Jacques Courseault, MD, CAQSM, FAAPMR

August 26, 2022 – The area of hypermobility and Ehlers-Danlos research is gaining more traction with the recognition of peculiar clinically presenting patterns in flexible patients. Because of the thorough evaluation performed at the Tulane Hypermobility and Ehlers-Danlos Clinic, we noticed a trend of high folate levels during the screening. To explain the significance levels, we checked for MTHFR polymorphisms and noted an interesting trend. High folate levels correlate with MTHFR polymorphisms. We then teamed up with Dr. Gregory Bix to determine if folate has a relationship with extracellular matrix products. Thanks to his help, we could draw a connection between low intracellular folate and inactivated decorin (a protein necessary for the “glue that holds collagen together”).

This is very early research, and we are the first to publish this connection. Here is access to our preprint paper that we felt we needed to publish ASAP before completing the peer review process so that patients can be treated.

Click to access the preprint publication.

Here are the highlights:

  • There is no known gene to explain hypermobility spectrum disorders or hypermobile-type EDS.

  • Hypermobility and hypermobile-type EDS are not primary collagen disorders.

  • Decorin may be a key protein implicated in extracellular matrix health.

  • Methylated folate is needed to activate decorin.

  • MTHFR polymorphisms result in a decrease in methylated folate, resulting in deactivated decorin.

  • A HIGH FOLATE lab test may indicate an MTHFR polymorphism.

  • Folate deficiency leads to many hypermobility signs and symptoms.

  • Assessing for an MTHFR polymorphism is important to make the proposed diagnosis of Folate Deficient Hypermobility Syndrome.

  • Treating with methylated B-vitamins is showing good observational benefit.