Study indicates deconditioning doesn't cause PoTS, but has a cardiac trigger

A very small, yet enlightening medical commentary about Postural Orthostatic Tachycardia syndrome (PoTS) has recently popped up.

PoTS is often -erroneously- put down to the result of deconditioning - i.e, not doing enough exercise.
It's one of the things that people with the condition (including me) find most upsetting, the thought - sometimes spoken, more often just reflected in someone's face, that it's really all our own fault.

While PoTS can be as the result of many things, for example, a chronic pain condition such as Ehlers Danlos syndrome, its effects can be utterly disabling. It ends up as a vicious circle of not being able to exercise or even stand up through the symptoms of dizziness, fainting, chest pain or nausea (among others) and that makes it even harder to get up because you're weaker through lack of moving about. This is called 'exercise intolerance'.

This explanation may be given to patients in a dismissive way - sort of, 'You've let yourself down by being lazy so just try harder, get up and you'll get better'. But how do you do that when you can't stand up in the first place? And what was the trigger for those people whose PoTS came on suddenly, at the same time as the other illness (as in my case) or just by itself out of the blue? Deconditioning does not explain this.

However two doctors have written to the journal, Pulmonary Circulation, as a follow up to another study that sparked their attention. Doctors, Svetlana Blitshteyn, MD of Buffalo's Dysautonomia clinic and David Fries, MD of the Sands-Constellation Heart Institute in Rochester, both in New York State, analysed this study on low ventricular filling pressures as a cause of exercise intolerance and dyspnea. They believe it sheds some light on the causes of PoTS saying:

Previously, a low stroke volume and decreased cardiac mass in patients with POTS have been attributed hypothetically to deconditioning. This study provides the first objective evidence that low ventricular filling pressures in patients with POTS are contrary to what would be expected in deconditioned patients—high filling pressures.

The doctors commented that the study (although small) could be applicable to the majority of PoTs patients in that, "exercise intolerance in POTS is not caused by a lack of maximum effort from the patient but that low ventricular pressures occur despite the maximum effort."

If they're lucky, patients with an autonomic dysfunction such as PoTS have non-invasive (i.e, not surgical) tilt-table tests or other cardiac stress tests, ECGs and perhaps blood tests to diagnose them. Unless you can pay privately, in the UK these tests have incredibly long waiting lists on the NHS, during which time patients are becoming more ill. Many such as myself often need to use a wheelchair to even leave the house.

My Automonic Testing

My own story illustrates how difficult life with this condition can be and I do, in fact, consider myself lucky that I am not a young woman, just setting out on life. It also shows why compassion and understanding is far more required than telling someone they just need to pull their finger out and get on the exercise bike. I'm not saying that doing nothing is the right thing either, but a huge amount of support is needed, especially if you are young with little experience of life.

For me, the wait was 18 months before I got an initial appointment. Then, a further three months before I got the tilt-table tests. Then, incredibly, TEN months before I got the results of the tests. All during this time, life was very difficult. I could only walk short distances without having to stop and sit down or, if there was nowhere to sit, to bend down to get my head as low as possible.

Of course family life continued around me, with me feeling like I was less relevant, less able to participate and altogether more useless by the day. It was probably my own fault for not trying hard enough, of course. I tried dying, but I didn't even manage to try hard enough at that. What a slacker.

When I went back, I was given a trial of Ivabradine, which had a very positive effect. My GP however, didn't want to dispense it as it was off-label and the specialist letter hadn't yet arrived (and didn't for some time). After I become quite upset, my GP relented and made out the prescription. 

Although I was told by the Autonomic clinic I would get a follow up appointment in three months, I didn't get any letters until I received one discharging me, as I had apparently failed to attend! Like I would fail to attend after all that waiting! The letter had simply not arrived.

Despite explaining this to them and speaking to my GP and to my EDS specialist, they have not yet sent me another appointment and we are now more than a year after the results appointment. In the meantime, I have taken it on myself to double the dose as it appears no one else gives a stuff whether it's working or not, so I'll just do it my way.

The Ivabradine certainly isn't perfect - not by a long shot. But it does give me more ability to move around and I have worked to increase my strength. Of course there is always the knock-on of fatigue but I'm doing as much as I can, paying for one-to-one Pilates to try to recover some strength. It's not easy, especially as I am no 20 or even 30-something, (barely even a 40-something now) and it often feels like you get through one door only to have it hit you in the back and knock you flat.

Deconditioning a result, not a cause

In their letter about the study, the doctors reiterated how people's responses to patients with this condition can often make it worse.

