Glad to see another paper coming out that shows the appalling misdiagnosis rate amongst people diagnosed with CFS, hopefully it will lead to some action to remedy this sad state of affairs.
As I see it there are several reasons for this mess happening, one, Doctors are being allowed to use CFS as a dumping ground for patients that they cant easily diagnoses. And are not forced extensively testing patients to rule out other conditions.
Two the guidelines set out to rule out other diseases in the likes of NICE are faulty, although it is good to see that the authors of this study have gone beyond the NICE guidelines, and have picked up a few cases of Vitamin D deficiency, which NICE doesnt mention, (although they have only picked up four cases which makes me think that they must be using the out of date reference ranges) The use of out of date reference ranges and failure to include other common conditions to be ruled out in the likes of the NICE and CDC guidelines is a major reason why so many people are miss diagnosed, even if doctors follow NICE to the letter they are guaranteed to misdiagnose patients with CFS
This article explains some of the major faults in the NICE guidelines NICE and CDC miss the boat Shirwan a Mirza
http://www.bmj.com/content/335/7617/446?page=2&tab=responses
Chronic Fatigue Syndrome: NICE and CDC miss the boat
31 August 2007
The recent "NICE" guidelines in the UK like their sister guidelines
from the U.S. Center of Disease Control (CDC) on this side of the Atlantic
both miss the boat.
I have seen and analysed hundreds of cases of chronic fatigue over
the past decade without ever having to use the term Chronic Fatigue
Syndrome (CFS).
The problem with these guidelines is that they either omit major causes of
fatigue or make flagrant misguided mistakes such as the following NICE
statement:
Vitamin B12 deficiency and folate levels should not be carried out
unless a full blood count and mean cell volume show a macrocytosis.
Vitamin B12 deficiency (or insufficiency) is extremely common even without
macrocytosis.
Macrocytosis is a very late sign of this vitamin deficiency.
Furthermore, a concomitant iron deficiency, such as in celiac disease,
would cancel out macrocytosis and the resultant mean corpuscular volume of
the RBC would be normal.
The reference range of vitamin B12, at least in the USA is outdated
and new reference ranges should be implemented (300-1000 pg/ml).
It is very common to miss mild vitamin B12 deficiency without checking
either homocysteine or methylmalonic acid or both. The latter 2
metabolites would be both elevated when serum B12 is insufficient. Even if
B12 level is 300 pg/ml but homocysteine or methylmalonic acid are elevate,
a diagnosis of B12 insufficiency should be made and the fatigued patient
must be treated.
Vitamin B12 is a very common cause of fatigue, malaise, dizziness and
vertigo in people labeled with the diagnosis of CFS.
Vitamin D deficiency is extremely common above the latitude 0f 36 in
the USA. It is even more common in Europe where milk is not widely
fortified with vitamin D.
The daily requirement of vitamin D of 400 IU a day is a thing of the past
but still promoted as if written in stone.
The recent research-supported daily requirement of vitamin D is at least
1000-4000 IU a day.
25 Hydroxy vitamin D should be between 32-100 ng/ml (see a recent NEJM
review on vitamin D by Michael Holick).
25% of the US population have metabolic syndrome. Many of these have
impaired fasting glucose or impaired glucose tolerance (IGT). These pre-
diabetic conditions cause fatigue via glycosuria. Fasting glucose
measurement is not nearly sufficient to detect early glucose intolerance.
A 2-hr glucose tolerance test (OGTT) is abosoluitely necessary to detect
IGT defined as plasma glucose of > 130 from 30 minute- 120 minute
during OGTT.
Many patients with CFS have benign positional vertigo and they dont
know it.
They are basically unable to describe their symptoms and for lack of
expression they say they are fatigued. In one such case the Romberg test was abnormal and symptoms resolved within 7 minutes of application of the Epley maneuver. I have yet to see a guideline on CFS that is complete.
It is a good point that NICE mentions ferritin level, although I prefer
iron saturation since ferritin is an acute phase reactant and could be
falsely elevated during periods of acute illnesses due to any cause such
as infection.
Screening for celiac disease was also a good addition since this disease
is relatively common in Caucasians (1% of populations with an average of a
decade of late diagnosis due to lack of awareness). Addition of sleep
apnea is also a step in the right direction.
I also recommend addition of free T4 to TSH (at least once) so you dont
miss central hypothyroidism. Serum early morning cortisol should be
measured in every patient with CFS.
If a male person has sexual dysfunction such as poor libido and erectile
dysfunction, muscle weakness and infrequent shaving of beard, a free
testosterone by dialysis method plus LH measurement are necessary
In summary, for me a patient with CFS is a patient who has not been
adequately investigated despite adherence to big- name guidelines of NICE
and CDC.
A thorough and guided investigation would yield the diagnosis in almost
> 90% of patients.
By adherence to my own time-honoured investigation, I have succeeded
in abolishing chronic fatigue syndrome from my medical vocabulary.
