September 22, 2015 at 1:16 pm #899reo55Participant
Hello all. I am new to this site and new to POTS and the Driscoll Theory and all that. I’ve got some questions and would love to hear your opinions!
A little back story.
I was recently diagnosed with POTS. I think my story is a little different than most, because I sort of came to this diagnosis in a roundabout way. I have been closely followed by a cardiologist since I was 10 years old due to a genetic heart disease that runs in our family called Hypertrophic Cardiomyopathy (HCM). I have been genetically tested and I test positive for the genetic mutation that causes the disease. It can be very treatable, but severe in some cases. Unfortunately, our family has had particularly severe outcomes. We have had 19 deaths in four generations. In fact, the NIH did a study on our family that was published in a peer-reviewed journal of cardiology in 2001. You can find the full article here: http://circ.ahajournals.org/content/103/1/65.long
Anyways, I have received yearly echocardiograms for the past decade because of the mutation I carry. I have always had some chest pains and exercise intolerance. However, my echocardiograms always look normal, so my symptoms were always attributed to anxiety. But this past year I noticed my symptoms got a lot worse. I spent this past summer at a high altitude and noticed constant palpitations and extreme fatigue. I returned to the cardiologist and they decided to do a full workup. I received 2 week holter monitoring, a cardiac MRI, and a stress echo. The good news is that everything looks normal. I currently have no left ventricular thickening or markers for the disease! However, I have sinus tachycardia. So my cardiologist ordered a tilt table test and I was diagnosed with POTS. Both of my cardiologists, who are HCM experts, do not believe there to be any link between POTS and HCM. In other words, they do not think that my POTS is due to the genetic mutation I carry. I am seeking a third opinion of another specialist just to make sure. I have also searched the literature and cannot find anything on it.
However, there are some HCM theories that say that stress on the heart may trigger the onset of HCM, or speed the progression of the disease, so my doctors feel that it is best that my POTS be treated. I am currently in college. Some days are better than others with the POTS. My main complaints are fatigue and palpitations, though I also experience some dizziness and headaches at the base of my head, right where the neck and head meet. I found that my POTS greatly improved when I came back to a lower altitude. I realize that some people have a much more severe case of POTS, and I am thankful that this is not the case for me (knock on wood!). However, I would like to have more energy and get rid of my tachycardia because of the genetic mutation I carry.
I have been reading the Driscoll Theory. One thing that I’m wondering is how everyone fits into the theory. Can POTS exist without EDS and mast cell issues? How might I know if I have EDS and mast cell issues? Are EDS and mast cell issues severe? I get a bit anxious because I see that POTS is linked to things like Multiple Sclerosis! In addition, I am wondering how intracranial pressure fits into all of this. I know that the theory says it is a result of EDS, but I’m wondering if it can occur without EDS?
Any responses and opinions would be helpful.September 30, 2015 at 3:59 pm #5661Dr. DianaKeymaster
Welcome to the site, although I’m sorry to hear that you are suffering, and that your family is so greatly affected. I think I could write a book in response to your questions, but I did want to hit on a couple of things. I do NOT believe we need to have EDS (or joint hypermobility to have POTS — we had a patient in the office just last week with NO hypermobility, but a clear case of POTS). As you’ll read, many of us have problems with histamine-producing cells, including mast cells, but I do not believe that mast cells are the only (and perhaps not even the primary) cell causing problems. I’m so glad that you have the book, because we spend a lot of time explaining the role of undiagnosed intracranial pressure problems (of which you seem to have symptoms). Evaluating/treating this may offer you some immediate relief. Let us know? 😉
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