Tag Archives: POTS

Toolkit for GPs

This is just a quick post to say that an excellent, comprehensive and easy to understand toolkit on Ehlers-Danlos Syndrome aimed at primary care/GPs is available on the British Royal College of Physicians website.   Not only does it cover hEDS in detail it also has excellent information on MCAS and POTS in the ‘Emerging Major Associations’ section – hurrrrah!  Maybe now we might start to find Doctors in the UK who have at least heard of these three disorders and the more people who are diagnosed the less “rare” they will all become.  Because we know they’re not rare don’t we?!

It’s been interesting reading through all the info and I’m definitely sending the website link to the Eye Consultant I saw at the hospital this week and my GP just in case she hasn’t got the memo.

 

 

Advertisements

The Disease Trilogy

Well, it’s actually a disease quadriology but that didn’t sound quite as good 😉  What on earth am I rabbiting on about now you ask yourself?  Good question, and one I ask often lol!  I’m talking about:

MCAD, hEDS, POTS & M.E. 

which we now know, in some patients, have a bad habit of occurring together.

Mast Cell Activation Disorder/Syndrome (MCAD/MCAS) is a fairly rare disease, although not as rare as previously thought.  There are no statistics available, but mast cell disease is estimated to affect roughly 1 in 2000 people.  When the patient has hypermobile Ehlers-Danlos Syndrome, however, this shoots up to an estimated 1 in 10.  There is obviously something about having hEDS which affects our mast cells in a way that isn’t seen in the rest of the population, which is why I can get arsy about non-EDS patients talking about ‘curing’ or treating MCAD like it applies to everyone – their disease pathway is not the same as my disease pathway.  This is important.

We don’t yet know why people with hEDS are massively more at risk of also having MCAD, but Professor Anne Maitland (Immunologist specializing in hEDS +MCAD) has the following theory: mast cells live in connective tissue.  In hEDS the connective tissue is faulty and in some patients this leads to incorrect messages being sent to the mast cells, making them behave inappropriately.  Dr Maitland is brilliant and in 2016 did a free webinar on hEDS and mast cell disease which is well worth a listen.

On the flip side, MCAD can affect our collagen and make it more stretchy.  I’ve had people comment on my blog that treating their MCAD has ‘cured’ their hEDS and, while I’m happy for them, they are mistaken.  hEDS is much more than having flexible joints so if that’s the only symptom you have you didn’t have hEDS in the first place.  You had lax ligaments as a symptom of MCAD, so treating your mast cells will have had a beneficial impact on your over-bendy joints.

To clarify: in patients with MCAD minus hEDS, misbehaving mast cells make otherwise normal collagen faulty.  In patients with MCAD plus hEDS, faulty collagen makes otherwise normal mast cells misbehave.  So in the first instance, the mast cells are driving the disease, whereas in the second instance the collagen is driving the disease.   In those patients without hEDS, if you can get the mast cells under control the collagen should improve.  But in patients with hEDS there is no effective treatment for the underlying collagen disorder, and without that the mast cells are going to remain overactive.  Yes, hEDS patients can still take mast cell stabilizing drugs but although that may help to control the overactive mast cells it won’t ‘cure’ MCAD, because the mast cells are being driven by faulty collagen for which there is as yet no effective treatment.   I hope that makes sense because I’m ridiculously brain fogged today!

There is increasing recognition amongst doctors in the know that POTS (postural orthostatic tachycardia syndrome) can go hand in hand with MCAD and hEDS and in 2015 a small research study was carried out by Dr Vadas on this very subject.  An estimated 80% of hEDS patients will have POTS and an estimated 1 in 10 of those will also have MCAD, so it’s not an insignificant issue.  Quite why some people have all three diseases no-one knows, but it is a subject a small handful of Doctors are thankfully looking into.  I personally don’t have POTS (ie an increased heart rate when I stand) but I do have Orthostatic Intolerance whereby standing and even sitting for any length of time makes me feel ill, faint, weak and very mentally confused.  There is a good article on both POTS and OI here.

