In the article, Understanding Chronic Fatigue Syndrome And Myalgic Encephalomyelitis (CFS/ME), I introduced you to Philip who – like many other sufferers of CFS/ME – had his life turned upside down by this debilitating and challenging syndrome.
The debate about the cause of CFS/ME continues to grow: are the symptoms a physical manifestation of a problem in the brain such as a chemical imbalance; is sustained stress or exertion to blame; or is CFS/ME the result of abnormal physiological functioning, with an organic cause, such as a viral or bacterial infection, or exposure to a toxic agent?
Yet there still is no clarity, which leaves many CFS/ME sufferers pulling their hair with frustration. Adding to their frustration is the fact that there have been no specific diagnostic tests that can help diagnosis of CFS/ME. As we know, diagnosis is crucial to determine treatment.
For this reason, I have decided to deviate from writing about possible treatments for CFS/ME as planned and instead focus on the diagnosis of CFS/ME.
CFS/ME: Trial and error
Until now, there has been no objective diagnostic test that can reliably detect CFS/ME.
The normal protocol in making a diagnosis is for doctors to perform multiple tests to rule out conditions with similar symptoms, including chronic infections such as tuberculosis, mononucleosis or Lyme; fibromyalgia; autoimmune diseases such as multiple sclerosis and lupus; or psychiatric/emotional conditions. (A diagnosis of depression does not exclude the possibility of CFS/ME.)
Secondly, doctors need to evaluate the patient following these guidelines:
Unexplained persistent fatigue that’s not due to ongoing exertion and which is not substantially relieved by rest, is of new onset and results in a significant reduction in previous levels of activity.
Four or more of the following symptoms are present for six months or more and must not have started before the fatigue:
- Impaired memory or concentration
- Post-exertional malaise (extreme, prolonged exhaustion and sickness following physical or mental activity)
- Unrefreshing sleep
- Muscle pain (myalgia)
- Joint pain without swelling or redness
- Headaches of a new type or severity
- Sore throat that’s frequent or recurring
- Tender cervical or axillary (armpit) lymph nodes
While they’re not required for a diagnosis of CFS/ME, a complete list of your symptoms can help your doctor diagnose you. It’s helpful if you first become familiar with the full range of CFS/ME symptoms and then start keeping a symptom journal.
CFS/ME: Light at the end of the tunnel
As you can see from the above guidelines, diagnosis of CFS/ME could be a prolonged process and is very much a hit- and-miss scenario. It ??s no wonder that some researchers, advocates and CFS/ME sufferers believe the criteria are inadequate.
However, thanks to a genomics study lead by Dr. Jonathan R. Kerr, of St. George’s University in London a diagnostic test for CFS/ME could be on its way.
When the researchers compared the blood from CFS/ME sufferers to that from healthy donors, they detected genetic abnormalities in each case of the CFS/ME group. Up to 88 different genetic differences were detected, from producing different levels of proteins and other molecules to difference in how these genes interacted with other genes, their disease associations and their affects on molecular and cellular function.
Detecting these genetic differences allowed the researcher to isolate subtypes of CFS/ME. The subtypes were grouped according to their clusters of symptoms and severity. In total 7 subtypes of CFS/ME were isolated:
Subtype 1: Effects are cognitive, musculoskeletal, sleep-related and anxiety/depression.
Subtype 2: Effects are musculoskeletal, pain and anxiety/depression.
Subtype 3: Mildest symptoms of fatigue and muscle pain.
Subtype 4: Cognitive issues.
Subtype 5: Effects are musculoskeletal and gastrointestinal.
Subtype 6: Dominated by post-exertional malaise (extreme crash after exercise or exertion.)
Subtype 7: Effects are pain, infections, musculoskeletal, sleep- related, neurological, gastrointestinal, neuro- cognitive and anxiety/depression.
Subtypes 1, 2 and 7 were the most severe, and subtype 3 was the mildest.
Because the genomic analysis was performed on CFS/ME sufferers, they all had persistent fatigue. Therefore, all of the subtypes include fatigue.