"Patients often feel frustrated and blamed for their illness and a lack of improvement or recovery when they are labeled as deconditioned or told that they are not putting their maximum effort, regardless of whether they are exercising routinely as part of their therapeutic regimen or have not been sick long enough to become deconditioned.
"Deconditioning can occur secondary to prolonged bed rest and chronic inactivity in patients with POTS, but appears to be not a primary underlying mechanism. Larger studies comparing the invasive cardiopulmonary exercise tests in a cohort of POTS patients vs. sedentary healthy individuals are needed to further delineate the pathophysiology and possible therapy for POTS, both in terms of tolerated exercise programs and pharmacotherapy."

This last bit means they need to do more research so they can shore up the findings and come up with improved treatment of both medication and suitable exercise programs.

Getting upright again can be done, but it is a slow progression and patients need lots of support and the funding to pay for it. For example, hydrotherapy is great, but in the NHS it usually comes in blocks as it's designed for injuries, not chronic conditions and is in short supply. I had it and it was indeed helpful but I needed someone to take me and bring me back and a day to recover as it was so exhausting. 

In my own case, and that of many others, this study's findings seem to be self-evident. In EDS, the veins and arteries don't snap shut quickly enough in standing, so blood starts to pool in the lower extremities and the heart must work harder with less blood to keep the body going. Ergo, low blood volume.

A new role

I'm delighted to say that I have taken on a new, volunteer role as UK and Europe Advisor to the new Ehlers Danlos Society, which has been formed from the US-based EDNF. Lara Bloom, formerly CEO of Ehlers Danlos UK, is jointly leading the new charity and the aim is to expand globally providing trusted information of use to patients wherever they live. I'm happy to be involved.

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The enigma of Ehlers Danlos syndrome and why it's vital to make the #InvisibleVisible

Ah, it's Ehlers Danlos Awareness Month again, hurrah, zebras unite and shake your stripes! Gently, though, we don't want any awareness-raising injuries.

EDS is a very enigmatic condition. It's rare, yet it might not be particularly rare. It's often in the papers with one case or another, yet no one has heard of it. It's a condition that makes collagen very stretchy, so it affects pretty much all the body and yet medical professionals continually fail to consider it as a possible diagnosis or to make an appropriate referral.

Let's look at these conundrums in more detail, [and make sure you read the end for a chance to donate a £1 to EDS UK and buy buying something stripy and cool for yourself!]

Is it rare, or just rarely diagnosed?

Certainly most types of EDS are rare, several extremely so, but what about Type Three, Hypermobility type?

Hypermobility in itself is not rare. Most dancers and gymnasts will be hypermobile- just ask Isobel Knight, a dancer with EDS, turned author and Bowen Practitioner. And, when you are hypermobile, you will be more prone to joint injuries.
But EDS III or Joint Hypermobility Syndrome isn't just about being a bit bendy or doing a few stomach-churning tricks with your double-jointedness. In fact, many people with EDS III aren't even especially bendy, particularly if they are older.

The thing about EDS is that it's a spectrum condition, which means that patients will all be different. Most will have one or more of a range of co-morbid conditions that stem from having dodgy collagen, any or all of which can be disabling just by themselves. These can include orthostatic tachycardia (PoTS), gastric issues like reflux or more severely, gastroparesis. Some will dislocate or part dislocate (subluxate) their joints regularly or have such instability that they need bracing or life-saving surgery. Depression and anxiety are very common and several physicians and practitioners familiar with EDS have noted to me the growing numbers of patients with both EDS and various degrees of Autism Spectrum Condition.

What EDS patients do have in common is chronic, intractable pain that can bear no resemblance to their level of flexibility. In fact, it is not uncommon for someone with EDS to be very stiff as their body attempts to stabilise itself and because chronic pain can lead to lack of activity.

It's often in the papers

Why is it that the media seem to love stories about people with EDS? See them here, in a wheelchair talking about "popping out" all over the place or there looking brave, with a naso-gastric tube. Why, even Coronation Street has an actress with EDS, Cherylee Houston. Sadly, the mainstream media often get a bit confused, cause consternation and then have to apologise. This does put EDS in the spotlight though, giving advocates a chance to set the record straight.

Added to this, if you move in certain social media circles it can almost seem that every single EDSer in the world under 30 has a Tumblr or other blog, a YouTube channel, a Facebook page or an Instagram, all of which post selfies, memes and videos about living with the condition.

I think this is as much a sign of the times as an indication that the condition is more common than thought. Why? Because EDS seems to affect mainly women. And teenage girls and young women like connecting pro-actively through social media, for what else is there to do when you're stuck at home ill than take to the internet and do your bit to raise awareness? With the number of EDSers who are on social media, it's amazing that there is anyone in cyberspace who hasn't heard of it. It's certainly a shame that more doctors don't seem to be active social media users - then it would be job done, no need for any more awareness days for EDS!