What’s being left out of the current research is the link between hEDS, POTS, MCAD and M.E.  “Chronic fatigue” is talked about but chronic fatigue is not M.E. (although I appreciate M.E. is called CFS in the States).  Most people with M.E. have orthostatic intolerance or POTS – it’s a characteristic of the disease.  And, as my readers know, I think M.E. is a type of mast cell disease.  My reasons for thinking this are:

  • M.E. follows a viral infection.  Mast cells can be chronically activated by viruses.
  • M.E. has many hallmark symptoms of MCAD, in particular fatigue (mast cells affect the mitochondria), brain fog, problems with cognition, sense hyper-reactivity (ie light, sound, touch) and we now know that the sensory part of our brain called the Diancephalon contains mast cells, ‘allergies’ (the more severe the M.E. the more allergic-type symptoms such as reactions to smells, pollens, chemicals, drugs, foods), muscle twitching/dystonia (mast cells affect smooth muscle contraction), IBS-like symptoms (our GI tract is packed with mast cells), pain (mast cells live next to sensory nerves), sleep disturbance (mast cells affect the sleep/wake cycle).
  • Worsening symptoms at menstruation and menopause (mast cells react to hormones),
  • Improvement during pregnancy.
  • Improvement in symptoms have been seen in some M.E. patients when taking high dose Vitamin C or Tricyclic antidepressants (both are used to treat MCAD).
  • Recent research has shown the drug Rituximab can help in M.E.  A similar cancer drug has been found to be helpful in treating MCAD.  Both drugs work on b cells.
  • Stress worsens M.E. (mast cells live close to nerves, in particular the nerves which release corticotropin-releasing hormone (or CRH). CRH is a hormone which is released in the ‘flight or fight’ reaction when the body is under stress).
  • See more about M.E. and mast cells in my Canary post.

There is a recognized subset of M.E. patients who also have hEDS, and nearly all have either OI or POTS.  In addition, there is not a single one of my many moderate/severe M.E. friends who don’t have some kind of allergy, whether it be asthma, gut issues, food intolerance, drug or chemical intolerance and none of us can tolerate alcohol.  This, alongside the symptoms listed above, scream Mast Cell Disease to me and I wish it were something researchers would look into.  Even if they just tested for mast cell mediators in severe M.E. patients it would be a start and I’d be very interested in the results.

The good news is that things have come on a long way in just the 7 years I’ve been diagnosed with hEDS and there is increasing recognition that collagen disorders, dysautonomia, mast cell disease and M.E. are in some way linked, at least in a subset of people.  This hasn’t filtered down to your average Consultant or GP, so please don’t expect your local hospital or doctor’s surgery to know anything it, but for those health professionals specializing in either MCAD or hEDS they are definitely aware of the link (even my local Rheumatologist knew that hEDS patients often present with MCAD, so if the knowledge has made it to the wilds of the lake district there is hope for everyone 😉 ).

 

 

 

Dysautonomia Appointment

Newcastle-upon-Tyne has a leading ME/CFS Research centre (see their Facebook page) based in the Biomedical Research Building at the site of the former Newcastle General Hospital, now the Campus for Aging & Vitality.  The Research is headed by Professor Newton, who specializes in fatigue (see their fatigue research website here) and the autonomic nervous system in particular Postural Orthostatic Tachycardia Syndrome (known as POTS).

During my early years of M.E., when I was severely affected, I had huge problems with Orthostatic Intolerance, ie. an ability to sit or stand upright without feeling dizzy, ill or fainting.  Thankfully as my M.E. has improved, and in particular the past 2 years as I’ve been able to start walking again, my ability to remain upright without wanting to pass out has improved substantially, at least in the early part of the day although I tend to go downhill mid-afternoon.

However, I’ve developed new problems with my heart beating irregularly particularly after eating and when changing from sitting to lying down, and due to my age, my long years of inactivity, and the fact that Ehlers-Danlos can cause heart issues this needed to be investigated.  I feel like my heart skips a beat, then I get a strong pounding beat, which causes the veins in my head to throb!  It’s quite unpleasant, even though I’m sure it’s nothing much to worry about.

Since contracting meningitis in 1996 I’ve also had constant, painful, pins & needles in my hands and the soles of my feet which I suspect may be peripheral neuropathy.  The sensation doesn’t come and go, but does have days where it’s more intense than others.  No-one has ever explained what this is and any doctors I’ve mentioned it to have just looked blankly at me and moved swiftly on!

So my appointment at the POTS clinic today was to address my heart rhythm abnormality, my pins & needles, and to assess whether I still have POTS or OI.

