Chronic Fatigue Syndrome as a Mitochondrial Disease?
by David S. Bell, MD, FAAP, Editor
Dr. David Bell is a family doctor in rural Western New York, who became an inadvertent expert in chronic fatigue syndrome (CFS), also known as myalgic encephalomyelitis or ME. Early in his career, he observed the residents of his community were experiencing an "outbreak" of chronic fatigue syndrome. One by one, patients arrived at his office with flu-like symptoms (that eventually dissipated) and extreme fatigue, which lasted the duration of the year or longer. Dr. Bell systematically ruled out every possible diagnosis to conclude that these patients must have CFS, an illness without a reliable diagnostic test. His experiences inspired him to author several books, including Faces of CFS, which contains descriptions of cases from his rural community. Below is an excerpt from his April 2008 newsletter, Lyndonville News, regarding his theory on the origin of CFS based on his rigorous observations over the years, related to the underlying cause of dysfunctional mitochondria. His book can be accessed for free on his website, www.davidsbell.com.In the past week, I have seen two patients who had an exercise lactate test which showed an elevation of blood lactate after mild exercise. They were told by their physician that they had mitochondrial disease. They were advised to take some vitamins, maybe some CoQ10, and have a nice day. Not surprising, the term mitochondrial disease (MD) left these patients feeling bewildered and somewhat lost. While I agree that ME/CFS are MDs, this term needs clarification.
Until recently, when a child was diagnosed as having an MD, it was a disaster for it meant that there were major abnormalities in the nuclear DNA that regulated energy production. Without energy (ATP), it is impossible to survive. This is what most clinicians think of when MD is mentioned. These illnesses, however, do not generally apply to ME/CFS.
What are mitochondria?
Think of mitochondria as the power factories of the cell. Nearly every cell in the body usually has around 500 or so. They take in oxygen and glucose and put out carbon dioxide and ATP. Actually all you need to know is that ATP is the prime form of stored energy (battery) of the body, while oxidative phosphorylation (ox-phos) are the complex electron transport chains that do the major work. Because the mechanism of energy production is essential to nearly every cell, a defect will have symptoms in every organ system.
When to suspect mitochondrial disease
A recent review article offered a list of symptoms that suggest looking for MD. Among these symptoms are neurological symptoms, such as ataxia (loss of coordination), myoclonus (involuntary muscle jerk), and encephalopathy (disease of the brain); exercise intolerance; sensitivity to general anesthesia; and constipation. A score sheet was developed to help outline when to suspect MD and most ME/CFS patients would fall into the positive range. But remember that they are talking about "conventional" mitochondrial disorders, not ME/CFS.
There is another form of MD. In this secondary form, the primary problem is not with the mitochondria, but some other problems that mess up its function. For example, thyroid hormone is needed for successful ox–phos. With hypothyroidism (low thyroid), energy production is impaired and fatigue, weakness, temperature regulatory problems, and difficulty concentrating result.
So what is the problem?
Why has ME/CFS not been diagnosed, studied, and classified as other MDs? There are several reasons:
b) MD is usually thought of as a fixed, structural disease, while ME/CFS is a relapsing, remitting illness with some even becoming entirely well;
c) MDs are hard to diagnose, requiring muscle biopsies and detailed ox-phos testing;
d) Ox-phos testing is often normal in ME/CFS, the critical piece that has diverted attention from mitochondria;
e) Physicians are used to thinking of organ-specific diseases (liver, kidney, etc.) and mitochondria are in all cells;
f) Few physicians have taken ME/CFS seriously until recently, and research in this area has been scant.
Persons with ME/CFS, however, keep themselves at a balance point. They rest for two hours, do a half hour of activity, rest, then do more. The worse the illness, the less overall activity is possible. If an ME/CFS patient does absolutely nothing for a few days, they usually feel pretty good. But go to the shopping mall for eight hours and the crash occurs. Following this activity, the patient will experience an exacerbation of pain and other symptoms of ME/CFS that may last one, two, or three days. This phenomenon is known as post-exertional malaise. Disability lies in the inability to sustain this normal level of activity. The two-day exercise test is the first to begin to explain this phenomenon. The patients with ME/CFS in this study had a significant drop (in oxygen use); something that occurred as a result of the first day of testing and its associated activities which interfered with their ability to use oxygen on the second day, thus leading to the post-exertional malaise.