Pity us "more mature" ladies who suffered in cyber-silence and diagnostic ignorance because social media wasn't invented for most of our lives. Most of this age group will probably have been diagnosed following their child's diagnosis, have been told they have Fibromyalgia or just written off as being a "hypochondriac".

For our children, however, these dismissive reasons do not wash. We have sought answers for our sons and daughters so they receive better care and a more timely diagnosis. Hopefully.

Because of this I think it's painting a skewed picture of the prevalence of the condition, but the question remains: Despite all this media coverage, why isn't the medical profession moving more quickly to a greater understanding of the condition?

So why aren't medical professionals finding a cure?

Because of its multi-systemic nature, it's easy to mistake EDS for so many other conditions. Speaking for myself, I have experienced most of the stated symptoms of EDS III during my lifetime, just not all at once. So when you show up at the doctor's surgery with a slipped disc or depression or dizzy spells or intestinal difficulties etc, that is what you are treated for and why would anyone look any further?

It's only when they come together all at once that there is any reason to hypothesise. If you just get a lot of one particular symptom, you're quite possibly going to be misdiagnosed or just be filed in the 'medical mystery' drawer.

There is no single drug or operation that will cure Ehlers Danlos syndrome, nor is there likely to be any time soon. The main reason for this is, as I said above, it's a spectrum condition so no one solution will do.

It's also genetic, so the 'cure' is most probably in gene therapy or CRISPR - gene editing. These are controversial, highly regulated and expensive areas, so a rare condition that doesn't instantly kill the patient isn't going to be at the top of the list.

The third reason is a mixture of the above. Because of the rare and genetic nature of the EDS rainbow, no one drug will make it better so just the symptoms are tackled. Pharmaceutically speaking, this involves drugs for pain, heart regulation and gastric distress, among others. Most of these are cheaper off-patent drugs such as opiates, beta-blockers and so on. There are some newer drugs for heart regulation such as Ivabradine and Midodrine, but they were not developed for this purpose, they only suit certain kinds of PoTS and are mainly prescribed by a specialist - and you have to find one first. So, for these reasons, big pharma have little interest in driving EDS-specific drug research forward as there is little in it for them financially. There is more scope, however for drug repurposing.

Keep on raising awareness

So all these reasons above are why it is so necessary to continue to raise awareness of Ehlers Danlos and related conditions and why it is vitally important to educate medical professionals, education providers and the general public about the condition.

In particular, it is important to educate social workers that an often ill or bruised child is not always an abused child; that before they swoop in and fracture a family by removing children from their parents, they should seek professional, expert guidance as to whether the child may have an undiagnosed condition such as EDS (or other similar conditions).

So why not help illuminate, educate and make the invisible visible? Join or start a conversation on the international EDS Forum at RareConnect (anytime!) I'm there, my username is Tanushka

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Disabling effects of PoTS shown in largest ever survey and how educating health professionals can help

Postural orthostatic Tachycardia syndrome or PoTS, is a complete bastard of a condition. It doesn't kill, thankfully, but it can quite often make you feel like you have no life in you.

It can be a condition on its own or a comorbidity of another condition, such as mine, Ehlers Danlos syndrome. 

In its extreme, life-altering state, it's pretty rare and extremely misunderstood. The charity PoTS UK, has teamed up with researchers and conducted the biggest ever survey of people - mainly women - living with the condition. The research, A profile of patients with postural tachycardia syndrome and their experience of healthcare in the UK is published in the British Journal of Cardiology.

It covered causes, symptoms and treatment options. You can find the whole survey here. 

Below are a few excerpts: 

Postural tachycardia syndrome (PoTS) is a recently recognised condition that usually affects younger women, who develop symptoms of orthostatic intolerance and a persistent tachycardia on standing upright. Healthcare professionals, patients and the national patient support group (PoTS UK) together created a survey, and the responses of 779 UK PoTS patients were analysed. The most common symptoms of PoTS at presentation were the triad of fatigue, lightheadedness and palpitations. Mobility, ability to work or attend education, and quality of life were significantly restricted. Cardiologists, followed by patients, were most likely to be the first to suggest the diagnosis of PoTS. Patients waited a mean of almost four years from presentation to obtain their diagnosis and, meantime, psychiatric mislabeling was common. Advice given to patients regarding lifestyle changes was variable, and those referred to specialist practitioners for help, found practitioners had limited knowledge about management of PoTS. Increased education of healthcare professionals and improved services for patients are recommended. 

