Situations like these are common for people with conditions such as Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) and Mitochondrial Disease (Mito). In addition to the illness burden, consequences of devastating medical, financial social and psychological hardships can be profound. Although considered rare, these conditions are becoming more common. It is estimated that in the US alone ME/CFS affects up to 4 million individuals at the cost of approximately $35 billion dollars in lost productivity and health care. Adding those with mitochondrial disease and all who remain undiagnosed, the numbers are even greater.
ME/CFS and Mito: Why are they so confusing?
The conditions are similar in many ways, yet they are not the same. Mitochondrial disease expert, Dr. Bruce Cohen, explains that many individuals with Mito have chronic fatigue, “but, in all likelihood, only a small fraction of those with CFS have a mitochondrial disorder”. Sorting it out is complicated and confusing at every level, from the patient, to the physician, to the researchers. Yet no one feels the frustration more than the person living with it. It is not uncommon to be given differing diagnoses, or to have the one that seemed so certain, retracted later. However, considering the following issues, it is easy to see why these conditions are so difficult to accurately identify.
- Awareness by the physicians, and population in general, is lacking.
- Many common chronic conditions have underlying mitochondrial dysfunction, including ME/CFS, but aren’t primary mitochondrial disorders.
- Due to the spectrum of symptoms overlaps are prevalent even when distinctions are made.
- Combinations of symptoms may or may not be present and they also vary for the individual at different times.
- It is difficult to isolate features that would qualify an individual as having a specific condition.
- No definitive diagnostic test is available.
- Medical community can’t agree on a name to identify condition to be researched (i.e. ME/CFS)
- Funding for research is limited.
- Disorders that mimic mitochondrial disease may interfere with proper diagnosis.
ME/CFS: In order to isolate specific criteria by which a diagnosis can be made, a global task force was assembled in 1994. The International Chronic Fatigue Syndrome Study Group reached a consensus with ME/CFS, yet it was later realized that gastrointestinal issues and post-exertional fatigue were missing. The inclusion of ME was also met with resistance, as some felt it caused more confusion. Regardless, it is not uncommon to see either CFS or ME/CFS used interchangeably in the research. With continuing pressure to characterize CFS more accurately, the nomenclature was revised again. In 2015, the name “Systemic Exertion Intolerance Disease” (SEID) was established, although the validity and reliability of the definition remains under scrutiny. A more extensive modified description can be found elsewhere, however, the basis of the 1994 criteria remains as follows:
In addition to having severe disabling fatigue unresolved from rest and that is not attributable to any other condition and lasting over six months, four of the following characteristics must be present:
- Impaired memory and cognitive function (brain fog)
- Sore throat
- Tender lymph nodes
- Joint or muscle pain
- Orthostatic intolerance (symptoms are worse when standing)
- Headaches of a different nature
- Unrefreshing sleep
- Post-exertional malaise (fatigue after activity, often lasting more than 24 hours)
Mitochondrial Disease: Whereas the United Mitochondrial Disease Foundation (UMDF) recommends considering mitochondrial disease when three or more body systems are affected, symptoms themselves do not lead to a certain diagnosis. There are over one hundred known primary mitochondrial diseases for which a combination of biochemical tests, diagnostic imagery, genetic testing, family history, and often a muscle biopsy, are necessary to identify. Symptoms are included as a way to a match the findings with a previously identified disease presentation. Elevated lactic acid levels at rest, ragged red muscle fibers, organic acids test, and are some of the common identifiers coupled with having multiple bodily systems affected. Although the list is longer, some common symptoms include:
- Debilitating fatigue- feels like the flu
- Exercise intolerance with delayed onset of fatigue lasting more than 24 hours.
- Cognitive dysfunction, i.e. brain fog & memory loss
- Muscle and nerve pain
- Gastrointestinal issues, i.e. dysmotility
- Unrestful sleep & insomnia
- Headaches that are unusual
What about treatment?
Since Mito and CFS are multi-faceted conditions, developing a team to tend to the broad spectrum of issues is a common and beneficial approach. It is important to find professionals you consider to be knowledgeable and trustworthy, as there is a wide range of perspectives within the medical community. Though individual recommendations vary, the literature recognizes the importance of mitochondrial support, gut health, nutrition, sleep, and movement for CFS and mitochondrial disorders. Both patient populations have a high prevalence of impaired stress response, or dysregulated Hypothalamus-Pituitary-Adrenal (HPA) axis. The term “adrenal fatigue” is often used to describe the consequences of HPA dysfunction, although it isn’t as accurate as the scientific term. Without going into the many ways stress exacerbates symptoms, research studies clearly indicate stress minimization and a positive outlook (as much as possible) lead to better outcomes. Connecting with others who are also living with these health issues can be helpful in relieving the isolation that often accompanies them. It all takes time, but progress can be made with effort and support.
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