Ask the Chronic Fatigue Syndrome & Myalgic Encephalomyelitis Doctor
Dr. Lapp has written numerous articles on diverse subjects and has spoken widely, especially concerning Chronic Fatigue Syndrome and Fibromyalgia
What’s this gene defect in folic acid metabolism all about (the MTHFR gene mutation), and should I be tested?
Answered by Dr. Charles Lapp
Q: What’s this gene defect in folic acid metabolism all about (the MTHFR gene mutation), and should I be tested? Does insurance cover that test?
A: MTHFR (or methylenetetrahydofolate reductase) is an enzyme required to convert folate to methionine, which is then used in the production of necessary amino acids and other compounds. When MTHFR genes are mutated, then MTHFR is not produced well, homocysteine (thought to be involved in atherosclerosis and other health issues) builds up and essential proteins are not made.
There are at least 40 different MTHFR mutations known, but the two that occur at positions C677T or A1298C are most problematic. These occur in over 30% of individuals, but seem to be more common in PWCS, in my experience.
The “treatment” is to take methyl-folate and methyl-cobalamin (B12), which is recommended for most PWCs anyway, so it is not necessary to take the blood test for these mutations.
I generally recommend 400 to 1000 mcg of methyl-folate daily, and 1000 to 5000 mcg of methyl-B12, both of which are available over-the-counter. The test for MTHFR mutations is frequently covered by insurance, but as of this writing Medicare is considering disallowing it.
More Q & A's
Would a sleep study be useful?Answered by Dr. Charles Lapp
Show Answer »
Q: I wake up each morning feeling tired, even though I have slept. Would a sleep study be useful?
A: There are at least four core symptoms in ME/CFS: pain, cognitive dysfunction, fatigue or post-exertional malaise, and non-restorative sleep. Thus, awakening unrefreshed is one of the cardinal symptoms of ME/CFS, and one of the last symptoms to resolve as one improves. You will probably wake up tired whether you sleep 4 hours or 14.
Nevertheless, primary sleep disorders such as apnea and periodic leg movements occur in up to 60% of people with ME/CFS or FM, and can disrupt sleep. So, if such problems are suspected, then a sleep study would be in order.
What is the difference between narcolepsy and CFS?Answered by Richard Podell, M.D., MPH www.DrPodell.org
Show Answer »
Q: What is the difference between narcolepsy and CFS?
A: Narcolepsy is a neurological condition where people have severe daytime sleepiness despite having had a reasonable amount of sleep. People with narcolepsy typically are asleep within less than eight minutes after lying down. Or they can fall asleep suddenly without intending to.
People with narcolepsy do not typically suffer from the kind of poor stamina we see with the fatigue that is typically for CFS/ME. Nor do narcoleptics typically become much worse for many hours or days following modest degrees of physical activity.
Persons with CFS/ME are almost always tired, but are not necessarily sleepy. They can be sleepy of course, but severe, profound daytime sleepiness despite a reasonable amount of sleep is not typical for most people who have CFS/ME.
When people with CFS/ME are sleepy during the day despite having slept it’s important that the physician consider several potential causes including sleep apnea, periodic leg movement disorder, the sleep distorting effects of chronic pain and psychological distress. Narcolepsy can co-occur with CFS/ME but that coincidence is not common.
One of the judgments physicians have to make with CFS/ME patients is whether to refer to a sleep specialist for an overnight sleep study or other evaluations.
Most people with narcolepsy suffer from a deficiency of a brain neurotransmitter called hypocretin. Hypocretin promotes wakefulness. The medicines Provigil (modafanil) and Nuvigil act to increase hypocretin. These help people with narcolepsy stay awake.
I and other CFS/ME specialists have found that a significant minority of people with CFS/ME feel more awake and mentally alert with Provigil or Nuvigil even though they do not have narcolepsy. Because these medicines work within hours, I often recommend a one or two day trial. However, Provigil and Nuvigil usually do not help physical stamina. Both are controlled substances.
Richard Podell, M.D., MPH
Clinical Professor Rutgers -Robert Wood Johnson Medical School
Summit, NJ 07901
Ask the doctor: Why is there so little research into CFS-ME? Why don’t we get respect?Answered by Lucinda Bateman
Show Answer »
Q: Why is there so little research into CFS-ME? Why don’t we get respect?
A: Although lack of respect has certainly played an important role in the slow progress of ME/CFS research, the full story is more complex. Research funding is based on promising hypotheses and well-designed studies that show convincing objective results, along with institutional biases, pharmaceutical pressures, the track record of each investigator and numerous other factors. Good results are more likely when we can clearly define the problem at hand and come up with reliable ways to measure it.
This field has been mired down with so many problems--- unclear or overlapping case definitions, small uncontrolled studies with mixed or un-replicated results, and the lack of a medical and scientific “home” are just a few.
Regardless of the frustrating problems so far, I predict that the research environment will change fairly quickly over the next few years due to intense discussion of case definitions, promising new biomarkers, the voices of public advocates and efforts by federal institutions to change old stereotypes.
Have a Question?
This is your opportunity to get questions about Chronic Fatigue Syndrome and Myalgic Encephalomyelitis answered by world-renowned doctors. Submit your question below and we'll pass it along to our network of ME/CFS physicians.
Note: This information has not been reviewed by the FDA. It is generic, is not intended to prevent, diagnose, treat or cure any illness, condition or disease, and is not meant to replace the personal attention of a medical professional.