¡Hey! Do you have a friend or family member who can bend their limbs at impossible angles or easily slide into a split? Sure you do, but this is more than just having “double joints”. Researchers at Tulane University have discovered a possible genetic cause of hypermobility, which is more serious than previously thought. Hypermobility is a condition that causes fragile connective tissue and can cause a variety of symptoms such as joint pain, chronic fatigue, migraines, and psychiatric disorders; women with this condition may be at increased risk of endometriosis or uterine fibroids.
As it turns out, after many years of struggling, Tulane researchers found the cause of the hypermobility related to a folate deficiency caused by a variation of the MTHFR gene. If you have this genetic variant, you are unable to metabolize folate and this can prevent key proteins from binding collagen to the extracellular matrix, resulting in more elastic connective tissue, hypermobility, and a potential cascade of associated conditions.
This discovery may help doctors more accurately diagnose hypermobility and hypermobile Ehlers-Danlos syndrome. Until now, hypermobility could only be diagnosed using the Beighton score, a controversial physical exam that measures curvature of the spine, fingers, and extremities; The number of people with hypermobility is not clear, but it is believed that it could comprise more than half of the world’s population.
Hopefully with this discovery, doctors can more accurately diagnose hypermobility and Ehlers-Danlos syndrome by looking for elevated folate levels in blood tests, as well as the MTHFR genetic variant. Now, hypermobile patients can receive the right treatment and lead a life without frustration. Hypermobility is like a Ferrari that requires a lot of maintenance and the best synthetic oil!