And this is key. I find a little knowledge is a dangerous thing. If a health professional has heard of PoTS, their knowledge is usually incomplete and often based on faulty assumptions, such as, "Well your blood pressure didn't change quickly enough when you stood up so it can't be PoTs," or, "We did a 24 hour ECG and you were fine," despite numerous spikes in heartbeat of more than 30bpm when just standing or walking slowly up stairs (or half a staircase).

Treatments vary depending on if your symptoms are blood pressure or cardiac arrhythmia driven. For me, I have little blood pressure response, but my EDS means my blood vessels in my lower extremities are too stretchy to constrict quickly enough when I stand. This means blood begins to pool in my extremities, my brain tells my heart it isn't getting enough oxygenated blood and so the heart races to restore the flow. I feel dizzy, light-headed, pressure in my chest from a racing heart and nausea. It can continue for a while after I sit or sometimes have to lie down after the after-effects can linger for hours. On occasion, that's not enough and I have to put my legs in the air as well - tricky if you're out! If no chair is around, you'll see me bending completely over to try to even things out. So much for 'invisible illness'. 

The report says of PoTS:  

Diagnosis is usually made by active stand test or tilt-table testing. Few treatments for PoTS have been tested in randomised-controlled trials. Patients are initially managed with increased fluid and salt intake to increase blood volume, avoidance of symptom triggers (heat, prolonged standing, alcohol, drugs that induce tachycardia or hypotension), small frequent meals (low in refined carbohydrates), graded exercise (initially in a horizontal position) and compression garments to reduce venous pooling. Drug treatment can be aimed at reducing tachycardia (low-dose beta blockers, ivabradine, pyridostigmine), vasoconstriction (midodrine), boosting blood volume (fludrocortisone, desmopressin) or for their sympatholytic effects in hyperadrenergic PoTS (clonidine, methyl dopa).

My heart rate from 69 sitting to 151bpm 15 seconds later walking slowly half way up the stairs

Interestingly, 92% of the survey respondents were female and half had an additional diagnosis, like myself, of EDS. Many reported fatigue as one of the most debilitating symptoms.

Physicians call conditions like this 'benign' - i.e, you don't die from it. But believe me it feels anything but benign; it can be utterly life-altering and not in a good way.

As for diagnosis, many were wrongly told their condition was psychological or psychiatric- "It's all in you head, dear girl." Just writing that makes me extremely cross. And the least aware and the most important to educate? Your first port of call, the family GP. The report says: 

"In only 7% of cases did the GP suggest PoTS as a diagnosis. This may be due to lack of awareness in primary care about PoTS or the non-specific and multiple symptoms that are associated with PoTS. However, it is possible to undertake a 10-minute stand test in a consulting room, and perhaps this should be considered in patients with relevant medically unexplained symptoms or chronic fatigue, especially if there is a postural link to symptoms."

The impact of PoTS is considerable, with 23% becoming wheelchair users (including me, part-time for long distances) with 37% are unable to work. I am no longer able to be 'employed' but my time is used as a freelance writer, voluntarily with Special Needs Jungle and as a Trustee of Genetic Alliance UK. I am a 'real' Patient Advocate - I live it, and I work to help others. In other words, I don't do it for a living and I can't walk away into a better job when I fancy it. 

One of my first times out in a wheelchair in 2013

The most important recommendations in the survey report are education of health professionals and the need to improve accessible and relevant rehabilitation services. It's no good saying go away and do some gentle exercise when often even getting out of bed is impossible. 

I pay for a one-to-one Pilates instructor, who completely understands the conditions I have because she is similarly affected. Her career choice has kept her mobile (most of the time!). I'm aiming for the same thing, though it is often two steps forward and one step back; sometimes two back. I have been awarded a Patient Fellowship to attend the three-day European Conference on Rare Diseases in Edinburgh in May - that's a big goal to increase my fitness for!

But even now, three years on from the onset of chronic illness and pain, depression can flip on easily, from someone's unkind or careless word from someone - another battle to guard against. As a mum of older teens with both Asperger syndrome and milder EDS, I can't just think about my own needs. If it wasn't for my husband, I wouldn't be able to manage. 

Congratulations to Leslie Kavi of PoTS UK, named as a co-author of the report. Great work and hopefully this will be printed out by as many medical practitioners as patients. If you're a patient or carer, print the report out and pass it to your GP, physiotherapist, workplace if you have one or child's school or college. They're most probably too busy to find it, so help them out with their understanding. 

The survey has many more detailed figures and much more information. Once again, find the report here: http://bjcardio.co.uk/2016/03/a-profile-of-patients-with-postural-tachycardia-syndrome-and-their-experience-of-healthcare-in-the-uk/

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