References:
Holick MF.
Vitamin D deficiency.
N Engl J Med. 2007 Jul 19;357(3):266-81
Competing interests:
None declared
So we have a situation where a lot of doctors are giving a CFS diagnosis without following the NICE guidelines and even if they do, they are still going to miss diagnoses a large number of patients with CFS because the NICE and CDC guidelines on how to rule out other diseases are faulty!!!
The third cause of this problem is the criteria for CFS, which are all including the new ICC incapable of properly diagnosing with 100% certainty an ME patient, for the simple reason that they all rely on a set of symptoms, which every ones the different criteria chose to make the diagnosis. This will never work because ME causes a large number of symptoms which overlap with a large number of conditions. Saying that having something like PENE proves that you have ME is false, it is found in other conditions, and there have been cases even in the middle of ME epidemics were the doctors were convinced that the patient had ME, but they turned out to have conditions like Addisons and Wilsons disease. The exception to this is the Hyde criteria because he uses the likes of SPECT scans to confirm the diagnosis, I must admit I was more than a bit disappointed that the ICC hasnt included any of the tests that ME patients have been shown to fail in their criteria to confirm the diagnosis, especially with G Brodericks reply to Van Der Meer and Lloyd stating Tilt tests can identify orthostatic intolerance (OI) [2022]. The use of 24-h Holter heart monitors and cardiac MRS can identify abnormalities in heart function [2326]. SPECT scans can identify cerebral hypoperfusion, and other brain imagery tests can identify additional brain abnormalities [2731].
If these tests were included in the ICC as a part of the diagnostic procedure then it would be a lot more accurate and make it a scientifically measurable illness, that would make it a lot easier to get patients properly diagnosed and researched.
But at present no matter which of the main criteria is used, its still largely a guess that the patient has ME, and people are going to be misdiagnosed and suffer needlessly.
The solution is to gather together some of the worlds leading diagnosticians, who are up to date on modern research and right a comprehensive manual on how to test for and rule out all fatigue causing illnesses, that doctors must follow before they can give an ME diagnosis, if they want to say it is a diseases of exclusion, then they need to exclude other diseases before anyone can get the diagnosis.
Interestingly this entire mess was predicted in the 1950s by Drs DA Henderson and A Shelokov who invented the US name for ME Epidemic Neuromyasthenia In the article by Dr DA Henderson Reflections on Epidemic Neuromyasthenia
http://cid.oxfordjournals.org/content/18/Supplement_1/S3.extract
In which Dr Henderson states As we saw it, efforts to study individual cases of the syndrome to determine etiology had two drawbacks. One was the problem of differentiating between a presumably microbe-induced illness and an array of syndromes of psychogenic origin. None of us who had carefully examined patients in an epidemic setting felt confident in being able to accurately diagnose individual sporadically occurring cases. Moreover, from are 1959 review article of outbreaks, it was quite clear that while the general characteristics of the syndrome in each of the outbreaks were similar, it was equally clear that there were distinct differences from outbreak to outbreak in the prominence or even presence of many symptoms and signs as well as in their severity. A case definition embracing characteristics of all the outbreaks would inevitably have to be so inclusive as to lack any semblance of specificity. That, parenthetically, was why we insisted on the modifier Epidemic in the proposed name for the syndrome.
It was a note of caution because we were fearful, with apparent reason, that the syndrome would otherwise become a wondrous all-encompassing diagnosis for all manner of illnesses.
And how right they were, we now have case definitions that are wondrous all-encompassing diagnosis for all manner of illnesses and millions of people are suffering needlessly because of being misdiagnosed, and nobody can find the cause of ME because the criteria guarantee mixed cohorts. Personally I think Henderson was right and that ME has so many symptoms that overlap with so many other conditions and vary so much between patients that diagnostic criteria are largely a waste of time, what is needed is to rely on properly ruling out all other conditions before giving a diagnosis, instead of relying on which ever symptom list is in which ever criteria. Personally I think a lot could be gained by going back and studying the epidemics, Im sure that it would not be too hard to track down patients from the likes of Tahoe and Lyndonville and get Lipkin to deep sequence them, I read somewhere recently that there are still samples held from the royal free epidemic, and I would imagine as it has been common practice for a long time to freeze and store blood samples from strange cases that there are still blood samples from a lot of the other epidemics that could be found and deep sequenced, being epidemics it would be more likely to find a common cause then studying sporadic cases. Until the cause or causes of ME are found, relying on the symptoms in the criteria like Henderson predicted is going to be a nightmare of misdiagnosis, as this new study shows, unless it is backed by very extensive testing to rule out other conditions.
Hopefully these new studies will lead to a change in the way people are given the diagnosis, because so many people are suffering needlessly. But unfortunately at government levels the wheels seem to turn very slowly on this subject, and common sense is very uncommon!!!!!
All the best