I caught up on Facebook with a blogger I had lost touch with. She had been searching and pushing for a real diagnosis for a long time as Fibromyalgia and CFS didn’t fit with all her symptoms and test results. Now she’s pretty sure she has Hypereosinophilic Syndrome.
Hypereosinophilic Syndrome (HES) is a ‘rare’ blood disorder where the eosinophil (a type of white blood cell) counts are raised and it can effect people in different ways. It can cause damage to multiple systems commonly heart, lung and neurological.
General symptoms can include (but a patient may not have all) fever, fatigue, cough, rash, diarrhea, neurological problems, nausea and vomiting, difficulty swallowing, shortness of breath, cough, cardiac symptoms and abdominal pain.
There’s a good youtube video with some real patients telling their stories.
It’s easy to see how you could be suffering with HES (considered a rare condition), and have a general practice doctor put it down to Chronic Fatigue Syndrome (CFS).
So it got me thinking.
It got me thinking about how hard this lady has worked to find a diagnosis. You could see that as desperation in a way, to not face a diagnosis of FMS or CFS, which has little in the way of treatment. But although HES can respond to treatments like prednisone it has no cure and the damage to your systems can lead to death. So it’s not exactly a condition you would choose to have!
It got me thinking about the 4 or 5 people I’ve encountered online who have been diagnosed with CFS or FMS only to have been misdiagnosed when a different underlying condition has been discovered 1-10 years (or more!) later. Not to mention the number of people I have encountered casually online who have turned out to have other conditions.
Their “real” diagnoses have included:
- Hypereosinophilic Syndrome or HES (a rare condition)
- Behçet’s disease (a rare condition)
- Chairi Malformation (a rare condition)
- Multiple System Atrophy or MSA or Shy-Drager Syndrome (a rare condition)
- Ehlers-Danlos Syndrome or EDS (a rare condition)
Maybe rare conditions are only rare because so many people get misdiagnosed with things like CFS?
So I do wonder from time to time – what if my doctor missed something?
I’ve only had the care of one doctor (who I call my Friendly GP) consistently since she diagnosed me with CFS in Jan 2007. Before that, when blood tests were being run and I was describing my symptoms, I saw 4 or 5 different doctors in my practice. I’d like to think that gave me multiple trained eyes on those test results but I’m actually left with a fragmented feeling about the whole diagnostic process. Especially those 4 or 5 GP’s were seen over the course of a year before Friendly GP finally suggested CFS to me.
This feeling sometimes manifests as a fear of discovering there is another cause to my symptoms than ME/CFS and what if there is (or was) a treatment? Is it possible to have lost 3 years to debilitating symptoms that could have been treated and controlled?
There were abnormalities in my blood tests in 2005/6 – namely that my red blood cell count was consistently high. At the time I was quite anxious about this but had the results dismissed fairly casually by a doctor as “high is probably just your normal”. I got the impression they weren’t ridiculously high – although they were high enough to repeat the test 2 or 3 times over 6 months.
He is probably right. But probably doesn’t seem quite good enough all of a sudden. Not when so much is at stake.
I did a bit of reading and found articles about raised red blood cell counts that I didn’t find back in 2006. Articles which suggest that a consistently raised red blood cell count should be investigated further to check for possible underlying causes.
These include tests I ‘ve never been given:
- measurement of iron, folic acid and vitamin B12, which are all important in red cell production
- oxygen levels in the blood
- chest X-ray to check that the lungs and heart appear normal
- ultrasound of the abdomen to check the kidneys, liver and for any increase in the size of the spleen or fibroids in the womb
There are simple explanations for high red cell counts which include being overweight, high blood pressure, dehydration, alcohol and stress. But it can also have other serious causes like kidney disease, tumours, endocrine abnormalities, liver disease, sleep apnoea, heart disease or a bone marrow disorder.
The medical name is Polycythemia.
I’m not saying I have any of these serious causes and maybe the doctors I saw were aware of further diagnostic criteria which meant they could be ruled out just by looking at me. I don’t even know if I still have a high red cell count as I’ve not had a routine blood test since.
What I am saying is I’m not sure whether these possible causes of raised red cell count were considered at all at the time. Plus questioning the decision that this was my normal and not to continue to monitor it when you factor in all my ME/CFS symptoms.
A high red cell count can actually result in a lack of oxygen being carried around the body. That could account for all of my symptoms if blood flow and oxygen levels are reduced to my brain and other systems. This extract relates to polycythemia caused by bone marrow disorder:
The excess number of cells in the bloodstream lowers the amount of liquid in your blood vessels. This makes the blood more viscous (thicker), so it flows less easily, especially through smaller blood vessels.
Many symptoms of polycythemia vera relate to the increased viscosity. Common complaints include headache, dizziness, noises in the ear, blurred vision and fatigue. In most cases, the spleen is enlarged because of the increased number of cells being recycled there.
I am not self diagnosing. I’m just wondering if I should have been referred for further investigative tests or at least further monitoring.
So I wonder, could I still have high red cell count and lack of blood oxygen to vital systems which manifests as neurological problems, headaches, fatigue and digetive problems? Or is it M.E. that causes the problem with my blood oxygen and my body tries to compensate by creating more red blood cells? Or is the red blood cell thing just normal and not a factor? Or another of a myriad of possible explanations?
It’s a bit chicken and egg.
I think about Ashy with her POTS – does POTS cause the ME symptoms, is POTS a symptom of ME or does she have POTSand ME together? And RachelM with her asthma symptoms, breathing problems and OI – do they cause some of the ME symptoms or are they a result of the ME?
I hope research can provide answers and do so fast enough to help us all.
I think it may be time to ask my friendly GP to re-run my blood tests. Question is if I ask her to look particularly at some rare conditions to rule them out will she welcome my internet research or see me as one of those “difficult” CFS patients with too much time to surf the net? Only one way to know I suppose.
Can I afford to risk missing a diagnosis for the sake of upsetting my doctor?
But then if all my symptoms were just the result of too many red blood cells wouldn’t they have spotted that? It does seem too simple an explanation to be realistic.
I’m not grasping at straws here. Because I’m not offered any tests to confirm ME it’s not unreasonable to want to feel confident that diagnostic criteria which can be ruled out are done and that my doctor looks at all possibilities.
As my own GP said “it’s important to have faith in the diagnosis” otherwise it’s very difficult to live with it.