Dr. Kerr emphasizes that each subtype is a distinct clinical syndrome and should be treated as such. This is the first study to identify these genomic subtypes and more research is needed before the information is put to use in diagnosing or treating people with CFS/ME.
The study also found that:
- Many of the abnormal genes are ones that researchers know can be affected by viral infections, which are a predominant trigger of many CFS/ME cases.
- Treatments that are already available for other diseases target five of the 88 genetic abnormalities, meaning potential treatments for some subtypes may already be available.
- The team is now looking into whether abnormal protein levels are detectable in the blood, which could be considered as biological indicators of CFS/ME for diagnostic tests.
Finding concrete genomic differences between people with CFS/ME and healthy people is one more piece of biological evidence that CFS/ME is not a psychiatric condition but a physiological one. This could help eliminate the stigma and scepticism often faced by people with the condition.
CFS/ME: A wee bit closer…
To illustrate how diverse and wide even the research is in finding at least a specific diagnostic tests for CFS/ME, Professor Kenny De Meirleir of the Vrije Universiteit Brussel, Belgium, believes he has identified a mechanism to explain the development of CFS/ME that opens up new treatment options.
Prof De Meirleir, in collaboration with a microbiologist, Dr Henry Butt, and his team at the University of Melbourne, has focused on bacteria in the gastro-intestinal tract. Many CFS/ME patients suffer from multiple intestinal symptoms, and Prof De Meirleir believes that an overgrowth of “bad” bacteria, including enterococci, streptococci and prevotella, is to blame. These bacteria are normally present in very small quantities in a healthy gut, but can initiate a sequence of events leading to the diverse symptoms of CFS/ME if they multiply.
These “bad” bacteria produce hydrogen sulphide (H2S) – a gas naturally occurring in the body, where it has several functions – in minute quantities. However, according to Prof De Meirleir, in larger quantities, H2S is poisonous and suppresses the immune system, and damages the nervous system. (H2S is produced by some animals in preparation for hibernation because it “shuts down” the body which, in effect, is what occurs in CFS/ME.)
In addition, Prof De Meirleir believes H2S reacts with metals, including mercury, which disrupts the normal production of energy (known as the Krebs Cycle) by individual cells, which could explain the energy shortfall experienced by CFS/ME sufferers.
As a result, Prof De Meirleir now has developed a urine test which detects the presence of H2S metabolites, which confirms the presence of abnormal quantities of H2S- producing bacteria. The intensity of the colour change in the urine indicates the severity of the disorder.
Of this Prof De Meirlier said: “What we have shown is that these patients have an organic disease involving one of the most toxic substances [H2S] that exist.”
So what causes the proliferation of harmful bacteria in the first place?
According to Prof De Meirlier there are many potential triggers ranging from food borne bacterial (e.g. salmonella) infections, viruses, and toxins, or mental stress. He says many CFS/ME sufferers have a history of gut disorders including gluten and lactose intolerance, which may predispose them to colonisation by enterococci and streptococci.
Well, there you have it: Two very different approaches in an effort to find accurate diagnostics for a disorder that affects almost a quarter million Britons. At least the efforts of Dr. Kerr and Prof De Meirlier are focussed and specific and perhaps the answer for an objective diagnostic test lies in a combination of their tests.
When I started to write about CFS/ME , little did I realise it is a topic that lends itself to hours of discussion and that begs for more research and understanding. Your comments and emails have been a great help to me and to people affected by CFS/ME. Keep an eye out for the upcoming article on possible treatments for CFS/ME, which should be featured in the next two weeks.
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The 7 Genomic Subtypes of Chronic Fatigue Syndrome by Adrienne Dellwo, published online 26.01.09, chronicfatigue.about.com
Seven genomic subtypes of Chronic Fatigue Syndrome / Myalgic Encephalomyelitis (CFS/ME): a detailed analysis of gene networks and clinical phenotypes, by Dr. J. R. Kerr, Dr. B. Burke, Dr. R. Petty and Dr. J. Gough, published Journal of Clinical Pathology 2008, jcp.bmj.com
ME: Proof that it isn’t all in the mind? by Liz Hunt, published online 01.06.09, telegraph.co.uk