoms mostly tolerable.) My daughter, a gymnast, does not have many symptoms as yet, but I am beginning to see signs.

Back to the original question... is POTS hereditary? Well, it certainly CAN be, if you take the fact that EDS is inherited and EDS can sometimes cause POTS. But it's not ALWAYS. And even if it IS inherited, it does not mean that people who inherit it will have symptoms even close to what some of us experience. Each person's body is a melange of their own personal traits, chemical balances, and physiology, and what is truly a problem for one person may not manifest itself in the same manner in another.

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Well I've been told that over the past few they've finally been able to link POTS to being hereditary.

My mother has been symptomatic since at least the early 90's and wasn't diagnosed until after me. She has a much more milder form of dysautonomia and NCS.

When I was talking to my aunt she said that my symptoms sounded so much like what was wrong with her mother, my grandmother.

I have a first cousin that during her first pregnancy developed the onset of tachycardia and is still trying to deal with it.

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There are known heritable ANS disorders which are called "familial dysautonomia". It's more prevalent in the Jewish population, but has occured in other ethnic groups as well.

See the FD website for more info

http://www.familialdysautonomia.org/

Additionally, Ehlers-Danlos is a genetic disorder and can be associated with POTS and other ANS disorders sometimes (although not always).

And, as others have said, we really don't know much more although many folks here on the board will tell you they have first degree relatives (sibling, parent, child) who also have an ANS disorder.

Nina

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Guest tearose

Hi jell and welcome.

I agree with the others, the field of dysautonomia is still very new.

It may take years before they know what is in the genes!

best regards, tearose

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I guess I'm not sure how to take what Nina said, but my mother did have a tilt table and was diagnosed by the cardiologist. My cousin has suffered tachycardia, fatigue and some other symptoms since her first pregnancy 2 years ago. My aunt has a severe tachycardia problem but don't think it's related to POTS. Then my grandmother didn't have a chance of a decent diagnosis.

So yes, there hasn't been much research done on POTS, whether it be about genetics or the illness itself. But it would be interesting for researchers to do a thorough analysis of facts.

I also attached several blurps and there websites, stating both ways.

This is from Vanderbilt -

Orthostatic Intolerance - Family History

A research protocol investigating the possibility of genetic links for orthostatic Intolerance Conditions is currently being undertaken at Vanderbilt University's Clinical Research Center.

Venous blood samples are obtained for analysis and history detailed by questionnaire.

Requirements for participation in the protocol are: A diagnosis of one the Orthostatic Intolerance Conditions, including:

POTS - Postural Orthostatic Tachycardia Syndrome

Partial Dysautonomia

Mitral Valve Prolapse Dysautonomia (MVP Syndrome)

Idiopathic Hypovolemia

http://www.emedicine.com/ped/topic2860.htm

http://www.mc.vanderbilt.edu/gcrc/adc/oi.html

Our understanding of orthostatic intolerance was greatly expanded in 2000 when norepinephrine transporter (NET) deficiency was reported. In a proband with significant orthostatic symptoms and tachycardia, we found disproportionately elevated plasma norepinephrine with standing, impaired systemic and local clearance of infused tritiated norepinephrine, impaired tyramine responsiveness, and a dissociation between stimulated plasma norepinephrine and DHPG elevation. Studies of NET gene structure in the proband revealed a coding mutation which converts a highly conserved transmembrane domain Ala residue to Pro. Analysis of the protein produced by the mutant cDNA in transfected cells demonstrated greater than 98% reduction in activity relative to normal. Studies of the proband and her family revealed correlations of plasma NE, DHPG/NE, and heart rate with the mutant allele. These results represent the first identification of a specific genetic defect in OI and the first disease linked to a coding alteration in a Na+/Cl- dependent neurotransmitter transporter. Identification of this mechanism may facilitate our understanding of genetic causes of OI and lead to the development of more effective therapeutic modalities.

http://www.ndrf.org/ChatSummer99.htm

There are a number of autonomic neuropathies that are inherited. Probably about twenty five percent of patients with neurocardiogenic syncope have a positive family history (what I term constitutional orthostatic intolerance). About twenty five percent of patients with POTS also have someone else in the family with orthostatic intolerance. The precise genetic basis of familial dysautonomia is known, but that for POTS and neurocardiogenic syncope are not.

A family history of Orthostatic Intolerance within immediate family members.

Address and Contact Information:

David Robertson, M.D.

Bonnie Black, R. N.

Vanderbilt University

Clinical Research Center

AA3228 MCN

Vanderbilt University

Nashville TN 37232-2195

Telephone: (615) 343-6862

FAX: (615) 343-8649

e-mail: bonnie.black@mcmail.vanderbilt.edu

http://home.att.net/~potsweb/POTS.html

Genetically inherited neurotransmitter disorders, including disorders of catecholamine production and release, such as Norepinephrine-Transporter Deficiency.

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Briar, I'm not sure what you mean regarding what I said, but I'll try to clarify.

There's not much research on the genetics of the more common forms of dysautonomia, as opposed to familial dysautonomia. NIH was working on their genetic study for a gene that controls blood pressure via angiotensin. Only some forms of EDS are able to be tested reliably for a genetic marker, others have yet to be identified.

Additionally, based on discussions on this formum and others, we know that ANS issues can and do run in some families.

Nina

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Miriam, there is a test called the "Beighton Scale" and it measures the flexibility (hyperflexibility) of certain joints. If many joints are hyperflexible, it may mean that one has a collagen disorder, such as Ehlers Danlos. Please see the "help yourself" pinned section at the top of the forum, and skim down the the EDS links. The scale is on the ednf website under the diagnostic information.

Nina

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Nina,

Do EDS patients have an elevated ANA? And are you born with EDS, or can one gradually show symptoms over time and become increasingly "flexible" until it's significant enough to determine one has EDS?

Thanks,

gena

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EDS is a genetic collagen defect, so you are born with it.

Informally, I can tell you that there are a few of us with nonspecific eleveated ANA and also EDS, but there may not be any relationship. ANA can be elevated from allergies, medications, infection--basically, anything that sets off the autoimmune response.

Nina

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Thanks Nina. My ANA has been elevated for years, but they've never pinpointed any specific cause. I'm quite limber and flexible, but according to the neuro at Mayo who tested my flexibility, he didn't think I had EDS. I was just curious.

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YES, it is hereditary-or I should say it CAN be. I was finally properly diagnosed about a year ago and my son was dx last week. There are several of my family members who show "POTSY" symptoms but haven't been diagnosed as of yet.

There are lots of articles out that give heredity as one of the causes of POTS. Dr. Grubb, and my son's new POTS dr both have said that it can be hereditary. It doesn't mean that it always is, however. THere are many causes. If I weren't so tired I would find some of the many article that state this. Maybe I will have the strength to do it for you tomorrow :blink: Sorry, it's just been a bad day.

Hope this helps

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