Question from a colleague:
Hey how’s it going. I have been trying to read all your stuff on MTHFR. but I am missing something. Is the first screen process getting a homocysteine level on all patients or just ones with depression, strong family hx of cardiovascular disease, etc. thanks
Not all those with MTHFR mutations will have an elevated homocysteine level – especially those with heterozygous mutations, taking supplements and eating well.
Screening for MTHFR is not set in stone and there is no set protocol out there as it is not on the radar yet. I believe it needs to be.
Patients that I recommended screening 100% for MTHFR mutations:
- Pre-conception care: test both man and woman
- Mental dysfunction including but not limited to depression, anxiety, irritability, mood swings, schizophrenia, bipolar
- Infants and children of parents with MTHFR mutations
- Family members related to someone with MTHFR mutations
- Elevated folate (not processing to active 5-MTHF due to inability to methylate)
- Elevated homocysteine (due to low active 5-MTHF and methylcobalamin)
- Elevated s-adenosylhomocysteine (due to low active 5-MTHF and methylcobalamin)
- Elevated serum cobalamin (due to inability to methylate cyanocobalamin to methylcobalamin)
- Elevated methylmalonic acid (due to methylcobalamin deficiency)
- Patients with syndromes: IBS, Chemical sensitivity, Fibromyalgia, Down Syndrome, Chronic fatigue syndrome
- Neurological disorders: Multiple sclerosis, Autism, Alzheimer’s, Epilepsy, Parkinson’s to name a few
- Cancer: family history of cancer or undergoing cancer treatment
- Cervical dysplasia
- Cardiovascular risk: family history of strokes, embolisms, heart attacks, clots, essential hypertension
- Birth defects: cleft palate, tetralogy of Fallot, spinal bifida, midline defects
- Drug sensitivities: methotrexate, anti-epileptics, nitrous oxide, anesthesia
Now is this being overly cautious and over-the-top?
In my opinion, no.
The genetic testing for MTHFR mutations of 677 and 1298 costs only $150 – $200 and is often covered by insurance.
$150 to $200 is very inexpensive compared to a life of unresolved symptoms, mental anguish or worse – miscarrying a child.
Just a few years ago, vitamin D3 deficiency was not on the radar. It was not being tested for and countless patients and individuals were suffering needlessly from an increased risk of:
- and others…
Now, patients and indidivuals are paying around $60 for vitamin D3 blood testing to monitor their levels – and they are ordering this test once or more each year.
A MTHFR genetic test is ordered ONCE in a lifetime.
I do recommend that a tag-along blood test be ordered and that is the Methylation Profile by Doctor’s Data.
UPDATE September 9, 2012:
I am now recommending a more comprehensive Methylation Pathways Panel as it measures a variety of folates, SAM, SAH, glutathione and some other markers.
This test along with the Methylation Profile by Doctor’s Data can provide insight how your methylation is doing.
If you need to choose one, then I recommend the Methylation Pathways Panel as you will obtain more information from it compared to the Methylation Profile by Doctor’s Data.
This helps guide nutrient recommendations and avoid the ‘guessing game’ of how much 5-MTHF to give and how much methylation support is needed.
We physicians know that excessive methylation may lead to cancer. We also know that hypomethylation can lead to cancer.
That said, it is very important in my mind to monitor the MTHFR mutation therapies by using the Methylation Profile.
Many doctors think that if an indidivual is not expressing any symptoms or signs of MTHFR defects and their homocysteine is fine, no lab testing is needed and no supplementation changes are needed.
I fully disagree.
Given the prevalence of the MTHFR mutations, over 50% for heterozygous A1298C (need source – saw it recently), I am adamant about testing for MTHFR mutations in pre-conception care.
Also, in terms of effective supplementation for the general public:
It is easy to give a prenatal or additional supplements with the active 5-MTHF, L-5-MTHF and active methylcobalamin – so why not do it for everyone – regardless if they have MTHFR mutations or not?
I look forward all of your comments.
This is a discussion that must be had and we cannot have a discussion without your input – so please – provide your twenty-five cents.