Case Study 2: MTFHR Mutation and Vitamin D Deficiency
Patient Story 1: Vitamin D Deficiency and Thrombophilia
The GPM Integrative office has three staff members in their early 20s. The next batch of our "Patient stories" will focus on them and their recent bloodwork and highlight 1) the increase in chronic issues in younger and seemingly healthy adults and 2) the importance of early preventive medicine.
The "first" patient is a 23 year old male. In the months leading up to his blood work, he had two primary issues. Since catching a cold at the end of summer, he had difficulty getting rid of it. While not severe, he had a slight lingering cough and/or runny nose for months. The patient additionally had issues falling and staying asleep.
Family History: On his paternal side, he had a family history of hypertension, strokes, Alzheimer's, and two copies of the MTHFR mutation. The maternal side had a history of hypertension.
Bloodwork: The patient's blood work revealed:
Low Vitamin D levels
High Homocysteine Levels
Two Copies of the MTHFR mutation
Environmental allergies: Dust
Interventions: Based on the patient's family history and knowledge of his clotting issues, it was unsurprising that he had an MTHFR mutation and thrombophilia (thick blood, which is evident by their high homocysteine levels). This additionally explained his lingering sickness since MTHFR impairment can manifest in decreased immune function, and low Vitamin D levels can often impact sleep. As we learned during covid, vitamin D is also a crucial determinant of immune function and is necessary to fight off viruses. His susceptibility to colds and viruses will likely decrease significantly with adequate vitamin D.
Given these symptoms and their root causes, addressing his impaired methylation and low vitamin D levels was necessary. First, I recommended that he begin taking methylated folate. Those with an MTHFR mutation will have trouble converting folate to L-methylfolate, the biologically useful form of folate. So, taking it in a converted form allows the body to use it much more effectively. I also had him start a supplement with methylmalonic acid (MMA) and vitamin B12, also known as cobalamin. MMA is representative of functional B12; high levels of MMA indicate low functional B12, meaning the body is not using it. Supplementing MMA & B12 together allows the body to have the B12 and the tools to methylate (convert to a usable form) B12 into methylcobalamin.
I suggested he take a Vitamin D supplement and spend more time outside to increase his Vitamin D levels. The remaining problem to address was thrombophilia. While this would improve over time as he improved his methylation, I recommended using the office's Bemer mat, which uses electromagnetic pulses to enhance circulation.
While he had no chronic issues, it highlights the importance of not ignoring "smaller" issues. In this patient's case, ignoring his frequent runny nose and trouble falling asleep could have led to serious clotting problems if left untreated!