I had a short ECG done, which measures electrical activity in the heart.  This was normal (it always is!), but being as though my heart is usually worse after eating and in the evening when I’m relaxing Professor Newton decided that 24 hour (or longer) heart monitoring was needed.  She thinks I’m suffering from Ectopic heartbeats, which are usually benign and nothing to worry about, but we still need to know for sure.  She is referring me to my local hospital to have this done, so I’ll just have to wait for an appointment.

My pulse and blood pressure were measured both lying down for 5 minutes, then standing for 5 minutes.  All was fine and there was no substantial drop in blood pressure or rise in heart rate which would indicate POTS.  I didn’t expect anything to show up because I’m always at my best in a morning (my appointment was at 10am), but get progressively worse as the day wears on (it’s now 3pm and I’m in bed because being upright makes me feel rubbish).  The 24 hour heart monitor also measures blood pressure, so I’m hoping that a more accurate picture of any orthostatic issues will show up on that.  As it was, because my 10 minute test was fine Professor Newton didn’t think there was any need for a tilt table test (the gold standard test used to diagnose POTS).

We discussed my pins & needles and Professor Newton had no idea what the cause was.  So she’s referred me for an Electromyogram and nerve conduction test which measures the electrical activity of muscles.  I’ve heard that this test can be excruciatingly painful, so the thought of having one doesn’t do much for me!  However, I need to know what’s happening with my nervous system so I’ll just have to grit my teeth and get on with it.  Luckily this again can be done at my local hospital.

At the end of the appointment I was asked if I had any questions.  I told her about my chronic low blood pressure, and the fact my diastolic pressure becomes ridiculously low during menstruation which makes me feel absolutely crap.  She said that because I had a very ‘clean’ vegetarian diet and don’t eat processed food I wasn’t getting enough salt and I needed to increase that, but didn’t tell me how or by how much.  I was also told to drink 2 litres of water a day, which just made me laugh – the combination of permanent piddling due to my MCAD and the stretchy bladder of my EDS would make drinking that much water impossible without being permanently glued to my loo!  I just nodded politely and thought “dream on ” to myself, even though I know the advice was correct.

I’m not entirely sure what I thought today’s appointment would be like, but it was nothing like I’d imagined.  She’d read the notes sent by my GP and Consultant, but asked me nothing about my illness history or really anything about my symptoms, which I found quite odd.  And I did think it would take more than a 10 minute blood pressure reading to determine if I had some kind of dysautonomia!  But she’s the expert, so you have to trust her judgement.  The appointment must have lasted a massive 8 minutes from start to finish and I felt rushed, which made me feel flustered.  I thought at least I might get to talk to her about my EDS and MCAD, and how I feel these tie in to my M.E., but there was zero opportunity or time.  Worth travelling 180 miles for?  Time will tell.  At least all the staff, including Professor Newton, were really nice (well, apart from the receptionist who looked like her face would crack if she smiled) which trust me when I say is unusual because over the years I’ve met more stony faced, miserable, disinterested and arrogant medical staff than you can shake a stick at 😉

I’ll keep you posted on the tests as and when I hear anything.

EDS v M.E. v POTS

It’s staggering the difference a continent makes.  I’m on an American Ehlers-Danlos Syndrome (EDS) forum where no-one has ever heard of Myalgic Encephalomyelitis (M.E.).  I’m also on a British EDS forum where many people have either had, or still have, a diagnosis of M.E. alongside their diagnosis of EDS (as I do).  And on the Dysautonomia forum DINET, there are people with a primary diagnosis of POTS whose symptoms are indistinguishable from M.E. and in some cases EDS.

And then there is the mast cell connection: mast cell disease is quite routinely diagnosed in people with EDS in America, but never diagnosed in people with EDS in Britain.  It’s also talked about a lot on M.E. forums in Britain, but again not diagnosed as so little seems to be known about it here in the UK.  So what’s going on?  I wish I knew!

There is an overlap of about 90% between the symptoms of EDS, M.E., Dysautonomia (usually POTS), and Mast Cell Disease.  The most common overlaps are:

  • Widespread pain/fibromyalgia for which no reason can be found on scans or X-rays.  Also neuropathic (ie nerve) pain.
  • Muscle weakness.
  • Chronic Fatigue.
  • Sleep disturbance.
  • Migraine/chronic headache.
  • Brain fog.
  • Problems with memory, concentration, information storage/retrieval, word finding and other cognitive functions.  New-onset dyslexia or problems with spelling and/or numbers.
  • Low blood pressure.
  • Orthostatic intolerance.
  • Nausea and/or vomiting.
  • Gastro-intestinal issues: IBS-like symptoms, slow/fast motility, pain, cramping, early satiety, GERD (reflux), bloating, swallowing difficulties.
  • Dysmenorrhea/hormone problems.  Increased incidence of endometriosis.
  • Frequent thirst.
  • Frequent urination.
  • Cold hands & feet/Reynauds Phenomena.
  • Periods of tachycardia, skipped heartbeats, pounding/strong heartbeats but usually with normal ECGs.
  • Shortness of breath, chest pain for which no abnormality can be found.
  • Anxiety (not mentally induced).
  • Drug sensitivities or drugs not working properly.
  • Food allergies/intolerance.
  • Muscle twitches.  Muscle spasms.
  • Restless Leg Syndrome.
  • Numbness.  Pins & needles.
  • Changes in body temperature: cold when it’s hot, hot when it’s cold.
  • Blurred vision, problems with focal adjustment (short to long distance and vice versa), other eye issues.
  • Sensitivity to noise and/or light.
  • Feeling ‘wired’.

H-EDS, M.E. and MCAD are diagnosed by exclusion, based on symptoms and medical history (though occasionally MCAD will show abnormalities).  The only disease for which a diagnostic test is available is POTS, yet one can have POTS and still also have EDS, MCAD and/or M.E.!

So, what about the differences?

  • In H-EDS, there is joint hypermobility.  This is absent in MCAD, M.E. and POTS.
  • In EDS there is skin involvement, ie. skin fragility, stretchiness, easy bruising, velvety feel.  This is absent in M.E., though easy bruising has been reported in both MCAD and POTS.
  • In EDS, a hot bath is often beneficial. In M.E., POTS and MCAD a hot bath often makes things worse.
  • Pregnancy often makes EDS worse, whereas it can temporarily improve M.E. & POTS (not sure about MCAD).
  • M.E. usually follows an acute immune system attack, eg. catching flu or being vaccinated, although trauma has also been known to be a trigger.  Infections can also trigger both POTS and MCAD in some people.  EDS is genetic but can be a-symptomatic until, in some people, an infection or trauma triggers a symptom flare.
  • In M.E. there is post-exertional malaise, not just fatigue.  This means you feel like you have a dose of flu following exertion, sometimes with even minimal activity like dressing.  The malaise is often delayed, and can appear 24-48 hours after the activity.
  • In M.E. fatigue is not relieved by rest.  In EDS & POTS, fatigue is relieved by rest.  In MCAD, fatigue is absent for some people, though in others can be significant.
  • In M.E. there are on-going immune-activation symptoms, such as sore throat, malaise (ie. feeling poorly), fevers/chills and intermittent tender/swollen lymph glands, which aren’t seen in EDS, POTS or MCAD.
  • In MCAD, anaphylaxis in varying degrees is widespread, but not found in M.E., POTS or EDS. Or maybe it is seen in both M.E. and POTS, but just not diagnosed as being anaphylaxis because it presents as chronic, and not the more common acute, type of onset?
  • In MCAD, hives and histamine-related oedema (swelling) is widespread, but not found in M.E., POTS or EDS.
  • In MCAD, Dermographism is common but not found in M.E. POTS or EDS.
  • Flushing is common to both MCAD and POTS, but not seen as a symptom of M.E. or EDS.

Both M.E. and MCAD can be life-threatening diseases.  H-EDS is not, although other types of EDS (such as Vascular) are.  I’m unaware of any deaths being officially attributed to POTS, though they may exist.

When you look at the evidence, the common symptoms between these diseases far outweigh the differences.  I have no idea why M.E. isn’t diagnosed in America as routinely as it is in Britain – there are certainly people on both the EDS and DINET forums who have post-exertional malaise and who would fit the International Consensus Criteria for M.E..  I also have no idea why a diagnosis of primary POTS is much more common in America than the UK, where POTS is usually diagnosed as a secondary symptom in conditions such as EDS and M.E..  And why should MCAD be more common in both EDS, POTS and M.E.?

The Elephant Project is a world-wide initiative which is looking at the link between EDS, Dysautonomia, M.E. and Mast Cell Disease.  Diana Driscoll is also looking at the symptom overlaps – you can fill in her questionnaire here.  One thing is for sure – the similarities between these illnesses can’t be mere coincidence.